1. Gene
  2. AIFM3 - apoptosis inducing factor mitochondria associated 3 Gene

AIFM3 - apoptosis inducing factor mitochondria associated 3 Gene

中文名称:细胞凋亡诱导因子线粒体相关 3

种属: Homo sapiens

同用名: AIFL

基因 ID: 150209 | 基因类型: protein coding

关于 AIFM3

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:20,965,172-20,981,358 (from NCBI)

This gene has 19 transcripts (splice variants), 194 orthologues and 7 paralogues. Biased expression in colon (RPKM 10.4), brain (RPKM 8.4) and 7 other tissues.

功能概要

预测可启用多种功能,包括 2 铁、2 硫簇结合活性;黄素腺嘌呤二核苷酸结合活性;和金属离子结合活性。参与细胞凋亡的执行阶段。位于胞质溶胶中;内质网;和线粒体内膜。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable several functions, including 2 iron, 2 sulfur cluster binding activity; flavin adenine dinucleotide binding activity; and metal ion binding activity. Involved in execution phase of Apoptosis. Located in cytosol; endoplasmic reticulum; and mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]

AIFM3 基因产物(4)

mRNA Protein Name
NM_001018060.3 NP_001018070.1 apoptosis-inducing factor 3 isoform 2
NM_001146288.2 NP_001139760.1 apoptosis-inducing factor 3 isoform 3
NM_001386814.1 NP_001373743.1 apoptosis-inducing factor 3 isoform 1
NM_144704.3 NP_653305.1 apoptosis-inducing factor 3 isoform 1
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in execution phase of apoptosis IDA
IDA: 通过直接分析推断
15764604 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
15764604 GOA
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
15764604 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
15764604 GOA
NOT located in nucleus IDA
IDA: 通过直接分析推断
15764604 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

AIFM3 蛋白结构

Rieske

Rieske: Rieske [2Fe-2S] domain (70 - 159)

Pyr_redox_2

Pyr_redox_2: Pyridine nucleotide-disulphide oxidoreductase (196 - 471)

Pyr_redox

Pyr_redox: Pyridine nucleotide-disulphide oxidoreductase (334 - 413)

Reductase_C

Reductase_C: Reductase C-terminal (512 - 583)

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  • 605 a.a.
蛋白主名 其他名称

apoptosis-inducing factor 3

apoptosis-inducing factor like

关联疾病

疾病名称 别名
Heparin Cofactor Ii Deficiency

Thrombophilia Due To Heparin Cofactor Ii Deficiency

THPH10

Hcf Ii Deficiency

Hcf2 Deficiency

Thrombophilia 10 Due To Heparin Cofactor Ii Deficiency

Hcf 2 Deficiency

Thrombophilia Due To Heparin Cofactor 2 Deficiency

Thrombophilia, Due To Heparin Cofactor Ii Deficiency

Chromosome 6q24-Q25 Deletion Syndrome

Chromosome 6q25-Q25 Deletion Syndrome

6q25 Microdeletion Syndrome

Monosomy 6q25

Del(6)(Q25)

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus AIFM3 VGNC VGNC:25763
Mus musculus AIFM3 MGD MGI:1919418
Macaca mulatta AIFM3 VGNC VGNC:69709
Rattus norvegicus AIFM3 RGD RGD:1306028
Canis familiaris AIFM3 VGNC VGNC:37739
Felis catus AIFM3 VGNC VGNC:59701