KEGG   Homo sapiens (human): 10452
Entry
10452             CDS       T01001                                 

Gene name
TOMM40, C19orf1, D19S1177E, PER-EC1, PEREC1, TOM40
Definition
(RefSeq) translocase of outer mitochondrial membrane 40
  KO
K11518  mitochondrial import receptor subunit TOM40
Organism
hsa  Homo sapiens (human)
Pathway
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    10452 (TOMM40)
   05022 Pathways of neurodegeneration - multiple diseases
    10452 (TOMM40)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    10452 (TOMM40)
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    10452 (TOMM40)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial protein import machinery
  Outer membrane
   Transporter outer membrane (TOM) complex
    10452 (TOMM40)
Transporters [BR:hsa02000]
 Other transporters
  Primary active transporters [TC:3]
   10452 (TOMM40)
SSDB
Motif
Pfam: Porin_3
Other DBs
NCBI-GeneID: 10452
NCBI-ProteinID: NP_001122388
OMIM: 608061
HGNC: 18001
Ensembl: ENSG00000130204
Vega: OTTHUMG00000180842
Pharos: O96008(Tbio)
UniProt: O96008
Position
19q13.32
AA seq 361 aa
MGNVLAASSPPAGPPPPPAPALVGLPPPPPSPPGFTLPPLGGSLGAGTSTSRSSERTPGA
ATASASGAAEDGACGCLPNPGTFEECHRKCKELFPIQMEGVKLTVNKGLSNHFQVNHTVA
LSTIGESNYHFGVTYVGTKQLSPTEAFPVLVGDMDNSGSLNAQVIHQLGPGLRSKMAIQT
QQSKFVNWQVDGEYRGSDFTAAVTLGNPDVLVGSGILVAHYLQSITPCLALGGELVYHRR
PGEEGTVMSLAGKYTLNNWLATVTLGQAGMHATYYHKASDQLQVGVEFEASTRMQDTSVS
FGYQLDLPKANLLFKGSVDSNWIVGATLEKKLPPLPLTLALGAFLNHRKNKFQCGFGLTI
G
NT seq 1086 nt   +upstreamnt  +downstreamnt
atggggaacgtgttggctgccagctcgccgcccgcagggccgccaccgccgcctgcgccg
gccctcgtggggctgccgccacctccgccctcgccgccgggcttcacgctgccgccgctg
ggaggcagcctgggcgccggcaccagtacgagtcgaagttcggaacggacccccggggct
gcaaccgccagcgcctcaggggccgccgaggatggggcctgcggctgcctgcccaacccg
ggcacattcgaggagtgccaccggaagtgcaaggagctgtttcccattcagatggagggt
gtcaagctcacagtcaacaaagggttgagtaaccattttcaggtcaaccacacagtagcc
ctcagcacaatcggggagtccaactaccacttcggggtcacatatgtggggacaaagcag
ctgagtcccacagaggcgttccctgtactggtgggtgacatggacaacagtggcagtctc
aacgctcaggtcattcaccagctgggccccggtctcaggtccaagatggccatccagacc
cagcagtcgaagtttgtgaactggcaggtggacggggagtatcggggctctgacttcaca
gcagccgtcaccctggggaacccagacgtcctcgtgggttcaggaatcctcgtagcccac
tacctccagagcatcacgccttgcctggccctgggtggagagctggtctaccaccggcgg
cctggagaggagggcactgtcatgtctctagctgggaaatacacattgaacaactggttg
gcaacggtaacgttgggccaggcgggcatgcacgcaacatactaccacaaagccagtgac
cagctgcaggtgggtgtggagtttgaggccagcacaaggatgcaggacaccagcgtctcc
ttcgggtaccagctggacctgcccaaggccaacctcctcttcaaaggctctgtggatagc
aactggatcgtgggtgccacgctggagaagaagctcccacccctgcccctgacactggcc
cttggggccttcctgaatcaccgcaagaacaagtttcagtgtggctttggcctcaccatc
ggctga

KEGG   Homo sapiens (human): 84134
Entry
84134             CDS       T01001                                 

Gene name
TOMM40L, TOMM40B
Definition
(RefSeq) translocase of outer mitochondrial membrane 40 like
  KO
K11518  mitochondrial import receptor subunit TOM40
Organism
hsa  Homo sapiens (human)
Pathway
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    84134 (TOMM40L)
   05022 Pathways of neurodegeneration - multiple diseases
    84134 (TOMM40L)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    84134 (TOMM40L)
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    84134 (TOMM40L)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial protein import machinery
  Outer membrane
   Transporter outer membrane (TOM) complex
    84134 (TOMM40L)
Transporters [BR:hsa02000]
 Other transporters
  Primary active transporters [TC:3]
   84134 (TOMM40L)
SSDB
Motif
Pfam: Porin_3 CBP_BcsS
Other DBs
NCBI-GeneID: 84134
NCBI-ProteinID: NP_115550
HGNC: 25756
Ensembl: ENSG00000158882
Vega: OTTHUMG00000034345
Pharos: Q969M1(Tdark)
UniProt: Q969M1
Position
1q23.3
AA seq 308 aa
MGNTLGLAPMGTLPRRSPRREEPLPNPGSFDELHRLCKDVFPAQMEGVKLVVNKVLSSHF
QVAHTIHMSALGLPGYHLHAAYAGDWQLSPTEVFPTVVGDMDSSGSLNAQVLLLLAERLR
AKAVFQTQQAKFLTWQFDGEYRGDDYTATLTLGNPDLIGESVIMVAHFLQSLTHRLVLGG
ELVYHRRPGEEGAILTLAGKYSAVHWVATLNVGSGGAHASYYHRANEQVQVGVEFEANTR
LQDTTFSFGYHLTLPQANMVFRGLVDSNWCVGAVLEKKMPPLPVTLALGAFLNHWRNRFH
CGFSITVG
NT seq 927 nt   +upstreamnt  +downstreamnt
atggggaacacattgggcctggcaccaatggggactttgccccgccggagcccccgccga
gaggaacccctgcccaaccctgggagcttcgatgagctgcaccgtctatgcaaagatgta
ttcccagcacagatggagggagtgaagctcgttgtcaacaaggttctgagcagccatttc
caggtggcgcacactatacacatgagtgccctgggcttgccgggatatcacctccatgcg
gcctatgcaggggattggcagctcagtcccactgaggtgttccccactgtggtaggggat
atggacagcagtggcagcctgaacgcccaggtcttgctcctcttggcagagcggctccga
gctaaggctgtcttccagacgcagcaggccaagttcctgacatggcagtttgatggcgag
tatcggggagatgactacacagccactctgaccctaggaaatcctgacctgattggggag
tcggtgatcatggttgctcacttcctgcagagcctcactcatcggctggtgctgggagga
gagctagtttatcaccggcggccaggcgaagagggggccatcttgacactggctgggaag
tactcggctgtacactgggtagctacattgaatgtgggatcaggcggggcccatgcaagt
tactaccacagggcaaatgaacaggttcaggttggagtggagtttgaggcaaacacaagg
ctacaagacacaacattctcctttggttaccacctgactctgccccaggccaacatggta
tttagaggcttggtggatagtaactggtgtgtaggtgctgtgctggagaagaagatgccc
cctctgcctgtcaccctagcccttggagccttcctcaatcactggcgcaacagattccat
tgtggcttcagcatcactgtgggctga

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