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

Gene ID: 55901, updated on 16-Sep-2019

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
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
109.20190905 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (52377167..52406172, 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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
    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
    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: 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.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

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