KEGG   Homo sapiens (human): 10452Help
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 (ALS)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative diseases
   05014 Amyotrophic lateral sclerosis (ALS)
    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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Porin_3
Motif
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 AA seqDB search
MGNVLAASSPPAGPPPPPAPALVGLPPPPPSPPGFTLPPLGGSLGAGTSTSRSSERTPGA
ATASASGAAEDGACGCLPNPGTFEECHRKCKELFPIQMEGVKLTVNKGLSNHFQVNHTVA
LSTIGESNYHFGVTYVGTKQLSPTEAFPVLVGDMDNSGSLNAQVIHQLGPGLRSKMAIQT
QQSKFVNWQVDGEYRGSDFTAAVTLGNPDVLVGSGILVAHYLQSITPCLALGGELVYHRR
PGEEGTVMSLAGKYTLNNWLATVTLGQAGMHATYYHKASDQLQVGVEFEASTRMQDTSVS
FGYQLDLPKANLLFKGSVDSNWIVGATLEKKLPPLPLTLALGAFLNHRKNKFQCGFGLTI
G
NT seq 1086 nt NT seq  +upstreamnt  +downstreamnt
atggggaacgtgttggctgccagctcgccgcccgcagggccgccaccgccgcctgcgccg
gccctcgtggggctgccgccacctccgccctcgccgccgggcttcacgctgccgccgctg
ggaggcagcctgggcgccggcaccagtacgagtcgaagttcggaacggacccccggggct
gcaaccgccagcgcctcaggggccgccgaggatggggcctgcggctgcctgcccaacccg
ggcacattcgaggagtgccaccggaagtgcaaggagctgtttcccattcagatggagggt
gtcaagctcacagtcaacaaagggttgagtaaccattttcaggtcaaccacacagtagcc
ctcagcacaatcggggagtccaactaccacttcggggtcacatatgtggggacaaagcag
ctgagtcccacagaggcgttccctgtactggtgggtgacatggacaacagtggcagtctc
aacgctcaggtcattcaccagctgggccccggtctcaggtccaagatggccatccagacc
cagcagtcgaagtttgtgaactggcaggtggacggggagtatcggggctctgacttcaca
gcagccgtcaccctggggaacccagacgtcctcgtgggttcaggaatcctcgtagcccac
tacctccagagcatcacgccttgcctggccctgggtggagagctggtctaccaccggcgg
cctggagaggagggcactgtcatgtctctagctgggaaatacacattgaacaactggttg
gcaacggtaacgttgggccaggcgggcatgcacgcaacatactaccacaaagccagtgac
cagctgcaggtgggtgtggagtttgaggccagcacaaggatgcaggacaccagcgtctcc
ttcgggtaccagctggacctgcccaaggccaacctcctcttcaaaggctctgtggatagc
aactggatcgtgggtgccacgctggagaagaagctcccacccctgcccctgacactggcc
cttggggccttcctgaatcaccgcaagaacaagtttcagtgtggctttggcctcaccatc
ggctga

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