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

    Gene ID: 55901, updated on 29-Mar-2018

    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; Vega:OTTHUMG00000016963
    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; 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

    Genomic context

    See THSD1 in Genome Data Viewer
    Location:
    13q14.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (52377167..52406494, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (52934506..52980629, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2333 Neighboring gene uncharacterized LOC105370207 Neighboring gene RNY4 pseudogene 24 Neighboring gene vacuolar protein sorting 36 homolog 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystem (from REACTOME)
      Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystemHuman beta-1,3-glucosyltransferase like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resu...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
      Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
    • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
      Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • O-glycosylation of TSR domain-containing proteins, organism-specific biosystem (from REACTOME)
      O-glycosylation of TSR domain-containing proteins, organism-specific biosystemThe O-fucosylation of proteins containing thrombospondin type 1 repeat (TSR) domains is an important PTM, regulating many biological processes such as Notch signalling, inflammation, wound healing, a...
    • O-linked glycosylation, organism-specific biosystem (from REACTOME)
      O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...

    General gene information

    Markers

    Homology

    Clone Names

    • MGC74971

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    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)

    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
      5001..34328
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018676.3NP_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
      Q9NS62
      UniProtKB/TrEMBL
      A0A024R064, B3KTY7
      Related
      ENSP00000258613.4, OTTHUMP00000018448, ENST00000258613.4, OTTHUMT00000045058
      Conserved Domains (1) summary
      smart00209
      Location:343392
      TSP1; Thrombospondin type 1 repeats
    2. NM_199263.2NP_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, OTTHUMP00000178678, ENST00000349258.8, OTTHUMT00000276383

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      52377167..52406494 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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