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    THBD thrombomodulin [ Homo sapiens (human) ]

    Gene ID: 7056, updated on 7-Apr-2024

    Summary

    Official Symbol
    THBDprovided by HGNC
    Official Full Name
    thrombomodulinprovided by HGNC
    Primary source
    HGNC:HGNC:11784
    See related
    Ensembl:ENSG00000178726 MIM:188040; AllianceGenome:HGNC:11784
    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
    TM; THRM; AHUS6; BDCA3; CD141; BDCA-3; THPH12
    Summary
    The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
    Orthologs
    NEW
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    Genomic context

    See THBD in Genome Data Viewer
    Location:
    20p11.21
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (23045633..23049672, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23105114..23109153, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23026270..23030309, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929707 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:23016490-23017036 Neighboring gene somatostatin receptor 4 Neighboring gene Sharpr-MPRA regulatory region 8459 Neighboring gene uncharacterized LOC124904964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17627 Neighboring gene CD93 molecule

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of thrombomodulin (THBD) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables transmembrane signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in blood coagulation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in blood coagulation, common pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of blood coagulation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of blood coagulation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of fibrinolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of platelet activation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in proteolysis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in response to X-ray IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in zymogen activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in apicolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of serine-type endopeptidase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in vacuolar membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    thrombomodulin
    Names
    CD141 antigen
    fetomodulin

    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_012027.1 RefSeqGene

      Range
      5001..9032
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_168

    mRNA and Protein(s)

    1. NM_000361.3NP_000352.1  thrombomodulin precursor

      See identical proteins and their annotated locations for NP_000352.1

      Status: REVIEWED

      Source sequence(s)
      AI285986, AL049651, BG771668, M16552
      Consensus CDS
      CCDS13148.1
      UniProtKB/Swiss-Prot
      P07204, Q8IV29, Q9UC32
      UniProtKB/TrEMBL
      B3KVV1
      Related
      ENSP00000366307.2, ENST00000377103.3
      Conserved Domains (4) summary
      cd03600
      Location:30171
      CLECT_thrombomodulin_like; C-type lectin-like domain (CTLD) of the type found in human thrombomodulin(TM), Endosialin, C14orf27, and C1qR
      smart00179
      Location:441468
      EGF_CA; Calcium-binding EGF-like domain
      pfam09064
      Location:406439
      Tme5_EGF_like; Thrombomodulin like fifth domain, EGF-like
      pfam14670
      Location:245280
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      23045633..23049672 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      23105114..23109153 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)