THSD1
Thrombospondin type-1 domain-containing protein 1
Also known as: THSD1_HUMAN, TMTSP
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NS62
- Gene
- THSD1
- Ensembl
- ENSG00000136114
- Chromosome
- 13
- Canonical length
- 852 aa
- Protein class
- Disease related genes, Predicted membrane proteins
- Subcellular location
- Cytosol
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
852 residues, UniProt reviewed canonical sequence.
>Q9NS62|THSD1
1 MKPMLKDFSN LLLVVLCDYV LGEAEYLLLR EPGHVALSND TVYVDFQYFD GANGTLRNVS
61 VLLLEANTNQ TVTTKYLLTN QSQGTLKFEC FYFKEAGDYW FTMTPEATDN STPFPWWEKS
121 AFLKVEWPVF HVDLNRSAKA AEGTFQVGLF TSQPLCPFPV DKPNIVVDVI FTNSLPEARR
181 NSRQPLEIRT SKRTELAQGQ WVEFGCAPLG PEAYVTVVLK LLGRDSVITS TGPIDLAQKF
241 GYKLVMVPEL TCESGVEVTV LPPPCTFVQG VVTVFKEAPR YPGKRTIHLA ENSLPLGERR
301 TIFNCTLFDM GKNKYCFDFG ISSRSHFSAK EECMLIQRNT ETWGLWQPWS QCSATCGDGV
361 RERRRVCLTS FPSSPVCPGM SLEASLCSLE ECAAFQPSSP SPLQPQGPVK SNNIVTVTGI
421 SLCLFIIIAT VLITLWRRFG RPAKCSTPAR HNSIHSPSFR KNSDEENICE LSEQRGSFSD
481 GGDGPTGSPG DTGIPLTYRR SGPVPPEDDA SGSESFQSNA QKIIPPLFSY RLAQQQLKEM
541 KKKGLTETTK VYHVSQSPLT DTAIDAAPSA PLDLESPEEA AANKFRIKSP FPEQPAVSAG
601 ERPPSRLDLN VTQASCAISP SQTLIRKSQA RHVGSRGGPS ERSHARNAHF RRTASFHEAR
661 QARPFRERSM STLTPRQAPA YSSRTRTCEQ AEDRFRPQSR GAHLFPEKLE HFQEASGTRG
721 PLNPLPKSYT LGQPLRKPDL GDHQAGLVAG IERTEPHRAR RGPSPSHKSV SRKQSSPISP
781 KDNYQRVSSL SPSQCRKDKC QSFPTHPEFA FYDNTSFGLT EAEQRMLDLP GYFGSNEEDE
841 TTSTLSVEKL VILocalizationUniProt · AlphaFold · HPA
Whether an antibody against THSD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.55
- Highest tissue expression
- 11 nTPM
Expression across tissuesHPA
Tissue
- lung: 11 nTPM
- placenta: 11 nTPM
- tongue: 9.9 nTPM
- adipose tissue: 9.6 nTPM
- heart muscle: 8.8 nTPM
- amygdala: 8.5 nTPM
Single-cell type
- lymphatic endothelial cells: 75 nCPM
- retinal ganglion cells: 46 nCPM
- vascular endothelial cells: 43 nCPM
- astrocytes: 42 nCPM
- epididymal basal cells: 40 nCPM
- fibro-adipogenic progenitors: 31 nCPM
Immune cell
- NK-cell: 0.3 nTPM
- eosinophil: 0.2 nTPM
- plasmacytoid DC: 0.2 nTPM
- gdT-cell: 0.1 nTPM
- MAIT T-cell: 0.1 nTPM
- memory B-cell: 0.1 nTPM
Brain region
- cerebral cortex: 11 nTPM
- hippocampal formation: 10 nTPM
- amygdala: 9.9 nTPM
- basal ganglia: 8.7 nTPM
- thalamus: 7 nTPM
- white matter: 6.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about THSD1.
Disease | AllUniProt
Conditions THSD1 is implicated in, by any mechanism.
- Lymphatic malformation 13 (LMPHM13) MIM:620244
- Aneurysm, intracranial berry, 12 (ANIB12) MIM:618734
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 144 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Lymphatic malformation 13
- Non-immune hydrops fetalis
- Aneurysm, intracranial berry, 12
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.88
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.5
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Thrombospondin type-1 (TSP1) repeat
- Thrombospondin type-1 repeat superfamily
- Thrombospondin type 1 domain
- Thrombospondin type-1 domain-containing protein 1
- THSD1, N-terminal domain
- THSD1, second Ig-like domain
- THSD1, third Ig-like domain
- THSD1 N-terminal domain
- THSD1 second Ig-like domain
- THSD1 third Ig-like domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of THSD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads THSD1 as an antibody target. Whether an autoantibody or antibody against THSD1 could matter depends on whether native THSD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
THSD1 is annotated at the cell surface, where native THSD1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label THSD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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