AIFM3 apoptosis inducing factor mitochondria associated 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AIFM3provided by HGNC
Official Full Name: apoptosis inducing factor mitochondria associated 3provided by HGNC
Primary source: HGNC:HGNC:26398
See related: Ensembl:ENSG00000183773 MIM:617298; AllianceGenome:HGNC:26398
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AIFL
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]
Expression: Biased expression in colon (RPKM 10.4), brain (RPKM 8.4) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (20965172..20981358)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (21373992..21390168)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (21319460..21335647)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bioinformatic Prediction of Novel Signaling Pathways of Apoptosis-inducing Factor, Mitochondrion-associated 3 (AIFM3) and Their Roles in Metastasis of Cholangiocarcinoma Cells.
Title: Bioinformatic Prediction of Novel Signaling Pathways of Apoptosis-inducing Factor, Mitochondrion-associated 3 (AIFM3) and Their Roles in Metastasis of Cholangiocarcinoma Cells.
CRKL, AIFM3, AIF, BCL2, and UBASH3A during Human Kidney Development.
Title: CRKL, AIFM3, AIF, BCL2, and UBASH3A during Human Kidney Development.
Apoptosis-Inducing Factor, Mitochondrion-Associated 3 (AIFM3) Protein Level in the Sera as a Prognostic Marker of Cholangiocarcinoma Patients.
Title: Apoptosis-Inducing Factor, Mitochondrion-Associated 3 (AIFM3) Protein Level in the Sera as a Prognostic Marker of Cholangiocarcinoma Patients.
AIFM3 was significantly more expressed in breast cancer tissues than in normal tissues. There was a significant association of AIFM3 expression with tumor size, lymph node metastasis, molecular typing and TNM staging. Lymph node metastasis and TNM stage were independent factors of AIFM3 expression. High AIFM3 expression was related to a shorter OS and DFS.
Title: Clinical implications of a novel prognostic factor AIFM3 in breast cancer patients.
Upregulated expression of AIFM3 is associated with cholangiocarcinoma.
Title: High expression of apoptosis-inducing factor, mitochondrion-associated 3 (AIFM3) in human cholangiocarcinoma.
The expression of apoptosis-inducing factor was identified in pineal gland and thymus, but it did not change with age.
Title: [Expression of AIF and CGRP markers in pineal gland and thymus during aging].
AIFM3 is a direct target of miR-210 in human hepatoma cells.
Title: Downregulation of miR-210 expression inhibits proliferation, induces apoptosis and enhances radiosensitivity in hypoxic human hepatoma cells in vitro.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
H. pylori triggers apoptosis in AGS cells via interaction with death receptors in the plasma membrane, leading to the cleavage of procaspase-8, release of cytochrome c and AIF from mitochondria, and activation of subsequent downstream apoptotic events
Title: H. pylori-induced apoptosis in human gastric cancer cells mediated via the release of apoptosis-inducing factor from mitochondria.
AIF maintains the transformed state of colon cancer cells through its NADH oxidase activity, by mechanisms that involve complex I function.
Title: AIF suppresses chemical stress-induced apoptosis and maintains the transformed state of tumor cells.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2 iron, 2 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables flavin adenine dinucleotide binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on NAD(P)H	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in execution phase of apoptosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in execution phase of apoptosis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
NOT located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: apoptosis-inducing factor 3

Names: apoptosis-inducing factor like; apoptosis-inducing factor, mitochondrion-associated, 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001018060.3 → NP_001018070.1 apoptosis-inducing factor 3 isoform 2

See identical proteins and their annotated locations for NP_001018070.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.

Source sequence(s)

AC002470, KF457368

Consensus CDS

CCDS33605.1

UniProtKB/TrEMBL

C9K029

Related

ENSP00000382116.2, ENST00000399163.6

Conserved Domains (3) summary

cd03478
Location:70 → 164

Rieske_AIFL_N; AIFL (apoptosis-inducing factor like) family, N-terminal Rieske domain; members of this family show similarity to human AIFL, containing an N-terminal Rieske domain and a C-terminal pyridine nucleotide-disulfide oxidoreductase domain (Pyr_redox). The ...

pfam07992
Location:195 → 493

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

pfam14759
Location:512 → 562

Reductase_C; Reductase C-terminal
NM_001146288.2 → NP_001139760.1 apoptosis-inducing factor 3 isoform 3

See identical proteins and their annotated locations for NP_001139760.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AC002470, KF457368

Consensus CDS

CCDS54503.1

UniProtKB/TrEMBL

C9K029

Related

ENSP00000385800.1, ENST00000405089.5

Conserved Domains (5) summary

cd03478
Location:76 → 170

Rieske_AIFL_N; AIFL (apoptosis-inducing factor like) family, N-terminal Rieske domain; members of this family show similarity to human AIFL, containing an N-terminal Rieske domain and a C-terminal pyridine nucleotide-disulfide oxidoreductase domain (Pyr_redox). The ...

pfam00070
Location:340 → 420

Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase

pfam07992
Location:201 → 499

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

pfam14759
Location:518 → 568

Reductase_C; Reductase C-terminal

cl21454
Location:202 → 291

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_001386814.1 → NP_001373743.1 apoptosis-inducing factor 3 isoform 1

Status: VALIDATED

Source sequence(s)

AC002470, KF457368

Consensus CDS

CCDS13786.1

UniProtKB/Swiss-Prot

B7WP37, D3DX37, D3DX38, Q6ZT44, Q8N1V3, Q8N5E0, Q96NN9

UniProtKB/TrEMBL

C9K029

Related

ENSP00000390798.2, ENST00000440238.4

Conserved Domains (3) summary

cd03478
Location:70 → 164

Rieske_AIFL_N; AIFL (apoptosis-inducing factor like) family, N-terminal Rieske domain; members of this family show similarity to human AIFL, containing an N-terminal Rieske domain and a C-terminal pyridine nucleotide-disulfide oxidoreductase domain (Pyr_redox). The ...

pfam07992
Location:195 → 493

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

pfam14759
Location:512 → 562

Reductase_C; Reductase C-terminal
NM_144704.3 → NP_653305.1 apoptosis-inducing factor 3 isoform 1

See identical proteins and their annotated locations for NP_653305.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC002470, KF457368

Consensus CDS

CCDS13786.1

UniProtKB/Swiss-Prot

B7WP37, D3DX37, D3DX38, Q6ZT44, Q8N1V3, Q8N5E0, Q96NN9

UniProtKB/TrEMBL

C9K029

Related

ENSP00000382120.2, ENST00000399167.6

Conserved Domains (3) summary

cd03478
Location:70 → 164

Rieske_AIFL_N; AIFL (apoptosis-inducing factor like) family, N-terminal Rieske domain; members of this family show similarity to human AIFL, containing an N-terminal Rieske domain and a C-terminal pyridine nucleotide-disulfide oxidoreductase domain (Pyr_redox). The ...

pfam07992
Location:195 → 493

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

pfam14759
Location:512 → 562

Reductase_C; Reductase C-terminal

RNA

NR_027464.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) has an alternate 5' exon and lacks two internal exons, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC002470, KF457368