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    THSD7A thrombospondin type 1 domain containing 7A [ Homo sapiens (human) ]

    Gene ID: 221981, updated on 7-Dec-2018

    Summary

    Official Symbol
    THSD7Aprovided by HGNC
    Official Full Name
    thrombospondin type 1 domain containing 7Aprovided by HGNC
    Primary source
    HGNC:HGNC:22207
    See related
    Ensembl:ENSG00000005108 MIM:612249
    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
    Summary
    The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]
    Expression
    Broad expression in kidney (RPKM 4.1), placenta (RPKM 2.1) and 17 other tissues See more
    Orthologs

    Genomic context

    See THSD7A in Genome Data Viewer
    Location:
    7p21.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (11370435..11832198, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (11410062..11871824, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986697 Neighboring gene uncharacterized LOC105375153 Neighboring gene nucleophosmin 1 pseudogene 11 Neighboring gene uncharacterized LOC105375151 Neighboring gene thyroid hormone receptor associated protein 3 pseudogene Neighboring gene transmembrane protein 106B Neighboring gene von Willebrand factor D and EGF domains

    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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0960

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    actin cytoskeleton reorganization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    thrombospondin type-1 domain-containing protein 7A
    Names
    thrombospondin, type I, domain containing 7A

    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_027670.1 RefSeqGene

      Range
      5001..466763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015204.3NP_056019.1  thrombospondin type-1 domain-containing protein 7A precursor

      See identical proteins and their annotated locations for NP_056019.1

      Status: REVIEWED

      Source sequence(s)
      AA297188, AB023177, AC004160, AC004614, AK001884, AK092252, BC030083, BF111945
      Consensus CDS
      CCDS47543.1
      UniProtKB/Swiss-Prot
      Q9UPZ6
      Related
      ENSP00000406482.2, ENST00000423059.8
      Conserved Domains (2) summary
      smart00209
      Location:197247
      TSP1; Thrombospondin type 1 repeats
      cl15278
      Location:364412
      TSP_1; Thrombospondin type 1 domain

    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_000007.14 Reference GRCh38.p12 Primary Assembly

      Range
      11370435..11832198 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715662.1XP_006715725.1  thrombospondin type-1 domain-containing protein 7A isoform X4

      Conserved Domains (2) summary
      smart00209
      Location:197247
      TSP1; Thrombospondin type 1 repeats
      cl15278
      Location:364412
      TSP_1; Thrombospondin type 1 domain
    2. XM_006715660.1XP_006715723.1  thrombospondin type-1 domain-containing protein 7A isoform X3

      Conserved Domains (2) summary
      smart00209
      Location:197247
      TSP1; Thrombospondin type 1 repeats
      cl15278
      Location:364412
      TSP_1; Thrombospondin type 1 domain
    3. XM_006715659.1XP_006715722.1  thrombospondin type-1 domain-containing protein 7A isoform X1

      Conserved Domains (2) summary
      smart00209
      Location:197247
      TSP1; Thrombospondin type 1 repeats
      cl15278
      Location:364412
      TSP_1; Thrombospondin type 1 domain
    4. XM_011515194.1XP_011513496.1  thrombospondin type-1 domain-containing protein 7A isoform X2

      See identical proteins and their annotated locations for XP_011513496.1

      Conserved Domains (2) summary
      smart00209
      Location:128178
      TSP1; Thrombospondin type 1 repeats
      cl15278
      Location:295343
      TSP_1; Thrombospondin type 1 domain
    5. XM_011515193.3XP_011513495.1  thrombospondin type-1 domain-containing protein 7A isoform X2

      See identical proteins and their annotated locations for XP_011513495.1

      Conserved Domains (2) summary
      smart00209
      Location:128178
      TSP1; Thrombospondin type 1 repeats
      cl15278
      Location:295343
      TSP_1; Thrombospondin type 1 domain

    RNA

    1. XR_001744589.1 RNA Sequence

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