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THBD thrombomodulin [ Homo sapiens (human) ]

Gene ID: 7056, updated on 19-Sep-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (23045633..23049672, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23105114..23109153, complement)
RS_2024_09 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 IDA
Inferred from Direct Assay
more info
PubMed 
enables transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
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
 
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
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)

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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_2024_08

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)