KEGG   Homo sapiens (human): 9131
Entry
9131              CDS       T01001                                 
Symbol
AIFM1, AIF, AUNX1, CMT2D, CMTX4, COWCK, COXPD6, DFNX5, NADMR, NAMSD, PDCD8, SEMDHL
Name
(RefSeq) apoptosis inducing factor mitochondria associated 1
  KO
K04727  apoptosis-inducing factor 1 [EC:1.-.-.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04210  Apoptosis
hsa04217  Necroptosis
Disease
H00891  Combined oxidative phosphorylation deficiency
H01209  Deafness, X-linked
H02187  Spondyloepimetaphyseal dysplasia
H02344  Cowchock syndrome
SSDB
Motif
Pfam: AIF_C Pyr_redox_2 Pyr_redox Pyr_redox_3 HI0933_like Amino_oxidase AIF-MLS Mito_fiss_Elm1 FAD_oxidored PYNP_C
Other DBs
NCBI-GeneID: 9131
NCBI-ProteinID: NP_004199
OMIM: 300169
HGNC: 8768
Ensembl: ENSG00000156709
UniProt: O95831
Structure
Position
X:complement(130129362..130165841)
AA seq 613 aa
MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGAS
GGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEG
EEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELW
FSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRD
NMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREV
KSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREG
VKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGG
FRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQS
MFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASE
ITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHED
LNEVAKLFNIHED
NT seq 1842 nt   +upstreamnt  +downstreamnt
atgttccggtgtggaggcctggcggcgggtgctttgaagcagaagctggtgcccttggtg
cggaccgtgtgcgtccgaagcccgaggcagaggaaccggctcccaggcaacttgttccag
cgatggcatgttcctctagaactccagatgacaagacaaatggctagctctggtgcatca
gggggcaaaatcgataattctgtgttagtccttattgtgggcttatcaacagtaggagct
ggtgcctatgcctacaagactatgaaagaggatgaaaaaagatacaatgaaagaatttca
gggttagggctgacaccagaacagaaacagaaaaaggccgcgttatctgcttcagaagga
gaggaagttcctcaagacaaggcgccaagtcatgttcctttcctgctaattggtggaggc
acagctgcttttgctgcagccagatccatccgggctcgggatcctggggccagggtactg
attgtatctgaagatcctgagctgccgtacatgcgacctcctctttcaaaagaactgtgg
ttttcagatgacccaaatgtcacaaagacactgcgattcaaacagtggaatggaaaagag
agaagcatatatttccagccaccttctttctatgtctctgctcaggacctgcctcatatt
gagaatggtggtgtggctgtcctcactgggaagaaggtagtacagctggatgtgagagac
aacatggtgaaacttaatgatggctctcaaataacctatgaaaagtgcttgattgcaaca
ggaggtactccaagaagtctgtctgccattgatagggctggagcagaggtgaagagtaga
acaacgcttttcagaaagattggagactttagaagcttggagaagatttcacgggaagtc
aaatcaattacgattatcggtgggggcttccttggtagcgaactggcctgtgctcttggc
agaaaggctcgagccttgggcacagaagtgattcaactcttccccgagaaaggaaatatg
ggaaagatcctccccgaatacctcagcaactggaccatggaaaaagtcagacgagagggg
gttaaggtgatgcccaatgctattgtgcaatccgttggagtcagcagtggcaagttactt
atcaagctgaaagacggcaggaaggtagaaactgaccacatagtggcagctgtgggcctg
gagcccaatgttgagttggccaagactggtggcctggaaatagactcagattttggtggc
ttccgggtaaatgcagagctacaagcacgctctaacatctgggtggcaggagatgctgca
tgcttctacgatataaagttgggaaggaggcgggtagagcaccatgatcacgctgttgtg
agtggaagattggctggagaaaatatgactggagctgctaagccgtactggcatcagtca
atgttctggagtgatttgggccccgatgttggctatgaagctattggtcttgtggacagt
agtttgcccacagttggtgtttttgcaaaagcaactgcacaagacaaccccaaatctgcc
acagagcagtcaggaactggtatccgatcagagagtgagacagagtccgaggcctcagaa
attactattcctcccagcaccccggcagttccacaggctcccgtccagggggaggactac
ggcaaaggtgtcatcttctacctcagggacaaagtggtcgtggggattgtgctatggaac
atctttaaccgaatgccaatagcaaggaagatcattaaggacggtgagcagcatgaagat
ctcaatgaagtagccaaactattcaacattcatgaagactga

  All links  
Disease (5)   
   OMIM (5)   
Gene (16)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (7)   
   OC (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (44)   
   RefSeq(nuc) (6)   
   GenBank (19)   
   EMBL (19)   
3D Structure (20)   
   PDB (20)   
Protein domain (10)   
   Pfam (10)   
All databases (101)   

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