KEGG   Homo sapiens (human): 9131
Entry
9131              CDS       T01001                                 

Gene name
AIFM1, AIF, AUNX1, CMT2D, CMTX4, COWCK, COXPD6, DFNX5, NADMR, NAMSD, PDCD8, SEMDHL
Definition
(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
H02344  Cowchock syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09143 Cell growth and death
   04210 Apoptosis
    9131 (AIFM1)
   04217 Necroptosis
    9131 (AIFM1)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.-  
   1.-.-  
    1.-.-.-  
     9131 (AIFM1)
SSDB
Motif
Pfam: AIF_C Pyr_redox_2 Pyr_redox Pyr_redox_3 AIF-MLS Amino_oxidase PYNP_C FAD_oxidored Mito_fiss_Elm1
Other DBs
NCBI-GeneID: 9131
NCBI-ProteinID: NP_004199
OMIM: 300169 300614 310490
HGNC: 8768
Ensembl: ENSG00000156709
Vega: OTTHUMG00000022392
Pharos: O95831(Tbio)
UniProt: O95831
LinkDB
Structure
PDB: 

Position
Xq26.1
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

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