THBS3 thrombospondin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: THBS3provided by HGNC
Official Full Name: thrombospondin 3provided by HGNC
Primary source: HGNC:HGNC:11787
See related: Ensembl:ENSG00000169231 MIM:188062; AllianceGenome:HGNC:11787
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: TSP3
Summary: The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants. [provided by RefSeq, Nov 2011]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Expression: Ubiquitous expression in endometrium (RPKM 9.2), gall bladder (RPKM 7.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q22

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (155195588..155209178, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (154334151..154347741, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (155165379..155177688, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hyperuricemia and coronary heart disease: The mediating role of blood pressure and thrombospondin 3.
Title: Hyperuricemia and coronary heart disease: The mediating role of blood pressure and thrombospondin 3.
mRNA Expression of thrombospondin 1, 2 and 3 from proximal to distal in human abdominal aortic aneurysm - preliminary report.
Title: mRNA Expression of thrombospondin 1, 2 and 3 from proximal to distal in human abdominal aortic aneurysm - preliminary report.
Pathological Significance and Prognostic Roles of Thrombospondin-3, 4 and 5 in Bladder Cancer.
Title: Pathological Significance and Prognostic Roles of Thrombospondin-3, 4 and 5 in Bladder Cancer.
Serum levels of the IgA isotype switch factor TGF-beta1 are elevated in patients with COVID-19.
Title: Serum levels of the IgA isotype switch factor TGF-β1 are elevated in patients with COVID-19.
Normal human adult corneal keratocytes have mRNA for this protein.
Title: Corneal stromal cells (keratocytes) express thrombospondins 2 and 3 in wound repair phenotype.
This is the first report of the THBS3 gene working as a stimulator of tumor progression.
Title: Effects of THBS3, SPARC and SPP1 expression on biological behavior and survival in patients with osteosarcoma.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with THBS3; predicted interaction to be relevant to viral egress at plasma membrane/extracellular matrix	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-12606 (e-PCR)
- UniSTS:8800

RH69319 (e-PCR)
- UniSTS:49062

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	NAS Non-traceable Author Statement more info	PubMed
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables heparin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in bone trabecula formation	IEA Inferred from Electronic Annotation more info
involved_in cell-matrix adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in growth plate cartilage development	IEA Inferred from Electronic Annotation more info
involved_in ossification involved in bone maturation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: thrombospondin-3

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

NG_047083.1 RefSeqGene

Range

6284..18593

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001252607.2 → NP_001239536.1 thrombospondin-3 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AC234582, AK314337, BC018786

Consensus CDS

CCDS72937.1

UniProtKB/TrEMBL

F5H4Z8, Q2HIZ0

Related

ENSP00000444792.2, ENST00000541576.5

Conserved Domains (9) summary

smart00210
Location:23 → 193

TSPN; Thrombospondin N-terminal -like domains

cd00054
Location:307 → 342

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

sd00001
Location:519 → 541

TSP3; TSP3 repeat_short [structural motif]

sd00002
Location:542 → 577

TSP3; TSP3 repeat_long [structural motif]

sd00003
Location:449 → 482

TSP3_1C; TSP3 repeat_1C [structural motif]

pfam02412
Location:543 → 577

TSP_3; Thrombospondin type 3 repeat

pfam05735
Location:732 → 929

TSP_C; Thrombospondin C-terminal region

pfam12947
Location:369 → 398

EGF_3; EGF domain

cd16079
Location:218 → 260

TSP-3cc; Coiled coil region of thrombospondin-3 (TSP-3)
NM_001252608.2 → NP_001239537.1 thrombospondin-3 isoform 3 precursor

See identical proteins and their annotated locations for NP_001239537.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.

Source sequence(s)

AK298592, BC018786

Consensus CDS

CCDS58034.1

UniProtKB/TrEMBL

Q2HIZ0

Related

ENSP00000392207.2, ENST00000457183.6

Conserved Domains (9) summary

cd00054
Location:196 → 231

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

sd00001
Location:408 → 430

TSP3; TSP3 repeat_short [structural motif]

sd00002
Location:431 → 466

TSP3; TSP3 repeat_long [structural motif]

sd00003
Location:338 → 371

TSP3_1C; TSP3 repeat_1C [structural motif]

pfam02412
Location:432 → 466

TSP_3; Thrombospondin type 3 repeat

pfam05735
Location:621 → 818

TSP_C; Thrombospondin C-terminal region

pfam12947
Location:258 → 287

EGF_3; EGF domain

cd16079
Location:107 → 149

TSP-3cc; Coiled coil region of thrombospondin-3 (TSP-3)

cl22861
Location:23 → 118

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
NM_001407487.1 → NP_001394416.1 thrombospondin-3 isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AC234582
NM_001407488.1 → NP_001394417.1 thrombospondin-3 isoform 5 precursor

Status: REVIEWED

Source sequence(s)

AC234582
NM_001407490.1 → NP_001394419.1 thrombospondin-3 isoform 6

Status: REVIEWED

Source sequence(s)

AC234582
NM_001407554.1 → NP_001394483.1 thrombospondin-3 isoform 7 precursor

Status: REVIEWED

Source sequence(s)

AC234582
NM_001407555.1 → NP_001394484.1 thrombospondin-3 isoform 8 precursor

Status: REVIEWED

Source sequence(s)

AC234582
NM_001407556.1 → NP_001394485.1 thrombospondin-3 isoform 9

Status: REVIEWED

Source sequence(s)

AC234582
NM_001407557.1 → NP_001394486.1 thrombospondin-3 isoform 9

Status: REVIEWED

Source sequence(s)

AC234582
NM_001407558.1 → NP_001394487.1 thrombospondin-3 isoform 10

Status: REVIEWED

Source sequence(s)

AC234582
NM_001407559.1 → NP_001394488.1 thrombospondin-3 isoform 11

Status: REVIEWED

Source sequence(s)

AC234582
NM_001407560.1 → NP_001394489.1 thrombospondin-3 isoform 12

Status: REVIEWED

Source sequence(s)

AC234582
NM_001407561.1 → NP_001394490.1 thrombospondin-3 isoform 12

Status: REVIEWED

Source sequence(s)

AC234582
NM_001407562.1 → NP_001394491.1 thrombospondin-3 isoform 14

Status: REVIEWED

Source sequence(s)

AC234582
NM_007112.5 → NP_009043.1 thrombospondin-3 isoform 1 precursor

See identical proteins and their annotated locations for NP_009043.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC234582, BC018786, L38969

Consensus CDS

CCDS1099.1

UniProtKB/Swiss-Prot

B1AVR8, B4DQ20, P49746, Q8WV34

UniProtKB/TrEMBL

Q2HIZ0

Related

ENSP00000357362.3, ENST00000368378.7

Conserved Domains (9) summary

smart00210
Location:23 → 193

TSPN; Thrombospondin N-terminal -like domains

cd00054
Location:316 → 351

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

sd00001
Location:528 → 550

TSP3; TSP3 repeat_short [structural motif]

sd00002
Location:551 → 586

TSP3; TSP3 repeat_long [structural motif]

sd00003
Location:458 → 491

TSP3_1C; TSP3 repeat_1C [structural motif]

pfam02412
Location:552 → 586

TSP_3; Thrombospondin type 3 repeat

pfam05735
Location:741 → 938

TSP_C; Thrombospondin C-terminal region

pfam12947
Location:378 → 407

EGF_3; EGF domain

cd16079
Location:227 → 269

TSP-3cc; Coiled coil region of thrombospondin-3 (TSP-3)

RNA

NR_045553.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC018786, BC113846

Related

ENST00000541990.5
NR_176392.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC234582
NR_176393.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC234582

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

155195588..155209178 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011509931.2 → XP_011508233.1 thrombospondin-3 isoform X7

See identical proteins and their annotated locations for XP_011508233.1

UniProtKB/TrEMBL

Q2HIZ0

Conserved Domains (9) summary

cd00054
Location:278 → 313

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

sd00001
Location:490 → 512

TSP3; TSP3 repeat_short [structural motif]

sd00002
Location:513 → 548

TSP3; TSP3 repeat_long [structural motif]

sd00003
Location:420 → 453

TSP3_1C; TSP3 repeat_1C [structural motif]

cd16079
Location:189 → 231

TSP-3cc; Coiled coil region of thrombospondin-3 (TSP-3)

pfam02412
Location:513 → 548

TSP_3; Thrombospondin type 3 repeat

pfam05735
Location:706 → 903

TSP_C; Thrombospondin C-terminal region

pfam12947
Location:340 → 369

EGF_3; EGF domain

cl22861
Location:2 → 155

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
XM_011509928.3 → XP_011508230.1 thrombospondin-3 isoform X4

UniProtKB/TrEMBL

Q2HIZ0

Conserved Domains (9) summary

cd00054
Location:342 → 377

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

sd00001
Location:554 → 576

TSP3; TSP3 repeat_short [structural motif]

sd00002
Location:577 → 612

TSP3; TSP3 repeat_long [structural motif]

sd00003
Location:484 → 517

TSP3_1C; TSP3 repeat_1C [structural motif]

pfam02412
Location:578 → 612

TSP_3; Thrombospondin type 3 repeat

pfam05735
Location:770 → 967

TSP_C; Thrombospondin C-terminal region

pfam12947
Location:404 → 433

EGF_3; EGF domain

cd16079
Location:253 → 295

TSP-3cc; Coiled coil region of thrombospondin-3 (TSP-3)

cl22861
Location:51 → 219

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
XM_047429292.1 → XP_047285248.1 thrombospondin-3 isoform X3
XM_011509927.3 → XP_011508229.1 thrombospondin-3 isoform X2

UniProtKB/TrEMBL

Q2HIZ0

Conserved Domains (9) summary

cd00054
Location:364 → 399

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

sd00001
Location:576 → 598

TSP3; TSP3 repeat_short [structural motif]

sd00002
Location:599 → 634

TSP3; TSP3 repeat_long [structural motif]

sd00003
Location:506 → 539

TSP3_1C; TSP3 repeat_1C [structural motif]

pfam02412
Location:600 → 634

TSP_3; Thrombospondin type 3 repeat

pfam05735
Location:792 → 989

TSP_C; Thrombospondin C-terminal region

pfam12947
Location:426 → 455

EGF_3; EGF domain

cd16079
Location:275 → 317

TSP-3cc; Coiled coil region of thrombospondin-3 (TSP-3)

cl22861
Location:85 → 250

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
XM_047429301.1 → XP_047285257.1 thrombospondin-3 isoform X6
XM_011509930.3 → XP_011508232.1 thrombospondin-3 isoform X5

UniProtKB/TrEMBL

Q2HIZ0

Conserved Domains (9) summary

cd00054
Location:373 → 408

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

sd00001
Location:585 → 607

TSP3; TSP3 repeat_short [structural motif]

sd00002
Location:608 → 643

TSP3; TSP3 repeat_long [structural motif]

sd00003
Location:515 → 548

TSP3_1C; TSP3 repeat_1C [structural motif]

pfam02412
Location:609 → 643

TSP_3; Thrombospondin type 3 repeat

pfam05735
Location:801 → 951

TSP_C; Thrombospondin C-terminal region

pfam12947
Location:435 → 464

EGF_3; EGF domain

cd16079
Location:284 → 326

TSP-3cc; Coiled coil region of thrombospondin-3 (TSP-3)

cl22861
Location:85 → 250

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
XM_011509926.3 → XP_011508228.1 thrombospondin-3 isoform X1

UniProtKB/TrEMBL

Q2HIZ0

Conserved Domains (9) summary

cd00054
Location:373 → 408

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

sd00001
Location:585 → 607

TSP3; TSP3 repeat_short [structural motif]

sd00002
Location:608 → 643

TSP3; TSP3 repeat_long [structural motif]

sd00003
Location:515 → 548

TSP3_1C; TSP3 repeat_1C [structural motif]

pfam02412
Location:609 → 643

TSP_3; Thrombospondin type 3 repeat

pfam05735
Location:801 → 998

TSP_C; Thrombospondin C-terminal region

pfam12947
Location:435 → 464

EGF_3; EGF domain

cd16079
Location:284 → 326

TSP-3cc; Coiled coil region of thrombospondin-3 (TSP-3)

cl22861
Location:85 → 250

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
XM_047429305.1 → XP_047285261.1 thrombospondin-3 isoform X7
XM_011509932.3 → XP_011508234.1 thrombospondin-3 isoform X7

See identical proteins and their annotated locations for XP_011508234.1

UniProtKB/TrEMBL

Q2HIZ0

Conserved Domains (9) summary

cd00054
Location:278 → 313

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

sd00001
Location:490 → 512

TSP3; TSP3 repeat_short [structural motif]

sd00002
Location:513 → 548

TSP3; TSP3 repeat_long [structural motif]

sd00003
Location:420 → 453

TSP3_1C; TSP3 repeat_1C [structural motif]

cd16079
Location:189 → 231

TSP-3cc; Coiled coil region of thrombospondin-3 (TSP-3)

pfam02412
Location:513 → 548

TSP_3; Thrombospondin type 3 repeat

pfam05735
Location:706 → 903

TSP_C; Thrombospondin C-terminal region

pfam12947
Location:340 → 369

EGF_3; EGF domain

cl22861
Location:2 → 155

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
XM_011509936.2 → XP_011508238.1 thrombospondin-3 isoform X9

UniProtKB/TrEMBL

B3KQE1

Conserved Domains (8) summary

smart00179
Location:115 → 149

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:61 → 96

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

sd00001
Location:273 → 295

TSP3; TSP3 repeat_short [structural motif]

sd00002
Location:296 → 331

TSP3; TSP3 repeat_long [structural motif]

sd00003
Location:203 → 236

TSP3_1C; TSP3 repeat_1C [structural motif]

pfam02412
Location:296 → 331

TSP_3; Thrombospondin type 3 repeat

NF000535
Location:194 → 424

MSCRAMM_SdrC; MSCRAMM family adhesin SdrC

cl13107
Location:1 → 14

TSPcc; Coiled coil region of thrombospondin
XM_047429308.1 → XP_047285264.1 thrombospondin-3 isoform X8
XM_047429322.1 → XP_047285278.1 thrombospondin-3 isoform X10
XM_047429323.1 → XP_047285279.1 thrombospondin-3 isoform X11
XM_047429324.1 → XP_047285280.1 thrombospondin-3 isoform X11
XM_047429326.1 → XP_047285282.1 thrombospondin-3 isoform X12