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

Gene ID: 199, updated on 23-Dec-2018

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
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

Genomic context

See AIF1 in Genome Data Viewer
Location:
6p21.33
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (31615209..31617025)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31582969..31584798)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene leukocyte specific transcript 1 Neighboring gene natural cytotoxicity triggering receptor 3 Neighboring gene ubiquinol-cytochrome c reductase hinge protein pseudogene 1 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: 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

  • Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
    Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
Rac protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
actin filament bundle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament bundle assembly IDA
Inferred from Direct Assay
more info
PubMed 
actin filament polymerization IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to extracellular stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to hydroperoxide IEA
Inferred from Electronic Annotation
more info
 
cellular response to interferon-gamma IEP
Inferred from Expression Pattern
more info
PubMed 
cellular response to interferon-gamma ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to morphine IEA
Inferred from Electronic Annotation
more info
 
cerebellum development IEA
Inferred from Electronic Annotation
more info
 
inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
inflammatory response NAS
Non-traceable Author Statement
more info
PubMed 
microglial cell activation NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
negative regulation of smooth muscle cell chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of smooth muscle cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
phagocytosis, engulfment ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of T cell migration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of T cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of monocyte chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of muscle hyperplasia IEA
Inferred from Electronic Annotation
more info
 
positive regulation of nitric oxide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of smooth muscle cell chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of smooth muscle cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
response to axon injury IEA
Inferred from Electronic Annotation
more info
 
response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
ruffle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ruffle assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
ruffle assembly NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with actin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with actin filament IDA
Inferred from Direct Assay
more info
PubMed 
cell projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
phagocytic cup ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with ruffle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with ruffle membrane IDA
Inferred from Direct Assay
more info
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)

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_001318970.1NP_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/Swiss-Prot
    P55008
    UniProtKB/TrEMBL
    I3WTX1
    Conserved Domains (1) summary
    cl25352
    Location:372
    EFh_PEF; The penta-EF hand (PEF) family
  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
    P55008
    UniProtKB/TrEMBL
    Q4V347
    Related
    ENSP00000365227.3, ENST00000376059.7
    Conserved Domains (1) summary
    cl25352
    Location:46113
    EFh_PEF; The penta-EF hand (PEF) family
  3. NM_032955.2NP_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, AV716806, CD249922
    Consensus CDS
    CCDS34398.1
    UniProtKB/Swiss-Prot
    P55008
    UniProtKB/TrEMBL
    I3WTX1
    Related
    ENSP00000365217.4, ENST00000376049.4
    Conserved Domains (1) summary
    cl25352
    Location:372
    EFh_PEF; The penta-EF hand (PEF) family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    31615209..31617025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010332.1XP_016865821.1  allograft inflammatory factor 1 isoform X2

    UniProtKB/Swiss-Prot
    P55008
  2. XM_005248870.4XP_005248927.1  allograft inflammatory factor 1 isoform X1

    See identical proteins and their annotated locations for XP_005248927.1

Reference GRCh38.p12 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p12 ALT_REF_LOCI_2

    Range
    3092498..3094314
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p12 ALT_REF_LOCI_3

    Range
    2862976..2864792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p12 ALT_REF_LOCI_5

    Range
    2957095..2958911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p12 ALT_REF_LOCI_6

    Range
    2871031..2872847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p12 ALT_REF_LOCI_7

    Range
    2914495..2916311
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_004847.3: Suppressed sequence

    Description
    NM_004847.3: This RefSeq was removed because currently there is not sufficient data to support this transcript or this protein. This transcript retains introns relative to other transcripts so may be incompletely processed.
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