AIFM3 - apoptosis inducing factor mitochondria associated 3 Gene

Also Known as AIFL

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 150209

About 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.

Summary

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 Products (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
Biological Process GO Annotation Evidence References Source
involved in execution phase of apoptosis IDA
IDA: Inferred from direct assay
15764604 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
15764604 GOA
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
15764604 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
15764604 GOA
NOT located in nucleus IDA
IDA: Inferred from direct assay
15764604 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AIFM3 Protein Structure

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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  • 500
  • 605 a.a.
Protein Preferred Names Protein Names

apoptosis-inducing factor 3

  • apoptosis-inducing factor like

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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