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    THSD1 thrombospondin type 1 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 55901, updated on 7-Sep-2023

    Summary

    Official Symbol
    THSD1provided by HGNC
    Official Full Name
    thrombospondin type 1 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:17754
    See related
    Ensembl:ENSG00000136114 MIM:616821; AllianceGenome:HGNC:17754
    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
    TMTSP; ANIB12; LMPHM13; UNQ3010
    Summary
    The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009]
    Expression
    Broad expression in lung (RPKM 7.5), placenta (RPKM 5.7) and 21 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See THSD1 in Genome Data Viewer
    Location:
    13q14.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (52377167..52406172, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (51591989..51620993, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (52951302..52980307, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:52908217-52908716 Neighboring gene long intergenic non-protein coding RNA 2333 Neighboring gene uncharacterized LOC105370207 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:52922389-52923588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:52951563-52952064 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:52952065-52952564 Neighboring gene RNY4 pseudogene 24 Neighboring gene vacuolar protein sorting 36 homolog Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:53024355-53024935 Neighboring gene cytoskeleton associated protein 2

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC74971

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in focal adhesion assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cell periphery IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in focal adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    thrombospondin type-1 domain-containing protein 1
    Names
    4833423O18Rik
    thrombospondin, type I, domain containing 1
    transmembrane molecule with thrombospondin module

    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.

    Genomic

    1. NG_047168.1 RefSeqGene

      Range
      5323..34328
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018676.4NP_061146.1  thrombospondin type-1 domain-containing protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_061146.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK096289, AL359513, BC063842
      Consensus CDS
      CCDS9432.1
      UniProtKB/Swiss-Prot
      A2A3J3, B2RCF5, Q6P3U1, Q6UXZ2, Q9NS62
      UniProtKB/TrEMBL
      A0A024R064, B3KTY7
      Related
      ENSP00000258613.4, ENST00000258613.5
      Conserved Domains (1) summary
      smart00209
      Location:343392
      TSP1; Thrombospondin type 1 repeats
    2. NM_199263.3NP_954872.1  thrombospondin type-1 domain-containing protein 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_954872.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing an in-frame coding exon compared to transcript variant 1, resulting in a shorter isoform (2) lacking an internal segment compared to isoform 1.
      Source sequence(s)
      AK096289, BC063842
      Consensus CDS
      CCDS9433.1
      UniProtKB/Swiss-Prot
      Q9NS62
      UniProtKB/TrEMBL
      B3KTY7
      Related
      ENSP00000340650.4, ENST00000349258.8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      52377167..52406172 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      51591989..51620993 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)