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    ITFG1 integrin alpha FG-GAP repeat containing 1 [ Homo sapiens (human) ]

    Gene ID: 81533, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ITFG1provided by HGNC
    Official Full Name
    integrin alpha FG-GAP repeat containing 1provided by HGNC
    Primary source
    HGNC:HGNC:30697
    See related
    Ensembl:ENSG00000129636 MIM:611803; AllianceGenome:HGNC:30697
    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
    TIP; CDA08; LINKIN; LNKN-1; 2310047C21Rik
    Summary
    Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 35.9), adrenal (RPKM 25.7) and 25 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    16q12.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (47154391..47461246, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (52951220..53258064, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (47188302..47495157, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene neuropilin and tolloid like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7450 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:47200827-47201756 Neighboring gene ITFG1 antisense RNA 1 Neighboring gene ribosomal protein L23a pseudogene 72 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:47213953-47214504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:47214505-47215056 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:47215057-47215608 Neighboring gene MPRA-validated peak2577 silencer Neighboring gene proteasome 20S subunit beta 5 pseudogene Neighboring gene uncharacterized LOC101927080 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:47400037-47400780 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:47420489-47420989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:47458564-47459064 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7451 Neighboring gene RNA, 5S ribosomal pseudogene 424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:47526014-47526536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10786 Neighboring gene Sharpr-MPRA regulatory region 10524 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:47533988-47534155 Neighboring gene phosphorylase kinase regulatory subunit beta Neighboring gene RNA, 5S ribosomal pseudogene 425 Neighboring gene Rho GTPase activating protein 20 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. RUVBL1-ITFG1 interaction is required for collective invasion in breast cancer. Fan W, et al. Biochim Biophys Acta Gen Subj, 2017 Jul. PMID 28341484
    2. TIP, a T-cell factor identified using high-throughput screening increases survival in a graft-versus-host disease model. Fiscella M, et al. Nat Biotechnol, 2003 Mar. PMID 12598909
    3. Identification of a PP2A-interacting protein that functions as a negative regulator of phosphatase activity in the ATM/ATR signaling pathway. McConnell JL, et al. Oncogene, 2007 Sep 6. PMID 17384681
    4. TGFβ attenuates cartilage extracellular matrix degradation via enhancing FBXO6-mediated MMP14 ubiquitination. Wang G, et al. Ann Rheum Dis, 2020 Aug. PMID 32409323, Free PMC Article
    5. LINKIN, a new transmembrane protein necessary for cell adhesion. Kato M, et al. Elife, 2014 Dec 1. PMID 25437307, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The interaction between RUVBL1 and ITFG1 is required for breast cancer cell collective invasion and progression.
      Title: RUVBL1-ITFG1 interaction is required for collective invasion in breast cancer.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Alterations in the cellular levels of TIP influence the phosphorylation state of a specific protein substrate of ataxia-telangiectasia mutated (ATM)/ATM- and Rad3-related (ATR) kinases.
      Title: Identification of a PP2A-interacting protein that functions as a negative regulator of phosphatase activity in the ATM/ATR signaling pathway.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    T-cell immunomodulatory protein
    Names
    integrin-alpha FG-GAP repeat-containing protein 1

    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_001305002.2 → NP_001291931.1  T-cell immunomodulatory protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in its 5' UTR, lacks part of the 5' coding region, and uses an alternate splice site in the 3' coding region, compared to variant 1. These differences result in the use of a downstream in-frame start codon and a frameshift in the 3' coding region. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK301908, BC024162, BM680211, DA285856, EL948664
      Consensus CDS
      CCDS76862.1
      UniProtKB/TrEMBL
      B4DXC2, F5GXC5
      Related
      ENSP00000441062.2, ENST00000544001.6
      Conserved Domains (1) summary
      pfam13517
      Location:153 → 236
      VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella

    2. NM_030790.5 → NP_110417.2  T-cell immunomodulatory protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_110417.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC024162, BM680211, EL948664
      Consensus CDS
      CCDS10728.1
      UniProtKB/Swiss-Prot
      Q8TB96, Q96SR4, Q9BRE2, Q9H2V9
      Related
      ENSP00000319918.6, ENST00000320640.11
      Conserved Domains (1) summary
      pfam13517
      Location:55 → 118
      VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      47154391..47461246 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      52951220..53258064 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TB96.1 GenPept UniProtKB/Swiss-Prot:Q8TB96

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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