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

    Gene ID: 199, updated on 22-Apr-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    6p21.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31615234..31617015)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31468284..31470065)
    105.20220307 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: 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?

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Rac protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in actin crosslink formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in actin filament bundle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in actin filament bundle assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to type II interferon IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to type II interferon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inflammatory response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in microglial cell activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of smooth muscle cell chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of smooth muscle cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in parallel actin filament bundle assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phagocytosis, engulfment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of T cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of chemokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of fibroblast growth factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-6 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of monocyte chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of mononuclear cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of smooth muscle cell chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of smooth muscle cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of gene expression HDA PubMed 
    involved_in ruffle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ruffle assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in 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
     
    colocalizes_with actin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in actin filament ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in glial cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in phagocytic cup ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in ruffle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with ruffle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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)

    NEW Try the new Transcript table

    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_2023_10

    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

    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.