THBS3 - thrombospondin 3 Gene

Also Known as TSP3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7059

About THBS3

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:155,195,588-155,209,178 (from NCBI)

This gene has 11 transcripts (splice variants), 238 orthologues and 5 paralogues. Ubiquitous expression in endometrium (RPKM 9.2), gall bladder (RPKM 7.8) and 25 other tissues.

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]

THBS3 Products (15)

mRNA Protein Name
NM_001252607.2 NP_001239536.1 thrombospondin-3 isoform 2 precursor
NM_001252608.2 NP_001239537.1 thrombospondin-3 isoform 3 precursor
NM_001407487.1 NP_001394416.1 thrombospondin-3 isoform 4 precursor
NM_001407488.1 NP_001394417.1 thrombospondin-3 isoform 5 precursor
NM_001407490.1 NP_001394419.1 thrombospondin-3 isoform 6
NM_001407554.1 NP_001394483.1 thrombospondin-3 isoform 7 precursor
NM_001407555.1 NP_001394484.1 thrombospondin-3 isoform 8 precursor
NM_001407556.1 NP_001394485.1 thrombospondin-3 isoform 9
NM_001407557.1 NP_001394486.1 thrombospondin-3 isoform 9
NM_001407558.1 NP_001394487.1 thrombospondin-3 isoform 10
NM_001407559.1 NP_001394488.1 thrombospondin-3 isoform 11
NM_001407560.1 NP_001394489.1 thrombospondin-3 isoform 12
NM_001407561.1 NP_001394490.1 thrombospondin-3 isoform 12
NM_001407562.1 NP_001394491.1 thrombospondin-3 isoform 14
NM_007112.5 NP_009043.1 thrombospondin-3 isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables heparin binding IDA
IDA: Inferred from direct assay
8288588 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
Cellular Component GO Annotation Evidence References Source
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
11943589 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

THBS3 Protein Structure

COMP

COMP: Cartilage oligomeric matrix protein (227 - 270)

EGF_CA

EGF_CA: Calcium-binding EGF domain (316 - 350)

EGF_CA

EGF_CA: Calcium-binding EGF domain (370 - 411)

TSP_3

TSP_3: Thrombospondin type 3 repeat (492 - 527)

TSP_3

TSP_3: Thrombospondin type 3 repeat (551 - 586)

TSP_3

TSP_3: Thrombospondin type 3 repeat (587 - 609)

TSP_3

TSP_3: Thrombospondin type 3 repeat (610 - 647)

TSP_3

TSP_3: Thrombospondin type 3 repeat (649 - 687)

TSP_3

TSP_3: Thrombospondin type 3 repeat (688 - 722)

TSP_C

TSP_C: Thrombospondin C-terminal region (741 - 941)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 956 a.a.
Protein Preferred Names Protein Names

thrombospondin-3

THBS3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
THBS3 P49746 NEK7 Homo sapiens Q8TDX7 32814053
Intra
THBS3 P49746 NEK7 Homo sapiens Q8TDX7 32814053
Intra
THBS3 P49746 NEK7 Homo sapiens Q8TDX7 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Pseudoachondroplasia
  • PSACH

  • Pseudoachondroplastic Dysplasia

  • Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome

  • Spondyloepiphyseal Dysplasia, Pseudoachondroplastic

  • Pseudoachondroplastic Spondyloepiphyseal Dysplasia

  • Spondyloepiphyseal Dysplasia Pseudoachondroplastic

Gaucher'S Disease
  • Gaucher Disease

  • Kerasin Thesaurismosis

  • Glucocerebrosidase Deficiency

  • Glucosylceramidase Deficiency

  • Cerebroside Lipidosis Syndrome

  • Acid Beta-Glucosidase Deficiency

  • Glucosylceramide Beta-Glucosidase Deficiency

  • Acute Cerebral Gaucher Disease

  • Gaucher Splenomegaly

  • Glucocerebrosidosis

  • Glucosyl Cerebroside Lipidosis

  • Kerasin Lipoidosis

  • Lipoid Histiocytosis

  • Glocucerebrosidase Deficiency

  • Sphingolipidosis 1

  • Gaucher Syndrome

  • Gauchers Disease

  • Gd

  • Glucosylceramide Lipidosis

  • Kerasin Histiocytosis

  • Gaucher Disease, Type 1

  • Gaucher Disease, Type 2

Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency
  • BCKDKD

  • Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency

  • Bckdk Deficiency

  • Autism-Epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency

Tracheal Calcification
  • Calcification Of Trachea

Pregnancy Adenoma
  • Lactating Adenoma

Multiple Epiphyseal Dysplasia
  • Med

  • Polyepiphyseal Dysplasia

  • Edm

  • Epiphyseal Dysplasia, Multiple, 1

  • Epiphyseal Dysplasia, Multiple, 2

  • Epiphyseal Dysplasia, Multiple, 3

  • Epiphyseal Dysplasia, Multiple, 4

  • Epiphyseal Dysplasia, Multiple, 5

  • Epiphyseal Dysplasia, Multiple

  • Edm1

  • Edm2

  • Edm3

  • Edm4

  • Edm5

  • Epiphyseal Dysplasia, Fairbank Type

  • Epiphyseal Dysplasia, Ribbing Type

  • Multiple Epiphyseal Dysplasia, Autosomal Dominant

  • Multiple Epiphyseal Dysplasia, Autosomal Recessive

  • Rmed

  • Dysplasia, Epiphyseal, Multiple

  • Osteochondrodysplasias

Alveolar Echinococcosis
  • Echinococcus Multilocularis Infection

  • Echinococcosis

  • Alveolococcosis

  • Multilocular Hydatid

  • Small Fox Tapeworm

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus THBS3 RGD RGD:1596780
Mus musculus THBS3 MGD MGI:98739
Macaca mulatta THBS3 VGNC VGNC:78345
Bos taurus THBS3 VGNC VGNC:35830
Canis familiaris THBS3 VGNC VGNC:47337
Felis catus THBS3 VGNC VGNC:66156
Others THBS3 NCBI