KEGG   Homo sapiens (human): 8678
Entry
8678              CDS       T01001                                 

Gene name
BECN1, ATG6, VPS30, beclin1
Definition
(RefSeq) beclin 1
  KO
K08334  beclin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04136  Autophagy - other
hsa04137  Mitophagy - animal
hsa04140  Autophagy - animal
hsa04215  Apoptosis - multiple species
hsa04371  Apelin signaling pathway
hsa05010  Alzheimer disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05017  Spinocerebellar ataxia
hsa05131  Shigellosis
hsa05167  Kaposi sarcoma-associated herpesvirus infection
Network
nt06128  Autophagy (viruses)
nt06164  Kaposi sarcoma-associated herpesvirus (KSHV)
nt06228  Autophagy
nt06413  Autophagy
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
  Element
N00155  Autophagy-vesicle nucleation
N00177  KSHV vBCL2 to autophagy-vesicle nucleation
N00962  Mutation-inactivated ATXN3 to autophagy-vesicle nucleation
N00993  Mutation-caused aberrant Htt to autophagy-vesicle nucleation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04371 Apelin signaling pathway
    8678 (BECN1)
 09140 Cellular Processes
  09141 Transport and catabolism
   04140 Autophagy - animal
    8678 (BECN1)
   04136 Autophagy - other
    8678 (BECN1)
   04137 Mitophagy - animal
    8678 (BECN1)
  09143 Cell growth and death
   04215 Apoptosis - multiple species
    8678 (BECN1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    8678 (BECN1)
   05014 Amyotrophic lateral sclerosis
    8678 (BECN1)
   05016 Huntington disease
    8678 (BECN1)
   05017 Spinocerebellar ataxia
    8678 (BECN1)
  09171 Infectious disease: bacterial
   05131 Shigellosis
    8678 (BECN1)
  09172 Infectious disease: viral
   05167 Kaposi sarcoma-associated herpesvirus infection
    8678 (BECN1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    8678 (BECN1)
   03029 Mitochondrial biogenesis [BR:hsa03029]
    8678 (BECN1)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Autophagosome formation proteins
   PI3K complex
    8678 (BECN1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitophagy factors
   Autophagy-related proteins
    8678 (BECN1)
SSDB
Motif
Pfam: APG6 APG6_N BH3 MT HAUS-augmin3 Exonuc_VII_L ERM FPP FTA4 V_ATPase_I NAPRTase_C GAS
Other DBs
NCBI-GeneID: 8678
NCBI-ProteinID: NP_001300927
OMIM: 604378
HGNC: 1034
Ensembl: ENSG00000126581
Vega: OTTHUMG00000180653
Pharos: Q14457(Tbio)
UniProt: Q14457 A0A024R1X5
Structure
PDB: 

Position
17q21.31
AA seq 450 aa
MEGSKTSNNSTMQVSFVCQRCSQPLKLDTSFKILDRVTIQELTAPLLTTAQAKPGETQEE
ETNSGEEPFIETPRQDGVSRRFIPPARMMSTESANSFTLIGEASDGGTMENLSRRLKVTG
DLFDIMSGQTDVDHPLCEECTDTLLDQLDTQLNVTENECQNYKRCLEILEQMNEDDSEQL
QMELKELALEEERLIQELEDVEKNRKIVAENLEKVQAEAERLDQEEAQYQREYSEFKRQQ
LELDDELKSVENQMRYAQTQLDKLKKTNVFNATFHIWHSGQFGTINNFRLGRLPSVPVEW
NEINAAWGQTVLLLHALANKMGLKFQRYRLVPYGNHSYLESLTDKSKELPLYCSGGLRFF
WDNKFDHAMVAFLDCVQQFKEEVEKGETRFCLPYRMDVEKGKIEDTGGSGGSYSIKTQFN
SEEQWTKALKFMLTNLKWGLAWVSSQFYNK
NT seq 1353 nt   +upstreamnt  +downstreamnt
atggaagggtctaagacgtccaacaacagcaccatgcaggtgagcttcgtgtgccagcgc
tgcagccagcccctgaaactggacacgagtttcaagatcctggaccgtgtcaccatccag
gaactcacagctccattacttaccacagcccaggcgaaaccaggagagacccaggaggaa
gagactaactcaggagaggagccatttattgaaactcctcgccaggatggtgtctctcgc
agattcatccccccagccaggatgatgtccacagaaagtgccaacagcttcactctgatt
ggggaggcatctgatggcggcaccatggagaacctcagccgaagactgaaggtcactggg
gacctttttgacatcatgtcgggccagacagatgtggatcacccactctgtgaggaatgc
acagatactcttttagaccagctggacactcagctcaacgtcactgaaaatgagtgtcag
aactacaaacgctgtttggagatcttagagcaaatgaatgaggatgacagtgaacagtta
cagatggagctaaaggagctggcactagaggaggagaggctgatccaggagctggaagac
gtggaaaagaaccgcaagatagtggcagaaaatctcgagaaggtccaggctgaggctgag
agactggatcaggaggaagctcagtatcagagagaatacagtgaatttaaacgacagcag
ctggagctggatgatgagctgaagagtgttgaaaaccagatgcgttatgcccagacgcag
ctggataagctgaagaaaaccaacgtctttaatgcaaccttccacatctggcacagtgga
cagtttggcacaatcaataacttcaggctgggtcgcctgcccagtgttcccgtggaatgg
aatgagattaatgctgcttggggccagactgtgttgctgctccatgctctggccaataag
atgggtctgaaatttcagagataccgacttgttccttacggaaaccattcatatctggag
tctctgacagacaaatctaaggagctgccgttatactgttctggggggttgcggtttttc
tgggacaacaagtttgaccatgcaatggtggctttcctggactgtgtgcagcagttcaaa
gaagaggttgagaaaggcgagacacgtttttgtcttccctacaggatggatgtggagaaa
ggcaagattgaagacacaggaggcagtggcggctcctattccatcaaaacccagtttaac
tctgaggagcagtggacaaaagctctcaagttcatgctgacgaatcttaagtggggtctt
gcttgggtgtcctcacaattttataacaaatga

KEGG   Homo sapiens (human): 5289
Entry
5289              CDS       T01001                                 

Gene name
PIK3C3, VPS34, hVps34
Definition
(RefSeq) phosphatidylinositol 3-kinase catalytic subunit type 3
  KO
K00914  phosphatidylinositol 3-kinase [EC:2.7.1.137]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00562  Inositol phosphate metabolism
hsa01100  Metabolic pathways
hsa04070  Phosphatidylinositol signaling system
hsa04136  Autophagy - other
hsa04140  Autophagy - animal
hsa04145  Phagosome
hsa04371  Apelin signaling pathway
hsa05010  Alzheimer disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05017  Spinocerebellar ataxia
hsa05131  Shigellosis
hsa05132  Salmonella infection
hsa05152  Tuberculosis
hsa05167  Kaposi sarcoma-associated herpesvirus infection
Network
nt06128  Autophagy (viruses)
nt06164  Kaposi sarcoma-associated herpesvirus (KSHV)
nt06228  Autophagy
nt06413  Autophagy
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
  Element
N00155  Autophagy-vesicle nucleation
N00177  KSHV vBCL2 to autophagy-vesicle nucleation
N00962  Mutation-inactivated ATXN3 to autophagy-vesicle nucleation
N00993  Mutation-caused aberrant Htt to autophagy-vesicle nucleation
Drug target
Fimepinostat: D11319
Safingol: D05784
Safingol hydrochloride: D05785
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00562 Inositol phosphate metabolism
    5289 (PIK3C3)
 09130 Environmental Information Processing
  09132 Signal transduction
   04371 Apelin signaling pathway
    5289 (PIK3C3)
   04070 Phosphatidylinositol signaling system
    5289 (PIK3C3)
 09140 Cellular Processes
  09141 Transport and catabolism
   04145 Phagosome
    5289 (PIK3C3)
   04140 Autophagy - animal
    5289 (PIK3C3)
   04136 Autophagy - other
    5289 (PIK3C3)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    5289 (PIK3C3)
   05014 Amyotrophic lateral sclerosis
    5289 (PIK3C3)
   05016 Huntington disease
    5289 (PIK3C3)
   05017 Spinocerebellar ataxia
    5289 (PIK3C3)
  09171 Infectious disease: bacterial
   05132 Salmonella infection
    5289 (PIK3C3)
   05131 Shigellosis
    5289 (PIK3C3)
   05152 Tuberculosis
    5289 (PIK3C3)
  09172 Infectious disease: viral
   05167 Kaposi sarcoma-associated herpesvirus infection
    5289 (PIK3C3)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    5289 (PIK3C3)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.1  Phosphotransferases with an alcohol group as acceptor
    2.7.1.137  phosphatidylinositol 3-kinase
     5289 (PIK3C3)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Macropinocytosis
   Kinases
    5289 (PIK3C3)
  Rab GTPases and associated proteins
   Rab associated proteins
    5289 (PIK3C3)
 Endosome - Lysosome transport
    5289 (PIK3C3)
 Autophagy
  Autophagosome formation proteins
   PI3K complex
    5289 (PIK3C3)
SSDB
Motif
Pfam: PI3Ka PI3_PI4_kinase PI3K_C2 HEAT_2
Other DBs
NCBI-GeneID: 5289
NCBI-ProteinID: NP_002638
OMIM: 602609
HGNC: 8974
Ensembl: ENSG00000078142
Vega: OTTHUMG00000132593
Pharos: Q8NEB9(Tchem)
UniProt: Q8NEB9
Structure
PDB: 

Position
18q12.3
AA seq 887 aa
MGEAEKFHYIYSCDLDINVQLKIGSLEGKREQKSYKAVLEDPMLKFSGLYQETCSDLYVT
CQVFAEGKPLALPVRTSYKAFSTRWNWNEWLKLPVKYPDLPRNAQVALTIWDVYGPGKAV
PVGGTTVSLFGKYGMFRQGMHDLKVWPNVEADGSEPTKTPGRTSSTLSEDQMSRLAKLTK
AHRQGHMVKVDWLDRLTFREIEMINESEKRSSNFMYLMVEFRCVKCDDKEYGIVYYEKDG
DESSPILTSFELVKVPDPQMSMENLVESKHHKLARSLRSGPSDHDLKPNAATRDQLNIIV
SYPPTKQLTYEEQDLVWKFRYYLTNQEKALTKFLKCVNWDLPQEAKQALELLGKWKPMDV
EDSLELLSSHYTNPTVRRYAVARLRQADDEDLLMYLLQLVQALKYENFDDIKNGLEPTKK
DSQSSVSENVSNSGINSAEIDSSQIITSPLPSVSSPPPASKTKEVPDGENLEQDLCTFLI
SRACKNSTLANYLYWYVIVECEDQDTQQRDPKTHEMYLNVMRRFSQALLKGDKSVRVMRS
LLAAQQTFVDRLVHLMKAVQRESGNRKKKNERLQALLGDNEKMNLSDVELIPLPLEPQVK
IRGIIPETATLFKSALMPAQLFFKTEDGGKYPVIFKHGDDLRQDQLILQIISLMDKLLRK
ENLDLKLTPYKVLATSTKHGFMQFIQSVPVAEVLDTEGSIQNFFRKYAPSENGPNGISAE
VMDTYVKSCAGYCVITYILGVGDRHLDNLLLTKTGKLFHIDFGYILGRDPKPLPPPMKLN
KEMVEGMGGTQSEQYQEFRKQCYTAFLHLRRYSNLILNLFSLMVDANIPDIALEPDKTVK
KVQDKFRLDLSDEEAVHYMQSLIDESVHALFAAVVEQIHKFAQYWRK
NT seq 2664 nt   +upstreamnt  +downstreamnt
atgggggaagcagagaagtttcactacatctatagttgtgacctggatatcaacgtccag
cttaagataggaagcttggaagggaagagagaacaaaagagttataaagctgtcctggaa
gacccaatgttgaagttctcaggactatatcaagagacatgctctgatctttatgttact
tgtcaagtttttgcagaagggaagcctttggccttgccagtgagaacatcctacaaagca
tttagtacaagatggaactggaatgaatggctgaaactaccagtaaaataccctgacctg
cccaggaatgcccaagtggccctcaccatatgggatgtgtatggtcccggaaaagcagtg
cctgtaggaggaacaacggtttcgctctttggaaaatacggcatgtttcgccaagggatg
catgacttgaaagtctggcctaatgtagaagcagatggatcagaacccacaaaaactcct
ggcagaacaagtagcactctctcagaagatcagatgagccgtcttgccaagctcaccaaa
gctcatcgacaaggacacatggtgaaagtagattggctggatagattgacatttagagaa
atagaaatgataaatgagagtgaaaaacgaagttctaatttcatgtacctgatggttgaa
tttcgatgtgtcaagtgtgatgataaggaatatggtattgtttattatgaaaaggacggt
gatgaatcatctccaattttaacaagttttgaattagtgaaagttcctgacccccagatg
tctatggagaatttagttgagagcaaacaccacaagcttgcccggagtttaagaagtgga
ccttctgaccacgatctgaaacccaatgctgccacgagagatcagttaaatattattgtg
agttatccaccaaccaagcaacttacatatgaagaacaagatcttgtttggaagtttaga
tattatcttacgaatcaagaaaaagccttgacaaaattcttgaaatgtgttaattgggat
ctacctcaagaggccaaacaggccttggaacttctgggaaaatggaagccgatggatgta
gaggactccttggagctgttatcctctcattacaccaacccaactgtgaggcgttatgct
gttgcccggttgcgacaggccgatgatgaggatttgttgatgtacctattacaattggtc
caggctctcaaatatgaaaattttgatgatataaagaatggattggaacctaccaagaag
gatagtcagagttcagtgtcagaaaatgtgtcaaattctggaataaattctgcagaaata
gatagctcccaaattataaccagcccccttccttcagtctcttcacctcctcctgcatca
aaaacaaaagaagttccagatggcgaaaatctggaacaagatctctgtaccttcttgata
tcgagagcctgcaaaaactcaacactggctaattatttatactggtatgtgatagtggaa
tgtgaagatcaagatactcagcagagagatccaaagacccatgagatgtacttgaacgta
atgagaagattcagccaagcattgttgaagggtgataagtctgtcagagttatgcgttct
ttgctggctgcacaacagacatttgtagatcggttggtgcatctaatgaaggcagtacaa
cgcgaaagtggaaatcgtaagaaaaagaatgagagactacaggcattgcttggagataat
gaaaagatgaatttgtcagatgtggaacttatcccgttgcctttagaaccccaagtgaaa
attagaggaataattccggaaacagctacactgtttaaaagtgcccttatgcctgcacag
ttgttttttaagacggaagatggaggcaaatatccagttatatttaagcatggagatgat
ttacgtcaagatcaacttattcttcaaatcatttcactcatggacaagctgttacggaaa
gaaaatctggacttgaaattgacaccttataaggtgttagccaccagtacaaaacatggc
ttcatgcagtttatccagtcagttcctgtggctgaagttcttgatacagagggaagcatt
cagaacttttttagaaaatatgcaccaagtgagaatgggccaaatgggattagtgctgag
gtcatggacacttacgttaaaagctgtgctggatattgcgtgatcacctatatacttgga
gttggagacaggcacctggataaccttttgctaacaaaaacaggcaaactcttccacata
gactttggatatattttgggtcgggatccaaagcctcttcctccaccaatgaagctgaat
aaagaaatggtagaaggaatggggggcacacagagtgagcagtaccaagagttccgtaaa
cagtgttacacggctttcctccacctgcgaaggtattctaatctgattttgaacttgttt
tccttgatggttgatgcaaacattccagatattgcacttgaaccagataaaactgtgaaa
aaggttcaggataaattccgcttagacctgtcggatgaagaggctgtgcattacatgcag
agtctgattgatgagagtgtccatgctctttttgctgcagtggtggaacagattcacaag
tttgcccagtactggagaaaatga

KEGG   Homo sapiens (human): 22863
Entry
22863             CDS       T01001                                 

Gene name
ATG14, ATG14L, BARKOR, KIAA0831
Definition
(RefSeq) autophagy related 14
  KO
K17889  beclin 1-associated autophagy-related key regulator
Organism
hsa  Homo sapiens (human)
Pathway
hsa04140  Autophagy - animal
hsa05010  Alzheimer disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05017  Spinocerebellar ataxia
hsa05131  Shigellosis
hsa05167  Kaposi sarcoma-associated herpesvirus infection
Network
nt06128  Autophagy (viruses)
nt06164  Kaposi sarcoma-associated herpesvirus (KSHV)
nt06228  Autophagy
nt06413  Autophagy
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
  Element
N00155  Autophagy-vesicle nucleation
N00177  KSHV vBCL2 to autophagy-vesicle nucleation
N00962  Mutation-inactivated ATXN3 to autophagy-vesicle nucleation
N00993  Mutation-caused aberrant Htt to autophagy-vesicle nucleation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04140 Autophagy - animal
    22863 (ATG14)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    22863 (ATG14)
   05014 Amyotrophic lateral sclerosis
    22863 (ATG14)
   05016 Huntington disease
    22863 (ATG14)
   05017 Spinocerebellar ataxia
    22863 (ATG14)
  09171 Infectious disease: bacterial
   05131 Shigellosis
    22863 (ATG14)
  09172 Infectious disease: viral
   05167 Kaposi sarcoma-associated herpesvirus infection
    22863 (ATG14)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    22863 (ATG14)
   03029 Mitochondrial biogenesis [BR:hsa03029]
    22863 (ATG14)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Autophagosome formation proteins
   PI3K complex
    22863 (ATG14)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitophagy factors
   Autophagy-related proteins
    22863 (ATG14)
SSDB
Motif
Pfam: Atg14 MnmE_helical Exonuc_VII_L HsdM_N
Other DBs
NCBI-GeneID: 22863
NCBI-ProteinID: NP_055739
OMIM: 613515
HGNC: 19962
Ensembl: ENSG00000126775
Vega: OTTHUMG00000172129
Pharos: Q6ZNE5(Tbio)
UniProt: Q6ZNE5
Position
14q22.3
AA seq 492 aa
MASPSGKGARALEAPGCGPRPLARDLVDSVDDAEGLYVAVERCPLCNTTRRRLTCAKCVQ
SGDFVYFDGRDRERFIDKKERLSRLKSKQEEFQKEVLKAMEGKWITDQLRWKIMSCKMRI
EQLKQTICKGNEEMEKNSEGLLKTKEKNQKLYSRAQRHQEKKEKIQRHNRKLGDLVEKKT
IDLRSHYERLANLRRSHILELTSVIFPIEEVKTGVRDPADVSSESDSAMTSSTVSKLAEA
RRTTYLSGRWVCDDHNGDTSISITGPWISLPNNGDYSAYYSWVEEKKTTQGPDMEQSNPA
YTISAALCYATQLVNILSHILDVNLPKKLCNSEFCGENLSKQKFTRAVKKLNANILYLCF
SQHVNLDQLQPLHTLRNLMYLVSPSSEHLGRSGPFEVRADLEESMEFVDPGVAGESDESG
DERVSDEETDLGTDWENLPSPRFCDIPSQSVEVSQSQSTQASPPIASSSAGGMISSAAAS
VTSWFKAYTGHR
NT seq 1479 nt   +upstreamnt  +downstreamnt
atggcgtctcccagtgggaagggagcccgggcgctggaggctcctggctgcgggccccgg
ccgctcgcccgggacctggtggactccgtggacgatgcggaggggctgtacgtggctgtg
gagcgctgcccgctgtgcaacactacccgccggcggctgacctgcgccaaatgcgttcag
agcggcgatttcgtctacttcgacggccgcgaccgggagaggtttatcgacaagaaggaa
aggttaagccgacttaagagcaagcaagaagaatttcagaaagaagtgttaaaagctatg
gaaggaaaatggataacagatcagttgagatggaaaataatgtcctgcaagatgaggatt
gaacagttaaaacaaacaatatgtaaaggaaatgaagaaatggagaaaaattctgaaggc
cttctcaaaaccaaggaaaagaatcagaagctttacagtcgagcacaacggcaccaagag
aaaaaggagaagattcagaggcataatcgcaaacttggtgacctggtagaaaaaaagacc
attgacttaagaagtcattatgagcgtctggcaaatcttcgacgatcccatatattagag
ctcacctctgtcatttttccaatcgaggaagtaaagacgggtgtgagagaccccgcagat
gtgtcttcagagagtgacagtgccatgacctccagcactgtgagcaagcttgctgaagcc
cggaggacaacttacctctcaggacgatgggtctgtgacgatcacaacggagacaccagc
attagcattacagggccttggattagcctccctaacaatggggactactctgcctactac
agctgggtggaggagaagaaaacaacccaggggcctgacatggagcagagtaaccctgcc
tacaccatcagtgctgcgctgtgctatgcaactcagctggtcaacattctgtctcatata
cttgatgtaaatcttcccaaaaagctctgcaacagtgaattttgtggcgaaaatctaagc
aagcagaaatttactcgagcagtgaagaaactgaatgcaaatattctttacctttgtttt
tctcagcatgtaaatttagatcaattacaaccactgcataccctcaggaatctaatgtac
ctggtcagtccaagctctgaacacctaggcaggtcagggccctttgaagtacgagcagac
cttgaggagtccatggaatttgtggatcccggagttgctggagaatcagatgagagcgga
gatgagcgcgtcagcgatgaagaaaccgacctgggcacagactgggagaacttgcctagt
ccccggttttgtgatatcccttcccagtctgtggaagtctcccagagtcagagcacccag
gcgtccccacccatcgcgagcagcagtgcaggtgggatgatctcctctgcagcagcctcg
gtgacctcctggtttaaagcttacactggacaccgttaa

KEGG   Homo sapiens (human): 30849
Entry
30849             CDS       T01001                                 

Gene name
PIK3R4, VPS15, p150
Definition
(RefSeq) phosphoinositide-3-kinase regulatory subunit 4
  KO
K08333  phosphoinositide-3-kinase, regulatory subunit 4 [EC:2.7.11.1]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04136  Autophagy - other
hsa04140  Autophagy - animal
hsa04371  Apelin signaling pathway
hsa05010  Alzheimer disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05017  Spinocerebellar ataxia
hsa05131  Shigellosis
Network
nt06128  Autophagy (viruses)
nt06164  Kaposi sarcoma-associated herpesvirus (KSHV)
nt06228  Autophagy
nt06413  Autophagy
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
  Element
N00155  Autophagy-vesicle nucleation
N00962  Mutation-inactivated ATXN3 to autophagy-vesicle nucleation
N00993  Mutation-caused aberrant Htt to autophagy-vesicle nucleation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04371 Apelin signaling pathway
    30849 (PIK3R4)
 09140 Cellular Processes
  09141 Transport and catabolism
   04140 Autophagy - animal
    30849 (PIK3R4)
   04136 Autophagy - other
    30849 (PIK3R4)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    30849 (PIK3R4)
   05014 Amyotrophic lateral sclerosis
    30849 (PIK3R4)
   05016 Huntington disease
    30849 (PIK3R4)
   05017 Spinocerebellar ataxia
    30849 (PIK3R4)
  09171 Infectious disease: bacterial
   05131 Shigellosis
    30849 (PIK3R4)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    30849 (PIK3R4)
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    30849 (PIK3R4)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.11  Protein-serine/threonine kinases
    2.7.11.1  non-specific serine/threonine protein kinase
     30849 (PIK3R4)
Protein kinases [BR:hsa01001]
 Serine/threonine kinases: Other
  VPS15 family
   30849 (PIK3R4)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Rab GTPases and associated proteins
   Rab associated proteins
    30849 (PIK3R4)
 Autophagy
  Autophagosome formation proteins
   PI3K complex
    30849 (PIK3R4)
SSDB
Motif
Pfam: Pkinase WD40 HEAT PK_Tyr_Ser-Thr IFRD HEAT_2
Other DBs
NCBI-GeneID: 30849
NCBI-ProteinID: NP_055417
OMIM: 602610
HGNC: 8982
Ensembl: ENSG00000196455
Vega: OTTHUMG00000159645
Pharos: Q99570(Tbio)
UniProt: Q99570
Position
3q22.1
AA seq 1358 aa
MGNQLAGIAPSQILSVESYFSDIHDFEYDKSLGSTRFFKVARAKHREGLVVVKVFAIQDP
TLPLTSYKQELEELKIRLNSAQNCLPFQKASEKASEKAAMLFRQYVRDNLYDRISTRPFL
NNIEKRWIAFQILTAVDQAHKSGVRHGDIKTENVMVTSWNWVLLTDFASFKPTYLPEDNP
ADFNYFFDTSRRRTCYIAPERFVDGGMFATELEYMRDPSTPLVDLNSNQRTRGELKRAMD
IFSAGCVIAELFTEGVPLFDLSQLLAYRNGHFFPEQVLNKIEDHSIRELVTQMIHREPDK
RLEAEDYLKQQRGNAFPEIFYTFLQPYMAQFAKETFLSADERILVIRKDLGNIIHNLCGH
DLPEKAEGEPKENGLVILVSVITSCLQTLKYCDSKLAALELILHLAPRLSVEILLDRITP
YLLHFSNDSVPRVRAEALRTLTKVLALVKEVPRNDINIYPEYILPGIAHLAQDDATIVRL
AYAENIALLAETALRFLELVQLKNLNMENDPNNEEIDEVTHPNGNYDTELQALHEMVQQK
VVTLLSDPENIVKQTLMENGITRLCVFFGRQKANDVLLSHMITFLNDKNDWHLRGAFFDS
IVGVAAYVGWQSSSILKPLLQQGLSDAEEFVIVKALYALTCMCQLGLLQKPHVYEFASDI
APFLCHPNLWIRYGAVGFITVVARQISTADVYCKLMPYLDPYITQPIIQIERKLVLLSVL
KEPVSRSIFDYALRSKDITSLFRHLHMRQKKRNGSLPDCPPPEDPAIAQLLKKLLSQGMT
EEEEDKLLALKDFMMKSNKAKANIVDQSHLHDSSQKGVIDLAALGITGRQVDLVKTKQEP
DDKRARKHVKQDSNVNEEWKSMFGSLDPPNMPQALPKGSDQEVIQTGKPPRSESSAGICV
PLSTSSQVPEVTTVQNKKPVIPVLSSTILPSTYQIRITTCKTELQQLIQQKREQCNAERI
AKQMMENAEWESKPPPPGWRPKGLLVAHLHEHKSAVNRIRVSDEHSLFATCSNDGTVKIW
NSQKMEGKTTTTRSILTYSRIGGRVKTLTFCQGSHYLAIASDNGAVQLLGIEASKLPKSP
KIHPLQSRILDQKEDGCVVDMHHFNSGAQSVLAYATVNGSLVGWDLRSSSNAWTLKHDLK
SGLITSFAVDIHQCWLCIGTSSGTMACWDMRFQLPISSHCHPSRARIRRLSMHPLYQSWV
IAAVQGNNEVSMWDMETGDRRFTLWASSAPPLSELQPSPHSVHGIYCSPADGNPILLTAG
SDMKIRFWDLAYPERSYVVAGSTSSPSVSYYRKIIEGTEVVQEIQNKQKVGPSDDTPRRG
PESLPVGHHDIITDVATFQTTQGFIVTASRDGIVKVWK
NT seq 4077 nt   +upstreamnt  +downstreamnt
atgggaaatcagcttgctggcattgctccctcccagatcctttctgtagagagttatttt
tcagatattcatgactttgaatatgataaaagcctggggagtactcggttttttaaagtt
gctcgagccaagcaccgagaaggcctggtcgttgtgaaggtttttgcaattcaggatccc
acattgcctttaaccagctataaacaagagctggaggaactgaaaatcaggcttaattct
gcacagaattgtctacctttccagaaagcatcagaaaaagcatctgagaaagcagctatg
ctctttaggcagtatgtgcgagacaatctctatgatcgcatcagtacccgtccattcttg
aataacattgagaagcgctggattgctttccagatcctgacagctgtggaccaagcacac
aaatctggagttcgtcatggggacatcaagactgagaatgtgatggtcaccagttggaat
tgggttcttctaactgattttgccagttttaagcccacttatcttccagaagacaacccg
gcagatttcaattatttctttgacacatcacggaggagaacttgctatattgctcctgaa
cgttttgttgatggtgggatgtttgccactgagttagaatatatgagagatccttcaact
ccgcttgtagacttaaatagcaatcagagaacaagaggagagttgaagagagcaatggac
atcttttcagcaggttgtgtgatagctgagctttttacagaaggtgtaccattatttgat
ctctctcaacttttggcttatagaaatggacattttttccctgaacaagtgctaaataaa
attgaagatcacagtatcagagaattggtaactcagatgattcaccgtgagccagataaa
cgtttagaggcagaagattacttaaaacagcagcgtggcaatgcctttcctgaaatattt
tacacttttcttcagccctacatggcccagtttgccaaggaaacgtttctttctgcagat
gagcgtattctggttatacggaaggatttgggcaacattattcacaatctctgtggacat
gatctgccagaaaaagccgaaggagagcctaaggaaaatgggctggttatcttggtatct
gttataacatcctgcctacagacccttaaatactgtgattccaaactagctgctttggaa
ctgattcttcatttggctccaagattaagtgttgaaatccttttggatcgtattactcca
tatcttttgcatttcagcaatgactctgttcctagggtgagggctgaagccttgaggacg
ttgaccaaagttcttgctctcgtcaaagaggttcctcgtaatgatatcaatatttatccg
gaatacattctgccaggcatagcccacttagcccaagatgatgctactatcgttagacta
gcctatgctgaaaacatagctctgctggcagaaacagctctgagattcctggaattagta
cagttaaaaaatcttaatatggaaaatgaccccaataatgaagaaatagatgaggttaca
catccaaatggaaattatgacacagagctccaagccttacatgaaatggtccagcagaaa
gttgttactttgctaagtgaccctgaaaatattgtaaaacaaaccttgatggaaaatgga
ataacacggctgtgtgtattctttggacgtcagaaagccaacgatgttttgttgtcccac
atgattactttcctaaatgataagaatgattggcatctacgtggagcattttttgatagt
atagttggtgttgctgcctatgttggctggcaaagctcctcaattctcaagcctctgctg
caacaaggtcttagtgatgctgaggaatttgtcattgtgaaagctctttatgcccttact
tgtatgtgccagttaggactgctacaaaaaccccatgtttacgaatttgccagtgatatt
gcccccttcctgtgtcatcccaatttatggatacgttatggtgccgtgggatttatcaca
gtggtagctcgtcaaataagtacagctgatgtctactgtaaactgatgccttatcttgac
ccatatattacccaaccaataatacagattgaaagaaaacttgttctgctcagtgtttta
aaggaaccagtaagtcgttctatatttgattatgctttgaggtctaaagatattactagc
ttgttcagacatcttcacatgcgtcagaagaaacgaaatggttctcttcccgactgccct
ccgccagaggatcctgccatagcacagcttctgaagaagttgctctcacagggaatgaca
gaggaagaggaagacaaacttctggcactgaaagacttcatgatgaaatctaataaagca
aaggccaatatagtggaccagagccatcttcatgatagtagtcagaaaggtgtaattgac
ttggcagctttaggcataactgggagacaagttgatcttgttaaaaccaaacaagaacca
gatgacaaacgggccagaaaacatgtaaaacaagactcaaatgtaaatgaagaatggaaa
agcatgtttgggtcactggacccaccaaacatgccacaggccctacctaaagggagtgat
caggaggtgattcagactgggaaacctcctcgttccgagtcctctgctggcatttgtgtc
cctttgtcaacttcttcacaggttccagaagtgacaactgtccaaaataaaaaaccagta
ataccggttttaagtagtacaatcttaccatccacctatcagattcgaattacaacttgt
aaaactgaacttcagcaactcatccagcaaaagcgggagcagtgcaatgctgagagaata
gctaagcagatgatggaaaatgctgaatgggagagtaaaccaccaccacctggatggcgt
cctaaagggctgttagttgcccatcttcatgagcataaatctgctgtgaatcgaattaga
gtctctgatgaacactcactttttgcaacatgttcaaatgatggcacagtgaaaatctgg
aacagtcaaaagatggaggggaagaccaccactaccagatctattcttacatacagccga
attggaggacgagtcaagacgctcacattctgccaaggctcccactatttagccatagca
tctgataatggtgctgtccagcttcttggaattgaggcttctaagctgcccaagtctcct
aaaatccatcctctacaaagcagaattctagatcagaaggaggacggttgtgttgtggat
atgcatcacttcaactctggagcacagtctgttcttgcctatgccactgtgaatggctct
ctggttggctgggaccttaggtcttcaagcaatgcgtggactttaaagcatgatttaaag
tcgggcctcatcacttcctttgctgtggacatccaccaatgctggctctgcattggtaca
agcagtggtaccatggcttgttgggacatgaggttccagttgccaatttcaagtcactgt
catccttccagggctcgaatcagacgcctctcaatgcaccctctgtatcagtcctgggtg
attgcagctgttcagggcaacaacgaagtgtccatgtgggacatggagactggtgacaga
agatttactctctgggccagcagtgcaccaccactttctgaattacagccttctcctcat
agcgtccatggtatctactgtagtcctgcagatggaaatcctatcctactaacagctggc
tcagatatgaaaataaggttttgggacttggcttacccagaaaggtcctatgttgttgca
ggaagtactagttccccatctgtgtcctactacaggaaaataattgaaggcactgaagtt
gtccaggaaattcagaataagcagaaagtaggaccaagtgatgacacccctcgaaggggc
ccagagtccctgcccgtgggacatcatgacatcatcactgatgtcgccacattccagacc
acacagggcttcatcgtaactgcttctagagatgggattgtgaaggtgtggaaataa

KEGG   Homo sapiens (human): 55626
Entry
55626             CDS       T01001                                 

Gene name
AMBRA1, DCAF3, WDR94
Definition
(RefSeq) autophagy and beclin 1 regulator 1
  KO
K17985  activating molecule in BECN1-regulated autophagy protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04137  Mitophagy - animal
hsa04140  Autophagy - animal
hsa05010  Alzheimer disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05017  Spinocerebellar ataxia
Network
nt06128  Autophagy (viruses)
nt06164  Kaposi sarcoma-associated herpesvirus (KSHV)
nt06228  Autophagy
nt06413  Autophagy
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
  Element
N00155  Autophagy-vesicle nucleation
N00962  Mutation-inactivated ATXN3 to autophagy-vesicle nucleation
N00993  Mutation-caused aberrant Htt to autophagy-vesicle nucleation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04140 Autophagy - animal
    55626 (AMBRA1)
   04137 Mitophagy - animal
    55626 (AMBRA1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    55626 (AMBRA1)
   05014 Amyotrophic lateral sclerosis
    55626 (AMBRA1)
   05016 Huntington disease
    55626 (AMBRA1)
   05017 Spinocerebellar ataxia
    55626 (AMBRA1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    55626 (AMBRA1)
   03029 Mitochondrial biogenesis [BR:hsa03029]
    55626 (AMBRA1)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Mitophagy
   PINK1-Parkin associated proteins
    55626 (AMBRA1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitophagy factors
   Parkin-dependent mechanism factors
    55626 (AMBRA1)
SSDB
Motif
Pfam: ANAPC4_WD40 WD40 eIF2A Spt20 Acyl_CoA_thio
Other DBs
NCBI-GeneID: 55626
NCBI-ProteinID: NP_001254711
OMIM: 611359
HGNC: 25990
Ensembl: ENSG00000110497
Vega: OTTHUMG00000166500
Pharos: Q9C0C7(Tbio)
UniProt: Q9C0C7
Position
11p11.2
AA seq 1301 aa
MKVVPEKNAVRILWGRERGARAMGAQRLLQELVEDKTRWMKWEGKRVELPDSPRSTFLLA
FSPDRTLLASTHVNHNIYITEVKTGKCVHSLIGHRRTPWCVTFHPTISGLIASGCLDGEV
RIWDLHGGSESWFTDSNNAIASLAFHPTAQLLLIATANEIHFWDWSRREPFAVVKTASEM
ERVRLVRFDPLGHYLLTAIVNPSNQQGDDEPEIPIDGTELSHYRQRALLQSQPVRRTPLL
HNFLHMLSSRSSGIQTEPFHPPEQASSTQQDQGLLNRPSAFSTVQSSTAGNTLRNLSLGP
TRRSLGGPLSSHPSRYHREIAPGLTGSEWTRTVLSLNSRSEAESMPPPRTSASSVSLLSV
LRQQEGGSQASVYTSATEGRGFPASGLATESDGGNGSSQNNSGSIRHELQCDLRRFFLEY
DRLQELDQSLSGEAPQTQQAQEMLNNNIESERPGPSHQPTPHSSENNSNLSRGHLNRCRA
CHNLLTFNNDTLRWERTTPNYSSGEASSSWQVPSSFESVPSSGSQLPPLERTEGQTPSSS
RLELSSSASPQEERTVGVAFNQETGHWERIYTQSSRSGTVSQEALHQDMPEESSEEDSLR
RRSLALSPRLEYSGAILAHCKLRLPGSCHSPASASQVAGTTGAHHHARLIFAFLVEMEFH
HVSQAGLELLTSGDLPTSASQSAGITGVSHRAWPRLLESSLISLSRYDGAGSREHPIYPD
PARLSPAAYYAQRMIQYLSRRDSIRQRSMRYQQNRLRSSTSSSSSDNQGPSVEGTDLEFE
DFEDNGDRSRHRAPRNARMSAPSLGRFVPRRFLLPEYLPYAGIFHERGQPGLATHSSVNR
VLAGAVIGDGQSAVASNIANTTYRLQWWDFTKFDLPEISNASVNVLVQNCKIYNDASCDI
SADGQLLAAFIPSSQRGFPDEGILAVYSLAPHNLGEMLYTKRFGPNAISVSLSPMGRYVM
VGLASRRILLHPSTEHMVAQVFRLQQAHGGETSMRRVFNVLYPMPADQRRHVSINSARWL
PEPGLGLAYGTNKGDLVICRPEALNSGVEYYWDQLNETVFTVHSNSRSSERPGTSRATWR
TDRDMGLMNAIGLQPRNPATSVTSQGTQTLALQLQNAETQTEREVPEPGTAASGPGEGEG
SEYGASGEDALSRIQRLMAEGGMTAVVQREQSTTMASMGGFGNNIIVSHRIHRSSQTGTE
PGAAHTSSPQPSTSRGLLPEAGQLAERGLSPRTASWDQPGTPGREPTQPTLPSSSPVPIP
VSLPSAEGPTLHCELTNNNHLLDGGSSRGDAAGPRGEPRNR
NT seq 3906 nt   +upstreamnt  +downstreamnt
atgaaggttgtcccagaaaagaatgctgtccggatactctgggggcgagaacggggtgct
cgggccatgggagctcagcggcttctgcaggagctggtagaagataaaacccggtggatg
aaatgggagggcaagagagtagaactgccggatagtccacgctctaccttcttattggcc
ttcagcccagacaggactctcttagcctccacccatgtgaaccataatatctatattacg
gaggtgaagactggcaagtgtgttcattccctgattggacaccgccgtactccatggtgt
gtcacttttcatcccaccatctcaggccttattgcttctggctgcctagatggggaggtt
aggatttgggatttacacggtggcagtgaaagctggttcacagatagcaacaatgccatt
gcctccctggctttccaccctacggctcagctcctgctgattgccactgccaatgagatc
cacttctgggactggagtcgacgggaaccctttgctgtggtgaagacagctagtgagatg
gaacgggtccgtctggtgagatttgatccacttggacactacttactcacagcaattgtt
aacccctctaatcaacagggtgatgacgaaccagagatccccatagatggaacagaatta
tcccactaccgtcagcgtgccctcctgcaatcacagccagttcgccggacgcctctcctc
cacaatttcctgcacatgctgtcctcccgctcttctggcatccagaccgagcccttccat
cccccggagcaggcctcgtcaacgcagcaggaccagggcctcctgaaccggccgtctgcc
ttcagtacagtccagagcagcactgccggcaacacgctccgcaacctcagtctgggtcct
acccgccgctctttgggagggcctctgtctagccacccttctaggtatcaccgagaaata
gctcctgggttgacaggatctgagtggacccggacagtactcagtctgaactcccgctct
gaggcggaatccatgcccccgcccagaaccagtgcctcttcggtgagtttgctgtctgtg
ctgagacagcaggaaggtggctctcaggcatctgtgtacacttcagccacagaagggagg
ggttttccggcatcagggttggcaactgagtcagatggagggaatggctccagccaaaac
aactcgggcagcattcgccatgagcttcagtgtgacctgagacgcttctttctggagtat
gaccggcttcaggagctggatcagagcctgagtggggaagctccccagacccaacaggcc
caggaaatgctcaacaataacattgaatctgagaggccaggcccttcccaccagcccacc
ccacacagcagtgagaacaactccaacctgtcccgtggccacctgaatcgctgtcgtgct
tgccacaatctcctgaccttcaacaacgataccctgcgctgggaaagaaccacacctaac
tactcctctggcgaggctagttcctcttggcaggtccccagctcctttgagagtgtgcca
tcaagtggcagccagttgccacctctcgagcggactgagggccaaacgcccagctccagc
aggctggagttgagcagctctgctagtccgcaggaggagaggactgtgggggtggccttt
aaccaggagacaggccactgggaaagaatttacacccagtccagcagatctggaactgtg
tcacaggaggccttacatcaggatatgcctgaggagagctctgaggaggattcactcagg
agacggagtcttgctctgtcacctaggctggagtacagcggcgctatcttggctcactgc
aagctccgcctcccaggttcatgccattctcctgcctcagcttcccaagtagctgggact
acgggagcccaccaccacgcccggctaatttttgcatttttagtagagatggagtttcac
catgttagccaggctggtctcgaactcctgacctcaggtgatctgcccacctcggcctcc
caaagtgctgggattacaggcgtgagccaccgcgcctggccgaggctgctggaatcttcc
ctcatttcattatcccgttatgatggagcaggatccagagagcacccaatttacccagac
ccagcgagattatctcctgctgcatactacgcccagaggatgatccagtatctctcacgg
agagacagtattcgccagcgctccatgcgctaccaacagaaccgtctccgttcttccacc
tcctcctcttcctcagacaaccagggtccatcagtagagggaaccgacttggaatttgag
gactttgaggacaatggtgacagatccaggcaccgagctccacgcaatgcccggatgtct
gcaccttcgcttggacgctttgtcccaaggcgtttcttgctgcctgagtacttgccttat
gctgggatttttcatgaacgtggacagcctggcttggctactcactcttctgttaacagg
gtcctggcaggggcagtgatcggtgatggacagtctgctgtggccagtaacattgccaat
actacctaccggctccagtggtgggacttcactaagtttgacctccctgaaatcagtaat
gcttccgtgaatgtgctggtgcagaactgcaagatctacaatgatgccagctgtgacatt
tctgcagatggccagctcctggcagctttcatccccagcagccagaggggctttcctgat
gaaggcatcctggcagtgtactccctggccccccataacctgggcgaaatgctctacacc
aagcgatttggtcccaatgccatttcggtgagcctgtccccaatgggcagatatgtaatg
gtgggcttggcctcacgaaggatcctgctgcacccctccacagagcacatggtggcccag
gtcttcaggctgcaacaggcccatggtggagagacctccatgaggagagttttcaacgtc
ctttatcccatgcctgccgaccagcggagacatgtcagtatcaactctgcccgttggctg
cctgagccagggcttggcttggcctatggtactaacaaaggagacctggtgatctgccga
ccagaggccttaaactctggtgttgagtactactgggaccagctgaacgagacggtcttc
actgtccattccaacagcaggagcagcgagcggcctggaaccagcagagccacatggagg
acagacagagacatggggctgatgaatgccattgggcttcagccccggaaccctgccacc
tcagtgacatctcagggcacccagactctggcccttcagctgcagaatgccgaaacacag
actgagagggaggtgccggagccagggacagccgcctcaggtcctggtgaaggtgagggt
tcagagtatggtgccagtggagaagatgcgctcagcaggatccagaggctgatggcggag
ggcggcatgacagccgtggtgcagcgggagcagagcaccaccatggcctccatgggcggc
ttcggcaacaacatcatcgtcagccaccgcattcaccgcagctctcagacgggcactgaa
cctggtgccgcccacacctcctcaccccagccctccacctctcggggactgctcccagag
gccgggcaactggcagagcgaggcctaagcccccggacagcttcctgggaccagcctggt
acccctgggcgggagccaacccagccaaccctgccctcttcctcccctgtccccattcct
gtttcccttcccagcgctgagggaccaaccctccactgcgagttgaccaataacaaccac
cttctggatggtggcagcagcaggggggacgctgcaggccctaggggagaaccacggaac
aggtag

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