Official symbol | AIFM1 |
Gene id | 9131 |
Organism | Homo sapiens |
Official full symbol | apoptosis inducing factor mitochondria associated 1 |
Gene type | protein-coding |
Also known as | AIF, AUNX1, CMT2D, CMTX4, COWCK, COXPD6, DFNX5, NADMR, NAMSD, PDCD8, SEMDHL |
Summary | This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. |
Genomic regions | Chromosome X |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
AIFM1-229 | ENST00000676229.1 | 4157 | 609aa | Protein coding | CCDS14619 | - | - | GENCODE basic, APPRIS P1, |
AIFM1-209 | ENST00000535724.6 | 2248 | 324aa | Protein coding | CCDS48167 | O95831-4 | - | TSL:1, GENCODE basic, |
AIFM1-201 | ENST00000287295.8 | 2222 | 613aa | Protein coding | CCDS14618 | O95831-1 | NM_004208.4 | TSL:1, GENCODE basic, MANE Select v0.92, |
AIFM1-205 | ENST00000460436.6 | 1925 | 274aa | Protein coding | CCDS48166 | E9PMA0 | - | TSL:1, GENCODE basic, |
AIFM1-210 | ENST00000674546.1 | 2233 | 589aa | Protein coding | - | - | - | GENCODE basic, |
AIFM1-202 | ENST00000319908.8 | 2192 | 611aa | Protein coding | - | O95831-3 | - | TSL:1, GENCODE basic, |
AIFM1-221 | ENST00000675092.1 | 2154 | 622aa | Protein coding | - | - | - | GENCODE basic, |
AIFM1-224 | ENST00000675427.1 | 2123 | 612aa | Protein coding | - | - | - | GENCODE basic, |
AIFM1-226 | ENST00000675857.1 | 2113 | 611aa | Protein coding | - | - | - | GENCODE basic, |
AIFM1-223 | ENST00000675240.1 | 2107 | 565aa | Protein coding | - | - | - | GENCODE basic, |
AIFM1-230 | ENST00000676328.1 | 2086 | 612aa | Protein coding | - | - | - | GENCODE basic, |
AIFM1-231 | ENST00000676436.1 | 2048 | 609aa | Protein coding | - | - | - | GENCODE basic, |
AIFM1-203 | ENST00000346424.6 | 1200 | 326aa | Protein coding | - | O95831-2 | - | TSL:2, GENCODE basic, |
AIFM1-214 | ENST00000674601.1 | 711 | 229aa | Protein coding | - | - | - | CDS 5' incomplete, |
AIFM1-220 | ENST00000675050.1 | 3083 | 609aa | Nonsense mediated decay | CCDS14619 | - | - | - |
AIFM1-216 | ENST00000674957.1 | 2434 | 293aa | Nonsense mediated decay | - | - | - | CDS 5' incomplete, |
AIFM1-206 | ENST00000527892.5 | 2105 | 43aa | Nonsense mediated decay | - | E9PRR0 | - | TSL:2, |
AIFM1-211 | ENST00000674555.1 | 2077 | 98aa | Nonsense mediated decay | - | - | - | - |
AIFM1-204 | ENST00000416073.7 | 2061 | 441aa | Nonsense mediated decay | - | O95831-4 | - | TSL:1, |
AIFM1-219 | ENST00000675037.1 | 1962 | 460aa | Nonsense mediated decay | - | - | - | - |
AIFM1-215 | ENST00000674722.1 | 1905 | 248aa | Nonsense mediated decay | - | - | - | - |
AIFM1-217 | ENST00000674997.1 | 1883 | 43aa | Nonsense mediated decay | - | - | - | - |
AIFM1-225 | ENST00000675774.1 | 1454 | 43aa | Nonsense mediated decay | - | - | - | - |
AIFM1-228 | ENST00000676144.1 | 917 | 61aa | Nonsense mediated decay | - | - | - | CDS 5' incomplete, |
AIFM1-207 | ENST00000529877.1 | 723 | 89aa | Nonsense mediated decay | - | E9PMQ8 | - | TSL:3, |
AIFM1-227 | ENST00000676048.1 | 5137 | No protein | Retained intron | - | - | - | - |
AIFM1-212 | ENST00000674582.1 | 2200 | No protein | Retained intron | - | - | - | - |
AIFM1-222 | ENST00000675111.1 | 1920 | No protein | Retained intron | - | - | - | - |
AIFM1-218 | ENST00000675015.1 | 1689 | No protein | Retained intron | - | - | - | - |
AIFM1-213 | ENST00000674591.1 | 1485 | No protein | Retained intron | - | - | - | - |
AIFM1-208 | ENST00000533719.2 | 1465 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | AIFM1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene AIFM1 had been KO in hek293t cell line. |
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