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AIF1 allograft inflammatory factor 1 [ Homo sapiens (human) ]

Gene ID: 199, updated on 4-Jan-2025

Summary

Official Symbol
AIF1provided by HGNC
Official Full Name
allograft inflammatory factor 1provided by HGNC
Primary source
HGNC:HGNC:352
See related
Ensembl:ENSG00000204472 MIM:601833; AllianceGenome:HGNC:352
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IBA1; IRT1; AIF-1; IRT-1
Summary
This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]
Expression
Broad expression in spleen (RPKM 100.3), appendix (RPKM 74.7) and 17 other tissues See more
Orthologs
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Genomic context

See AIF1 in Genome Data Viewer
Location:
6p21.33
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31615234..31617015)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31468284..31470065)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31583011..31584792)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31557557-31558057 Neighboring gene leukocyte specific transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31561069-31561989 Neighboring gene natural cytotoxicity triggering receptor 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31565006-31565506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31565507-31566007 Neighboring gene ubiquinol-cytochrome c reductase hinge protein pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31583276-31583776 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31583777-31584277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31591608-31592555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31592556-31593502 Neighboring gene proline rich coiled-coil 2A Neighboring gene small nucleolar RNA, H/ACA box 38 Neighboring gene microRNA 6832

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
EBI GWAS Catalog
Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.
EBI GWAS Catalog
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog
Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 and the viral protein Tat modulate the expression of allograft inflammatory factor 1 (AIF1) in immature dendritic cells and monocyte-derived macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding  
enables actin filament binding PubMed 
enables calcium ion binding  
enables calcium ion binding PubMed 
enables protein binding PubMed 
Items 1 - 25 of 32
Process Evidence Code Pubs
involved_in Rac protein signal transduction  
involved_in actin crosslink formation  
involved_in actin filament bundle assembly  
involved_in actin filament bundle assembly PubMed 
involved_in actin filament polymerization PubMed 
involved_in cellular response to oxidative stress PubMed 
involved_in cellular response to type II interferon PubMed 
involved_in cellular response to type II interferon  
involved_in inflammatory response  
involved_in inflammatory response PubMed 
involved_in microglial cell activation PubMed 
involved_in negative regulation of smooth muscle cell chemotaxis PubMed 
involved_in negative regulation of smooth muscle cell proliferation PubMed 
involved_in parallel actin filament bundle assembly  
involved_in phagocytosis, engulfment  
involved_in positive regulation of G1/S transition of mitotic cell cycle PubMed 
involved_in positive regulation of T cell migration PubMed 
involved_in positive regulation of T cell proliferation PubMed 
involved_in positive regulation of cell migration PubMed 
involved_in positive regulation of cell population proliferation PubMed 
involved_in positive regulation of chemokine production PubMed 
involved_in positive regulation of chemotaxis PubMed 
involved_in positive regulation of fibroblast growth factor production PubMed 
involved_in positive regulation of interleukin-6 production PubMed 
involved_in positive regulation of monocyte chemotaxis PubMed 
involved_in positive regulation of mononuclear cell migration PubMed 
involved_in positive regulation of smooth muscle cell chemotaxis PubMed 
involved_in positive regulation of smooth muscle cell proliferation PubMed 
involved_in regulation of gene expression PubMed 
involved_in ruffle assembly  
involved_in ruffle assembly  
involved_in ruffle assembly PubMed 
Items 1 - 25 of 32
Component Evidence Code Pubs
colocalizes_with actin filament  
colocalizes_with actin filament PubMed 
located_in actin filament  
located_in cytoplasm PubMed 
located_in cytoplasm  
located_in cytosol PubMed 
located_in glial cell projection  
located_in lamellipodium  
located_in nucleus PubMed 
located_in nucleus  
located_in perinuclear region of cytoplasm PubMed 
located_in phagocytic cup  
located_in ruffle  
colocalizes_with ruffle membrane  
colocalizes_with ruffle membrane PubMed 

General protein information

Preferred Names
allograft inflammatory factor 1
Names
interferon gamma responsive transcript
ionized calcium-binding adapter molecule 1
protein G1

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_001318970.2NP_001305899.1  allograft inflammatory factor 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' region and initiates translation at a downstream start codon compared to variant 3. The encoded isoform (1) has a shorter N-terminus than isoform 3. Variants 1 and 4 encode the same isoform (1).
    Source sequence(s)
    AV716806, AV735626, JQ782415
    Consensus CDS
    CCDS34398.1
    UniProtKB/TrEMBL
    I3WTX1
    Conserved Domains (1) summary
    PTZ00183
    Location:372
    PTZ00183; centrin; Provisional
  2. NM_001623.5NP_001614.3  allograft inflammatory factor 1 isoform 3

    See identical proteins and their annotated locations for NP_001614.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AV716806, AV735626, JQ782414
    Consensus CDS
    CCDS4706.1
    UniProtKB/Swiss-Prot
    A8K406, O43904, P55008, Q9UIV4, Q9UKS9
    UniProtKB/TrEMBL
    Q4V347, Q5STX8
    Related
    ENSP00000365227.3, ENST00000376059.8
    Conserved Domains (1) summary
    PTZ00184
    Location:46113
    PTZ00184; calmodulin; Provisional
  3. NM_032955.3NP_116573.1  allograft inflammatory factor 1 isoform 1

    See identical proteins and their annotated locations for NP_116573.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as G1) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 3. The encoded isoform (1) has a shorter N-terminus than isoform 3. Variants 1 and 4 encode the same isoform (1).
    Source sequence(s)
    AL662801, CD249922
    Consensus CDS
    CCDS34398.1
    UniProtKB/TrEMBL
    I3WTX1
    Related
    ENSP00000365217.4, ENST00000376049.4
    Conserved Domains (1) summary
    PTZ00183
    Location:372
    PTZ00183; centrin; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    31615234..31617015
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248870.5XP_005248927.1  allograft inflammatory factor 1 isoform X1

    See identical proteins and their annotated locations for XP_005248927.1

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    3092523..3094304
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329747.1XP_054185722.1  allograft inflammatory factor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    2863001..2864782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330239.1XP_054186214.1  allograft inflammatory factor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    2957120..2958901
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330782.1XP_054186757.1  allograft inflammatory factor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    2871056..2872837
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331018.1XP_054186993.1  allograft inflammatory factor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    2914520..2916301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331284.1XP_054187259.1  allograft inflammatory factor 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    31468284..31470065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354428.1XP_054210403.1  allograft inflammatory factor 1 isoform X1

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