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

Gene ID: 150209, updated on 26-Oct-2022

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
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Genomic context

See AIFM3 in Genome Data Viewer
Location:
22q11.21
Exon count:
22
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (20965172..20981358)
110 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_000022.11Genomic Context describing neighboring genes Neighboring gene CRK like proto-oncogene, adaptor protein Neighboring gene small nucleolar RNA U3 Neighboring gene long intergenic non-protein coding RNA 1637 Neighboring gene Sharpr-MPRA regulatory region 818 Neighboring gene leucine zipper like transcription regulator 1 Neighboring gene THAP7 antisense RNA 1 Neighboring gene THAP domain containing 7

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Potential readthrough

Included gene: LZTR1

Homology

Clone Names

  • FLJ30473, FLJ45137

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

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)

  1. NM_001018060.3NP_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/Swiss-Prot
    Q96NN9
    Related
    ENSP00000382116.2, ENST00000399163.6
    Conserved Domains (3) summary
    cd03478
    Location:70164
    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:195493
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
    pfam14759
    Location:512562
    Reductase_C; Reductase C-terminal
  2. NM_001146288.2NP_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/Swiss-Prot
    Q96NN9
    UniProtKB/TrEMBL
    B7Z376
    Related
    ENSP00000385800.1, ENST00000405089.5
    Conserved Domains (5) summary
    cd03478
    Location:76170
    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:340420
    Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase
    pfam07992
    Location:201499
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
    pfam14759
    Location:518568
    Reductase_C; Reductase C-terminal
    cl21454
    Location:202291
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  3. NM_001386814.1NP_001373743.1  apoptosis-inducing factor 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC002470, KF457368
    Consensus CDS
    CCDS13786.1
    UniProtKB/Swiss-Prot
    Q8N5E0
    Related
    ENSP00000390798.2, ENST00000440238.4
    Conserved Domains (3) summary
    cd03478
    Location:70164
    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:195493
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
    pfam14759
    Location:512562
    Reductase_C; Reductase C-terminal
  4. NM_144704.3NP_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
    Q8N5E0, Q96NN9
    Related
    ENSP00000382120.2, ENST00000399167.6
    Conserved Domains (3) summary
    cd03478
    Location:70164
    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:195493
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
    pfam14759
    Location:512562
    Reductase_C; Reductase C-terminal

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    20965172..20981358
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    21373992..21390168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)