KEGG   Homo sapiens (human): 10105
Entry
10105             CDS       T01001                                 

Gene name
PPIF, CYP3, CyP-M, Cyp-D, CypD
Definition
(RefSeq) peptidylprolyl isomerase F
  KO
K09565  peptidyl-prolyl isomerase F (cyclophilin D) [EC:5.2.1.8]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05016  Huntington disease
hsa05145  Toxoplasmosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    10105 (PPIF)
   04022 cGMP-PKG signaling pathway
    10105 (PPIF)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    10105 (PPIF)
   05012 Parkinson disease
    10105 (PPIF)
   05016 Huntington disease
    10105 (PPIF)
  09174 Infectious disease: parasitic
   05145 Toxoplasmosis
    10105 (PPIF)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03110 Chaperones and folding catalysts [BR:hsa03110]
    10105 (PPIF)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.2  cis-trans-Isomerases
   5.2.1  cis-trans Isomerases (only sub-subclass identified to date)
    5.2.1.8  peptidylprolyl isomerase
     10105 (PPIF)
Chaperones and folding catalysts [BR:hsa03110]
 Protein folding catalysts
  Peptidyl prolyl isomerase
   Cyclophilin
    10105 (PPIF)
SSDB
Motif
Pfam: Pro_isomerase
Other DBs
NCBI-GeneID: 10105
NCBI-ProteinID: NP_005720
OMIM: 604486
HGNC: 9259
Ensembl: ENSG00000108179
Vega: OTTHUMG00000018562
Pharos: P30405(Tchem)
UniProt: P30405 A0A024QZS4
Structure
PDB: 

Position
10q22.3
AA seq 207 aa
MLALRCGSRWLGLLSVPRSVPLRLPAARACSKGSGDPSSSSSSGNPLVYLDVDANGKPLG
RVVLELKADVVPKTAENFRALCTGEKGFGYKGSTFHRVIPSFMCQAGDFTNHNGTGGKSI
YGSRFPDENFTLKHVGPGVLSMANAGPNTNGSQFFICTIKTDWLDGKHVVFGHVKEGMDV
VKKIESFGSKSGRTSKKIVITDCGQLS
NT seq 624 nt   +upstreamnt  +downstreamnt
atgctggcgctgcgctgcggctcccgctggctcggcctgctctccgtcccgcgctccgtg
ccgctgcgcctccccgcggcccgcgcctgcagcaagggctccggcgacccgtcctcttcc
tcctcctccgggaacccgctcgtgtacctggacgtggacgccaacgggaagccgctcggc
cgcgtggtgctggagctgaaggcagatgtcgtcccaaagacagctgagaacttcagagcc
ctgtgcactggtgagaagggcttcggctacaaaggctccaccttccacagggtgatccct
tccttcatgtgccaggcgggcgacttcaccaaccacaatggcacaggcgggaagtccatc
tacggaagccgctttcctgacgagaactttacactgaagcacgtggggccaggtgtcctg
tccatggctaatgctggtcctaacaccaacggctcccagttcttcatctgcaccataaag
acagactggttggatggcaagcatgttgtgttcggtcacgtcaaagagggcatggacgtc
gtgaagaaaatagaatctttcggctctaagagtgggaggacatccaagaagattgtcatc
acagactgtggccagttgagctaa

KEGG   Homo sapiens (human): 291
Entry
291               CDS       T01001                                 

Gene name
SLC25A4, AAC1, ANT, ANT_1, ANT1, MTDPS12, MTDPS12A, PEO2, PEO3, PEOA2, T1
Definition
(RefSeq) solute carrier family 25 member 4
  KO
K05863  solute carrier family 25 (mitochondrial adenine nucleotide translocator), member 4/5/6/31
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04217  Necroptosis
hsa04218  Cellular senescence
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05016  Huntington disease
hsa05164  Influenza A
hsa05166  Human T-cell leukemia virus 1 infection
Network
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
  Element
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
N00967  VGCC-Ca2+ -apoptotic pathway
N00984  mGluR5-Ca2+ -apoptotic pathway
N00985  Mutation-caused aberrant Htt to mGluR5-Ca2+ -apoptotic pathway
N00987  Mutation-caused aberrant Htt to transport of calcium
N01000  mAChR-Ca2+ -apoptotic pathway
N01001  Mutation-caused aberrant Abeta to mAchR-Ca2+ -apoptotic pathway
N01002  Mutation-caused aberrant Abeta to mGluR5-Ca2+ -apoptotic pathway
N01003  Mutation-caused aberrant Abeta to transport of calcium
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01006  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01007  Mutation-caused aberrant PSEN to mGluR5-Ca2+ -apoptotic pathway
N01008  Mutation-caused aberrant PSEN1 to mGluR5-Ca2+ -apoptotic pathway
N01031  Mutation-caused aberrant SNCA to VGCC-Ca2+ -apoptotic pathway
Disease
H00469  Mitochondrial DNA depletion syndrome
H01118  Progressive external ophthalmoplegia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    291 (SLC25A4)
   04022 cGMP-PKG signaling pathway
    291 (SLC25A4)
 09140 Cellular Processes
  09143 Cell growth and death
   04217 Necroptosis
    291 (SLC25A4)
   04218 Cellular senescence
    291 (SLC25A4)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    291 (SLC25A4)
   05012 Parkinson disease
    291 (SLC25A4)
   05016 Huntington disease
    291 (SLC25A4)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    291 (SLC25A4)
   05164 Influenza A
    291 (SLC25A4)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    291 (SLC25A4)
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    291 (SLC25A4)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial transcription and translation factors
   Other mitochondrial DNA transcription and translation factors
    291 (SLC25A4)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC25: Mitochondrial carrier
   291 (SLC25A4)
SSDB
Motif
Pfam: Mito_carr
Other DBs
NCBI-GeneID: 291
NCBI-ProteinID: NP_001142
OMIM: 103220
HGNC: 10990
Ensembl: ENSG00000151729
Vega: OTTHUMG00000134299
Pharos: P12235(Tbio)
UniProt: P12235 A0A0S2Z3H3
Position
4q35.1
AA seq 298 aa
MGDHAWSFLKDFLAGGVAAAVSKTAVAPIERVKLLLQVQHASKQISAEKQYKGIIDCVVR
IPKEQGFLSFWRGNLANVIRYFPTQALNFAFKDKYKQLFLGGVDRHKQFWRYFAGNLASG
GAAGATSLCFVYPLDFARTRLAADVGKGAAQREFHGLGDCIIKIFKSDGLRGLYQGFNVS
VQGIIIYRAAYFGVYDTAKGMLPDPKNVHIFVSWMIAQSVTAVAGLVSYPFDTVRRRMMM
QSGRKGADIMYTGTVDCWRKIAKDEGAKAFFKGAWSNVLRGMGGAFVLVLYDEIKKYV
NT seq 897 nt   +upstreamnt  +downstreamnt
atgggtgatcacgcttggagcttcctaaaggacttcctggccgggggcgtcgccgctgcc
gtctccaagaccgcggtcgcccccatcgagagggtcaaactgctgctgcaggtccagcat
gccagcaaacagatcagtgctgagaagcagtacaaagggatcattgattgtgtggtgaga
atccctaaggagcagggcttcctctccttctggaggggtaacctggccaacgtgatccgt
tacttccccacccaagctctcaacttcgccttcaaggacaagtacaagcagctcttctta
gggggtgtggatcggcataagcagttctggcgctactttgctggtaacctggcgtccggt
ggggccgctggggccacctccctttgctttgtctacccgctggactttgctaggaccagg
ttggctgctgatgtgggcaagggcgccgcccagcgtgagttccatggtctgggcgactgt
atcatcaagatcttcaagtctgatggcctgagggggctctaccagggtttcaacgtctct
gtccaaggcatcattatctatagagctgcctacttcggagtctatgatactgccaagggg
atgctgcctgaccccaagaacgtgcacatttttgtgagctggatgattgcccagagtgtg
acggcagtcgcagggctggtgtcctacccctttgacactgttcgtcgtagaatgatgatg
cagtccggccggaaaggggccgatattatgtacacggggacagttgactgctggaggaag
attgcaaaagacgaaggagccaaggccttcttcaaaggtgcctggtccaatgtgctgaga
ggcatgggcggtgcttttgtattggtgttgtatgatgagatcaaaaaatatgtctaa

KEGG   Homo sapiens (human): 292
Entry
292               CDS       T01001                                 

Gene name
SLC25A5, 2F1, AAC2, ANT2, T2, T3
Definition
(RefSeq) solute carrier family 25 member 5
  KO
K05863  solute carrier family 25 (mitochondrial adenine nucleotide translocator), member 4/5/6/31
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04217  Necroptosis
hsa04218  Cellular senescence
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05016  Huntington disease
hsa05164  Influenza A
hsa05166  Human T-cell leukemia virus 1 infection
Network
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
  Element
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
N00967  VGCC-Ca2+ -apoptotic pathway
N00984  mGluR5-Ca2+ -apoptotic pathway
N00985  Mutation-caused aberrant Htt to mGluR5-Ca2+ -apoptotic pathway
N00987  Mutation-caused aberrant Htt to transport of calcium
N01000  mAChR-Ca2+ -apoptotic pathway
N01001  Mutation-caused aberrant Abeta to mAchR-Ca2+ -apoptotic pathway
N01002  Mutation-caused aberrant Abeta to mGluR5-Ca2+ -apoptotic pathway
N01003  Mutation-caused aberrant Abeta to transport of calcium
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01006  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01007  Mutation-caused aberrant PSEN to mGluR5-Ca2+ -apoptotic pathway
N01008  Mutation-caused aberrant PSEN1 to mGluR5-Ca2+ -apoptotic pathway
N01031  Mutation-caused aberrant SNCA to VGCC-Ca2+ -apoptotic pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    292 (SLC25A5)
   04022 cGMP-PKG signaling pathway
    292 (SLC25A5)
 09140 Cellular Processes
  09143 Cell growth and death
   04217 Necroptosis
    292 (SLC25A5)
   04218 Cellular senescence
    292 (SLC25A5)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    292 (SLC25A5)
   05012 Parkinson disease
    292 (SLC25A5)
   05016 Huntington disease
    292 (SLC25A5)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    292 (SLC25A5)
   05164 Influenza A
    292 (SLC25A5)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    292 (SLC25A5)
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    292 (SLC25A5)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial transcription and translation factors
   Other mitochondrial DNA transcription and translation factors
    292 (SLC25A5)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC25: Mitochondrial carrier
   292 (SLC25A5)
SSDB
Motif
Pfam: Mito_carr Fuseless
Other DBs
NCBI-GeneID: 292
NCBI-ProteinID: NP_001143
OMIM: 300150
HGNC: 10991
Ensembl: ENSG00000005022
Vega: OTTHUMG00000022715
Pharos: P05141(Tbio)
UniProt: P05141 Q6NVC0
Position
Xq24
AA seq 298 aa
MTDAAVSFAKDFLAGGVAAAISKTAVAPIERVKLLLQVQHASKQITADKQYKGIIDCVVR
IPKEQGVLSFWRGNLANVIRYFPTQALNFAFKDKYKQIFLGGVDKRTQFWLYFAGNLASG
GAAGATSLCFVYPLDFARTRLAADVGKAGAEREFRGLGDCLVKIYKSDGIKGLYQGFNVS
VQGIIIYRAAYFGIYDTAKGMLPDPKNTHIVISWMIAQTVTAVAGLTSYPFDTVRRRMMM
QSGRKGTDIMYTGTLDCWRKIARDEGGKAFFKGAWSNVLRGMGGAFVLVLYDEIKKYT
NT seq 897 nt   +upstreamnt  +downstreamnt
atgacagatgccgctgtgtccttcgccaaggacttcctggcaggtggagtggccgcagcc
atctccaagacggcggtagcgcccatcgagcgggtcaagctgctgctgcaggtgcagcat
gccagcaagcagatcactgcagataagcaatacaaaggcattatagactgcgtggtccgt
attcccaaggagcagggagttctgtccttctggcgcggtaacctggccaatgtcatcaga
tacttccccacccaggctcttaacttcgccttcaaagataaatacaagcagatcttcctg
ggtggtgtggacaagagaacccagttttggctctactttgcagggaatctggcatcgggt
ggtgccgcaggggccacatccctgtgttttgtgtaccctcttgattttgcccgtacccgt
ctagcagctgatgtgggtaaagctggagctgaaagggaattccgaggcctcggtgactgc
ctggttaagatctacaaatctgatgggattaagggcctgtaccaaggctttaacgtgtct
gtgcagggtattatcatctaccgagccgcctacttcggtatctatgacactgcaaaggga
atgcttccggatcccaagaacactcacatcgtcatcagctggatgatcgcacagactgtc
actgctgttgccgggttgacttcctatccatttgacactgttcgccgccgcatgatgatg
cagtcagggcgcaaaggaactgacatcatgtacacaggcacgcttgactgctggcggaag
attgctcgtgatgaaggaggcaaagcttttttcaagggtgcatggtccaatgttctcaga
ggcatgggtggtgcttttgtgcttgtcttgtatgatgaaatcaagaagtacacataa

KEGG   Homo sapiens (human): 293
Entry
293               CDS       T01001                                 

Gene name
SLC25A6, AAC3, ANT, ANT_2, ANT_3, ANT3, ANT3Y
Definition
(RefSeq) solute carrier family 25 member 6
  KO
K05863  solute carrier family 25 (mitochondrial adenine nucleotide translocator), member 4/5/6/31
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04217  Necroptosis
hsa04218  Cellular senescence
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05016  Huntington disease
hsa05164  Influenza A
hsa05166  Human T-cell leukemia virus 1 infection
Network
nt06131  Apoptosis (viruses and bacteria)
nt06170  Influenza A virus (IAV)
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
  Element
N00745  IAV PB1-F2 to intrinsic apoptotic pathway
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
N00967  VGCC-Ca2+ -apoptotic pathway
N00984  mGluR5-Ca2+ -apoptotic pathway
N00985  Mutation-caused aberrant Htt to mGluR5-Ca2+ -apoptotic pathway
N00987  Mutation-caused aberrant Htt to transport of calcium
N01000  mAChR-Ca2+ -apoptotic pathway
N01001  Mutation-caused aberrant Abeta to mAchR-Ca2+ -apoptotic pathway
N01002  Mutation-caused aberrant Abeta to mGluR5-Ca2+ -apoptotic pathway
N01003  Mutation-caused aberrant Abeta to transport of calcium
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01006  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01007  Mutation-caused aberrant PSEN to mGluR5-Ca2+ -apoptotic pathway
N01008  Mutation-caused aberrant PSEN1 to mGluR5-Ca2+ -apoptotic pathway
N01031  Mutation-caused aberrant SNCA to VGCC-Ca2+ -apoptotic pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    293 (SLC25A6)
   04022 cGMP-PKG signaling pathway
    293 (SLC25A6)
 09140 Cellular Processes
  09143 Cell growth and death
   04217 Necroptosis
    293 (SLC25A6)
   04218 Cellular senescence
    293 (SLC25A6)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    293 (SLC25A6)
   05012 Parkinson disease
    293 (SLC25A6)
   05016 Huntington disease
    293 (SLC25A6)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    293 (SLC25A6)
   05164 Influenza A
    293 (SLC25A6)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    293 (SLC25A6)
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    293 (SLC25A6)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial transcription and translation factors
   Other mitochondrial DNA transcription and translation factors
    293 (SLC25A6)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC25: Mitochondrial carrier
   293 (SLC25A6)
SSDB
Motif
Pfam: Mito_carr Fuseless
Other DBs
NCBI-GeneID: 293
NCBI-ProteinID: NP_001627
OMIM: 300151 403000
HGNC: 10992
Ensembl: ENSG00000169100
Vega: OTTHUMG00000021058
Pharos: P12236(Tbio)
UniProt: P12236 Q6I9V5
Position
Xp22.33 and Yp11.2
AA seq 298 aa
MTEQAISFAKDFLAGGIAAAISKTAVAPIERVKLLLQVQHASKQIAADKQYKGIVDCIVR
IPKEQGVLSFWRGNLANVIRYFPTQALNFAFKDKYKQIFLGGVDKHTQFWRYFAGNLASG
GAAGATSLCFVYPLDFARTRLAADVGKSGTEREFRGLGDCLVKITKSDGIRGLYQGFSVS
VQGIIIYRAAYFGVYDTAKGMLPDPKNTHIVVSWMIAQTVTAVAGVVSYPFDTVRRRMMM
QSGRKGADIMYTGTVDCWRKIFRDEGGKAFFKGAWSNVLRGMGGAFVLVLYDELKKVI
NT seq 897 nt   +upstreamnt  +downstreamnt
atgacggaacaggccatctccttcgccaaagacttcttggccggaggcatcgccgccgcc
atctccaagacggccgtggctccgatcgagcgggtcaagctgctgctgcaggtccagcac
gccagcaagcagatcgccgccgacaagcagtacaagggcatcgtggactgcattgtccgc
atccccaaggagcagggcgtgctgtccttctggaggggcaaccttgccaacgtcattcgc
tacttccccactcaagccctcaacttcgccttcaaggataagtacaagcagatcttcctg
gggggcgtggacaagcacacgcagttctggaggtactttgcgggcaacctggcctccggc
ggtgcggccggcgcgacctccctctgcttcgtgtacccgctggatttcgccagaacccgc
ctggcagcggacgtgggaaagtcaggcacagagcgcgagttccgaggcctgggagactgc
ctggtgaagatcaccaagtccgacggcatccggggcctgtaccagggcttcagtgtctcc
gtgcagggcatcatcatctaccgggcggcctacttcggcgtgtacgatacggccaagggc
atgctccccgaccccaagaacacgcacatcgtggtgagctggatgatcgcgcagaccgtg
acggccgtggccggcgtggtgtcctaccccttcgacacggtgcggcggcgcatgatgatg
cagtccgggcgcaaaggagctgacatcatgtacacgggcaccgtcgactgttggaggaag
atcttcagagatgaggggggcaaggccttcttcaagggtgcgtggtccaacgtcctgcgg
ggcatggggggcgccttcgtgctggtcctgtacgacgagctcaagaaggtgatctaa

KEGG   Homo sapiens (human): 7416
Entry
7416              CDS       T01001                                 

Gene name
VDAC1, PORIN, VDAC-1
Definition
(RefSeq) voltage dependent anion channel 1
  KO
K05862  voltage-dependent anion channel protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04217  Necroptosis
hsa04218  Cellular senescence
hsa04621  NOD-like receptor signaling pathway
hsa04979  Cholesterol metabolism
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05016  Huntington disease
hsa05131  Shigellosis
hsa05164  Influenza A
hsa05166  Human T-cell leukemia virus 1 infection
Network
nt06131  Apoptosis (viruses and bacteria)
nt06170  Influenza A virus (IAV)
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
  Element
N00745  IAV PB1-F2 to intrinsic apoptotic pathway
N00950  Escherichia/Salmonella/Shigella FimA to crosstalk between extrinsic and intrinsic apoptotic pathways
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
N00967  VGCC-Ca2+ -apoptotic pathway
N00984  mGluR5-Ca2+ -apoptotic pathway
N00985  Mutation-caused aberrant Htt to mGluR5-Ca2+ -apoptotic pathway
N00987  Mutation-caused aberrant Htt to transport of calcium
N01000  mAChR-Ca2+ -apoptotic pathway
N01001  Mutation-caused aberrant Abeta to mAchR-Ca2+ -apoptotic pathway
N01002  Mutation-caused aberrant Abeta to mGluR5-Ca2+ -apoptotic pathway
N01003  Mutation-caused aberrant Abeta to transport of calcium
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01006  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01007  Mutation-caused aberrant PSEN to mGluR5-Ca2+ -apoptotic pathway
N01008  Mutation-caused aberrant PSEN1 to mGluR5-Ca2+ -apoptotic pathway
N01031  Mutation-caused aberrant SNCA to VGCC-Ca2+ -apoptotic pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    7416 (VDAC1)
   04022 cGMP-PKG signaling pathway
    7416 (VDAC1)
 09140 Cellular Processes
  09143 Cell growth and death
   04217 Necroptosis
    7416 (VDAC1)
   04218 Cellular senescence
    7416 (VDAC1)
 09150 Organismal Systems
  09151 Immune system
   04621 NOD-like receptor signaling pathway
    7416 (VDAC1)
  09154 Digestive system
   04979 Cholesterol metabolism
    7416 (VDAC1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    7416 (VDAC1)
   05012 Parkinson disease
    7416 (VDAC1)
   05016 Huntington disease
    7416 (VDAC1)
  09171 Infectious disease: bacterial
   05131 Shigellosis
    7416 (VDAC1)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    7416 (VDAC1)
   05164 Influenza A
    7416 (VDAC1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    7416 (VDAC1)
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    7416 (VDAC1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial protein import machinery
  Outer membrane
   Porin
    7416 (VDAC1)
Ion channels [BR:hsa04040]
 Chloride channels
  Maxi chloride channel (VDAC)
   7416 (VDAC1)
SSDB
Motif
Pfam: Porin_3
Other DBs
NCBI-GeneID: 7416
NCBI-ProteinID: NP_003365
OMIM: 604492
HGNC: 12669
Ensembl: ENSG00000213585
Vega: OTTHUMG00000129118
Pharos: P21796(Tbio)
UniProt: P21796 A0A1L1UHR1 B3KTS5
Structure
PDB: 

Position
5q31.1
AA seq 283 aa
MAVPPTYADLGKSARDVFTKGYGFGLIKLDLKTKSENGLEFTSSGSANTETTKVTGSLET
KYRWTEYGLTFTEKWNTDNTLGTEITVEDQLARGLKLTFDSSFSPNTGKKNAKIKTGYKR
EHINLGCDMDFDIAGPSIRGALVLGYEGWLAGYQMNFETAKSRVTQSNFAVGYKTDEFQL
HTNVNDGTEFGGSIYQKVNKKLETAVNLAWTAGNSNTRFGIAAKYQIDPDACFSAKVNNS
SLIGLGYTQTLKPGIKLTLSALLDGKNVNAGGHKLGLGLEFQA
NT seq 852 nt   +upstreamnt  +downstreamnt
atggctgtgccacccacgtatgccgatcttggcaaatctgccagggatgtcttcaccaag
ggctatggatttggcttaataaagcttgatttgaaaacaaaatctgagaatggattggaa
tttacaagctcaggctcagccaacactgagaccaccaaagtgacgggcagtctggaaacc
aagtacagatggactgagtacggcctgacgtttacagagaaatggaataccgacaataca
ctaggcaccgagattactgtggaagatcagcttgcacgtggactgaagctgaccttcgat
tcatccttctcacctaacactgggaaaaaaaatgctaaaatcaagacagggtacaagcgg
gagcacattaacctgggctgcgacatggatttcgacattgctgggccttccatccggggt
gctctggtgctaggttacgagggctggctggccggctaccagatgaattttgagactgca
aaatcccgagtgacccagagcaactttgcagttggctacaagactgatgaattccagctt
cacactaatgtgaatgacgggacagagtttggcggctccatttaccagaaagtgaacaag
aagttggagaccgctgtcaatcttgcctggacagcaggaaacagtaacacgcgcttcgga
atagcagccaagtatcagattgaccctgacgcctgcttctcggctaaagtgaacaactcc
agcctgataggtttaggatacactcagactctaaagccaggtattaaactgacactgtca
gctcttctggatggcaagaacgtcaatgctggtggccacaagcttggtctaggactggaa
tttcaagcataa

KEGG   Homo sapiens (human): 7417
Entry
7417              CDS       T01001                                 

Gene name
VDAC2, POR
Definition
(RefSeq) voltage dependent anion channel 2
  KO
K15040  voltage-dependent anion channel protein 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04216  Ferroptosis
hsa04217  Necroptosis
hsa04218  Cellular senescence
hsa04621  NOD-like receptor signaling pathway
hsa04979  Cholesterol metabolism
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05016  Huntington disease
hsa05166  Human T-cell leukemia virus 1 infection
Network
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
  Element
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
N00967  VGCC-Ca2+ -apoptotic pathway
N00984  mGluR5-Ca2+ -apoptotic pathway
N00985  Mutation-caused aberrant Htt to mGluR5-Ca2+ -apoptotic pathway
N00987  Mutation-caused aberrant Htt to transport of calcium
N01000  mAChR-Ca2+ -apoptotic pathway
N01001  Mutation-caused aberrant Abeta to mAchR-Ca2+ -apoptotic pathway
N01002  Mutation-caused aberrant Abeta to mGluR5-Ca2+ -apoptotic pathway
N01003  Mutation-caused aberrant Abeta to transport of calcium
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01006  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01007  Mutation-caused aberrant PSEN to mGluR5-Ca2+ -apoptotic pathway
N01008  Mutation-caused aberrant PSEN1 to mGluR5-Ca2+ -apoptotic pathway
N01031  Mutation-caused aberrant SNCA to VGCC-Ca2+ -apoptotic pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    7417 (VDAC2)
   04022 cGMP-PKG signaling pathway
    7417 (VDAC2)
 09140 Cellular Processes
  09143 Cell growth and death
   04216 Ferroptosis
    7417 (VDAC2)
   04217 Necroptosis
    7417 (VDAC2)
   04218 Cellular senescence
    7417 (VDAC2)
 09150 Organismal Systems
  09151 Immune system
   04621 NOD-like receptor signaling pathway
    7417 (VDAC2)
  09154 Digestive system
   04979 Cholesterol metabolism
    7417 (VDAC2)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    7417 (VDAC2)
   05012 Parkinson disease
    7417 (VDAC2)
   05016 Huntington disease
    7417 (VDAC2)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    7417 (VDAC2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    7417 (VDAC2)
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    7417 (VDAC2)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial protein import machinery
  Outer membrane
   Porin
    7417 (VDAC2)
Ion channels [BR:hsa04040]
 Chloride channels
  Maxi chloride channel (VDAC)
   7417 (VDAC2)
SSDB
Motif
Pfam: Porin_3
Other DBs
NCBI-GeneID: 7417
NCBI-ProteinID: NP_001171752
OMIM: 193245
HGNC: 12672
Ensembl: ENSG00000165637
Vega: OTTHUMG00000018517
Pharos: P45880(Tchem)
UniProt: P45880 A0A024QZT0
Position
10q22.2
AA seq 294 aa
MATHGQTCARPMCIPPSYADLGKAARDIFNKGFGFGLVKLDVKTKSCSGVEFSTSGSSNT
DTGKVTGTLETKYKWCEYGLTFTEKWNTDNTLGTEIAIEDQICQGLKLTFDTTFSPNTGK
KSGKIKSSYKRECINLGCDVDFDFAGPAIHGSAVFGYEGWLAGYQMTFDSAKSKLTRNNF
AVGYRTGDFQLHTNVNDGTEFGGSIYQKVCEDLDTSVNLAWTSGTNCTRFGIAAKYQLDP
TASISAKVNNSSLIGVGYTQTLRPGVKLTLSALVDGKSINAGGHKVGLALELEA
NT seq 885 nt   +upstreamnt  +downstreamnt
atggcgacccacggacagacttgcgcgcgtccaatgtgtattcctccatcatatgctgac
cttggcaaagctgccagagatattttcaacaaaggatttggttttgggttggtgaaactg
gatgtgaaaacaaagtcttgcagtggcgtggaattttcaacgtccggttcatctaataca
gacactggtaaagttactgggaccttggagaccaaatacaagtggtgtgagtatggtctg
actttcacagaaaagtggaacactgataacactctgggaacagaaatcgcaattgaagac
cagatttgtcaaggtttgaaactgacatttgatactaccttctcaccaaacacaggaaag
aaaagtggtaaaatcaagtcttcttacaagagggagtgtataaaccttggttgtgatgtt
gactttgattttgctggacctgcaatccatggttcagctgtctttggttatgagggctgg
cttgctggctaccagatgacctttgacagtgccaaatcaaagctgacaaggaataacttt
gcagtgggctacaggactggggacttccagctacacactaatgtcaatgatgggacagaa
tttggaggatcaatttatcagaaagtttgtgaagatcttgacacttcagtaaaccttgct
tggacatcaggtaccaactgcactcgttttggcattgcagctaaatatcagttggatccc
actgcttccatttctgcaaaagtcaacaactctagcttaattggagtaggctatactcag
actctgaggcctggtgtgaagcttacactctctgctctggtagatgggaagagcattaat
gctggaggccacaaggttgggctcgccctggagttggaggcttaa

KEGG   Homo sapiens (human): 7419
Entry
7419              CDS       T01001                                 

Gene name
VDAC3, HD-VDAC3, VDAC-3
Definition
(RefSeq) voltage dependent anion channel 3
  KO
K15041  voltage-dependent anion channel protein 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04216  Ferroptosis
hsa04217  Necroptosis
hsa04218  Cellular senescence
hsa04621  NOD-like receptor signaling pathway
hsa04979  Cholesterol metabolism
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05016  Huntington disease
hsa05161  Hepatitis B
hsa05166  Human T-cell leukemia virus 1 infection
hsa05203  Viral carcinogenesis
Network
nt06110  MAPK signaling (viruses)
nt06162  Hepatitis B virus (HBV)
nt06263  Hepatocellular carcinoma
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
  Element
N00539  HBV HBx to Ca2+-PYK2-RAS-ERK signaling pathway
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
N00967  VGCC-Ca2+ -apoptotic pathway
N00984  mGluR5-Ca2+ -apoptotic pathway
N00985  Mutation-caused aberrant Htt to mGluR5-Ca2+ -apoptotic pathway
N00987  Mutation-caused aberrant Htt to transport of calcium
N01000  mAChR-Ca2+ -apoptotic pathway
N01001  Mutation-caused aberrant Abeta to mAchR-Ca2+ -apoptotic pathway
N01002  Mutation-caused aberrant Abeta to mGluR5-Ca2+ -apoptotic pathway
N01003  Mutation-caused aberrant Abeta to transport of calcium
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01006  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01007  Mutation-caused aberrant PSEN to mGluR5-Ca2+ -apoptotic pathway
N01008  Mutation-caused aberrant PSEN1 to mGluR5-Ca2+ -apoptotic pathway
N01031  Mutation-caused aberrant SNCA to VGCC-Ca2+ -apoptotic pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    7419 (VDAC3)
   04022 cGMP-PKG signaling pathway
    7419 (VDAC3)
 09140 Cellular Processes
  09143 Cell growth and death
   04216 Ferroptosis
    7419 (VDAC3)
   04217 Necroptosis
    7419 (VDAC3)
   04218 Cellular senescence
    7419 (VDAC3)
 09150 Organismal Systems
  09151 Immune system
   04621 NOD-like receptor signaling pathway
    7419 (VDAC3)
  09154 Digestive system
   04979 Cholesterol metabolism
    7419 (VDAC3)
 09160 Human Diseases
  09161 Cancer: overview
   05203 Viral carcinogenesis
    7419 (VDAC3)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    7419 (VDAC3)
   05012 Parkinson disease
    7419 (VDAC3)
   05016 Huntington disease
    7419 (VDAC3)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    7419 (VDAC3)
   05161 Hepatitis B
    7419 (VDAC3)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    7419 (VDAC3)
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    7419 (VDAC3)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial protein import machinery
  Outer membrane
   Porin
    7419 (VDAC3)
Ion channels [BR:hsa04040]
 Chloride channels
  Maxi chloride channel (VDAC)
   7419 (VDAC3)
SSDB
Motif
Pfam: Porin_3
Other DBs
NCBI-GeneID: 7419
NCBI-ProteinID: NP_005653
OMIM: 610029
HGNC: 12674
Ensembl: ENSG00000078668
Vega: OTTHUMG00000164168
Pharos: Q9Y277(Tbio)
UniProt: Q9Y277
Position
8p11.21
AA seq 283 aa
MCNTPTYCDLGKAAKDVFNKGYGFGMVKIDLKTKSCSGVEFSTSGHAYTDTGKASGNLET
KYKVCNYGLTFTQKWNTDNTLGTEISWENKLAEGLKLTLDTIFVPNTGKKSGKLKASYKR
DCFSVGSNVDIDFSGPTIYGWAVLAFEGWLAGYQMSFDTAKSKLSQNNFALGYKAADFQL
HTHVNDGTEFGGSIYQKVNEKIETSINLAWTAGSNNTRFGIAAKYMLDCRTSLSAKVNNA
SLIGLGYTQTLRPGVKLTLSALIDGKNFSAGGHKVGLGFELEA
NT seq 852 nt   +upstreamnt  +downstreamnt
atgtgtaacacaccaacgtactgtgacctaggaaaggctgctaaggatgtcttcaacaaa
ggatatggctttggcatggtcaagatagacctgaaaaccaagtcttgtagtggagtggaa
ttttctacttctggtcatgcttacactgatacagggaaagcatcaggcaacctagaaacc
aaatataaggtctgtaactatggacttaccttcacccagaaatggaacacagacaatact
ctagggacagaaatctcttgggagaataagttggctgaagggttgaaactgactcttgat
accatatttgtaccgaacacaggaaagaagagtgggaaattgaaggcctcctataaacgg
gattgttttagtgttggcagtaatgttgatatagatttttctggaccaaccatctatggc
tgggctgtgttggccttcgaagggtggcttgctggctatcagatgagttttgacacagcc
aaatccaaactgtcacagaataatttcgccctgggttacaaggctgcggacttccagctg
cacacacatgtgaacgatggcactgaatttggaggttctatctaccagaaggtgaatgag
aagattgaaacatccataaaccttgcttggacagctgggagtaacaacacccgttttggc
attgctgctaagtacatgctggattgtagaacttctctctctgctaaagtaaataatgcc
agcctgattggactgggttatactcagacccttcgaccaggagtcaaattgactttatca
gctttaatcgatgggaagaacttcagtgcaggaggtcacaaggttggcttgggatttgaa
ctggaagcttaa

KEGG   Homo sapiens (human): 83447
Entry
83447             CDS       T01001                                 

Gene name
SLC25A31, AAC4, ANT_4, ANT4, SFEC35kDa
Definition
(RefSeq) solute carrier family 25 member 31
  KO
K05863  solute carrier family 25 (mitochondrial adenine nucleotide translocator), member 4/5/6/31
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04217  Necroptosis
hsa04218  Cellular senescence
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05016  Huntington disease
hsa05164  Influenza A
hsa05166  Human T-cell leukemia virus 1 infection
Network
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
  Element
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
N00967  VGCC-Ca2+ -apoptotic pathway
N00984  mGluR5-Ca2+ -apoptotic pathway
N00985  Mutation-caused aberrant Htt to mGluR5-Ca2+ -apoptotic pathway
N00987  Mutation-caused aberrant Htt to transport of calcium
N01000  mAChR-Ca2+ -apoptotic pathway
N01001  Mutation-caused aberrant Abeta to mAchR-Ca2+ -apoptotic pathway
N01002  Mutation-caused aberrant Abeta to mGluR5-Ca2+ -apoptotic pathway
N01003  Mutation-caused aberrant Abeta to transport of calcium
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01006  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01007  Mutation-caused aberrant PSEN to mGluR5-Ca2+ -apoptotic pathway
N01008  Mutation-caused aberrant PSEN1 to mGluR5-Ca2+ -apoptotic pathway
N01031  Mutation-caused aberrant SNCA to VGCC-Ca2+ -apoptotic pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    83447 (SLC25A31)
   04022 cGMP-PKG signaling pathway
    83447 (SLC25A31)
 09140 Cellular Processes
  09143 Cell growth and death
   04217 Necroptosis
    83447 (SLC25A31)
   04218 Cellular senescence
    83447 (SLC25A31)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    83447 (SLC25A31)
   05012 Parkinson disease
    83447 (SLC25A31)
   05016 Huntington disease
    83447 (SLC25A31)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    83447 (SLC25A31)
   05164 Influenza A
    83447 (SLC25A31)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    83447 (SLC25A31)
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    83447 (SLC25A31)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial transcription and translation factors
   Other mitochondrial DNA transcription and translation factors
    83447 (SLC25A31)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC25: Mitochondrial carrier
   83447 (SLC25A31)
SSDB
Motif
Pfam: Mito_carr
Other DBs
NCBI-GeneID: 83447
NCBI-ProteinID: NP_112581
OMIM: 610796
HGNC: 25319
Ensembl: ENSG00000151475
Vega: OTTHUMG00000133300
Pharos: Q9H0C2(Tbio)
UniProt: Q9H0C2
Position
4q28.1
AA seq 315 aa
MHREPAKKKAEKRLFDASSFGKDLLAGGVAAAVSKTAVAPIERVKLLLQVQASSKQISPE
ARYKGMVDCLVRIPREQGFFSFWRGNLANVIRYFPTQALNFAFKDKYKQLFMSGVNKEKQ
FWRWFLANLASGGAAGATSLCVVYPLDFARTRLGVDIGKGPEERQFKGLGDCIMKIAKSD
GIAGLYQGFGVSVQGIIVYRASYFGAYDTVKGLLPKPKKTPFLVSFFIAQVVTTCSGILS
YPFDTVRRRMMMQSGEAKRQYKGTLDCFVKIYQHEGISSFFRGAFSNVLRGTGGALVLVL
YDKIKEFFHIDIGGR
NT seq 948 nt   +upstreamnt  +downstreamnt
atgcatcgtgagcctgcgaaaaagaaggcagaaaagcggctgtttgacgcctcatccttc
gggaaggaccttctggccggcggagtcgcggcagctgtgtccaagacagcggtggcgccc
atcgagcgggtgaagctgctgctgcaggtgcaggcgtcgtcgaagcagatcagccccgag
gcgcggtacaaaggcatggtggactgcctggtgcggattcctcgcgagcagggtttcttc
agtttttggcgtggcaatttggcaaatgttattcggtattttccaacacaagctctaaac
tttgcttttaaggacaaatacaagcagctattcatgtctggagttaataaagaaaaacag
ttctggaggtggtttttggcaaacctggcttctggtggagctgctggggcaacatcctta
tgtgtagtatatcctctagattttgcccgaacccgattaggtgtcgatattggaaaaggt
cctgaggagcgacaattcaagggtttaggtgactgtattatgaaaatagcaaaatcagat
ggaattgctggtttataccaagggtttggtgtttcagtacagggcatcattgtgtaccga
gcctcttattttggagcttatgacacagttaagggtttattaccaaagccaaagaaaact
ccatttcttgtctcctttttcattgctcaagttgtgactacatgctctggaatactttct
tatccctttgacacagttagaagacgtatgatgatgcagagtggtgaggctaaacggcaa
tataaaggaaccttagactgctttgtgaagatataccaacatgaaggaatcagttccttt
tttcgtggcgccttctccaatgttcttcgcggtacagggggtgctttggtgttggtatta
tatgataaaattaaagaattctttcatattgatattggtggtaggtaa

DBGET integrated database retrieval system