| Entry |
|
| Gene name |
AIFM1, AIF, CMTX4, COWCK, COXPD6, PDCD8
|
| Definition |
apoptosis-inducing factor, mitochondrion-associated, 1
|
| Orthology |
| programmed cell death 8 (apoptosis-inducing factor) [EC:1.-.-.-] |
|
| Organism |
|
| Pathway |
|
| Disease |
| Combined oxidative phosphorylation deficiency (COXPD) |
|
| Class |
Cellular Processes; Cell growth and death; Apoptosis [PATH: hsa04210]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Structure |
PDB: |
| Position |
Xq26.1
|
| AA seq |
261 aa  
MEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGL
EIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGA
AKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSES
ETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKII
KDGEQHEDLNEVAKLFNIHED |
| NT seq |
786 nt  +upstreamnt +downstreamnt
atggaaaaagtcagacgagagggggttaaggtgatgcccaatgctattgtgcaatccgtt
ggagtcagcagtggcaagttacttatcaagctgaaagacggcaggaaggtagaaactgac
cacatagtggcagctgtgggcctggagcccaatgttgagttggccaagactggtggcctg
gaaatagactcagattttggtggcttccgggtaaatgcagagctacaagcacgctctaac
atctgggtggcaggagatgctgcatgcttctacgatataaagttgggaaggaggcgggta
gagcaccatgatcacgctgttgtgagtggaagattggctggagaaaatatgactggagct
gctaagccgtactggcatcagtcaatgttctggagtgatttgggccccgatgttggctat
gaagctattggtcttgtggacagtagtttgcccacagttggtgtttttgcaaaagcaact
gcacaagacaaccccaaatctgccacagagcagtcaggaactggtatccgatcagagagt
gagacagagtccgaggcctcagaaattactattcctcccagcaccccggcagttccacag
gctcccgtccagggggaggactacggcaaaggtgtcatcttctacctcagggacaaagtg
gtcgtggggattgtgctatggaacatctttaaccgaatgccaatagcaaggaagatcatt
aaggacggtgagcagcatgaagatctcaatgaagtagccaaactattcaacattcatgaa
gactga |