• Gene id: 79875

Gene Summary

• Gene Symbol: THSD4   Gene   UCSC   Ensembl
• Aliases: ADAMTSL-6, ADAMTSL6, FVSY9334, PRO34005
• Gene name: thrombospondin type 1 domain containing 4
• Alternate names: thrombospondin type-1 domain-containing protein 4, A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6, ADAMTS-like protein 6, thrombospondin, type I, domain containing 4,
• Gene location: 15q23 (71115615: 71783382)     Exons: 1     NC_000015.10
• OMIM: 614476

Protein Summary

• Protein general information: Q6ZMP0  
  • Name: Thrombospondin type 1 domain containing protein 4 (A disintegrin and metalloproteinase with thrombospondin motifs like protein 6) (ADAMTS like protein 6) (ADAMTSL 6)
  • Length: 1018  
  • Mass: 112450
• Sequence:

  MVSHFMGSLSVLCFLLLLGFQFVCPQPSTQHRKVPQRMAAEGAPEDDGGGGAPGVWGAWGPWSACSRSCSGGVME
  QTRPCLPRSYRLRGGQRPGAPARAFADHVVSAVRTSVPLHRSRDETPALAGTDASRQGPTVLRGSRHPQPQGLEV
  TGDRRSRTRGTIGPGKYGYGKAPYILPLQTDTAHTPQRLRRQKLSSRHSRSQGASSARHGYSSPAHQVPQHGPLY
  QSDSGPRSGLQAAEAPIYQLPLTHDQGYPAASSLFHSPETSNNHGVGTHGATQSFSQPARSTAISCIGAYRQYKL
  CNTNVCPESSRSIREVQCASYNNKPFMGRFYEWEPFAEVKGNRKCELNCQAMGYRFYVRQAEKVIDGTPCDQNGT
  AICVSGQCKSIGCDDYLGSDKVVDKCGVCGGDNTGCQVVSGVFKHALTSLGYHRVVEIPEGATKINITEMYKSNN
  YLALRSRSGRSIINGNWAIDRPGKYEGGGTMFTYKRPNEISSTAGESFLAEGPTNEILDVYMIHQQPNPGVHYEY
  VIMGTNAISPQVPPHRRPGEPFNGQMVTEGRSQEEGEQKGRNEEKEDLRGEAPEMFTSESAQTFPVRHPDRFSPH
  RPDNLVPPAPQPPRRSRDHNWKQLGTTECSTTCGKGSQYPIFRCVHRSTHEEAPESYCDSSMKPTPEEEPCNIFP
  CPAFWDIGEWSECSKTCGLGMQHRQVLCRQVYANRSLTVQPYRCQHLEKPETTSTCQLKICSEWQIRTDWTSCSV
  PCGVGQRTRDVKCVSNIGDVVDDEECNMKLRPNDIENCDMGPCAKSWFLTEWSERCSAECGAGVRTRSVVCMTNH
  VSSLPLEGCGNNRPAEATPCDNGPCTGKVEWFAGSWSQCSIECGSGTQQREVICVRKNADTFEVLDPSECSFLEK
  PPSQQSCHLKPCGAKWFSTEWSMCSKSCQGGFRVREVRCLSDDMTLSNLCDPQLKPEERESCNPQDCVPEVDENC
  KDKYYNCNVVVQARLCVYNYYKTACCASCTRVANRQTGFLGSR

• Structural information:
  • Protein Domains: (53..30-)
    1 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (676..73-)
    2 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (739..79-)
    3 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-Pr-)
  • Interpro: IPR010294  IPR010909  IPR000884  IPR036383  
  • Prosite: PS50900 PS50092
  • STRING: ENSP00000347484
• Other Databases: GeneCards:  THSD4  Malacards:  THSD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008233	peptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0031012	extracellular matrix	IEA	cellular component
GO:0048251	elastic fiber assembly	IEA	biological process
GO:0001527	microfibril	IEA	cellular component
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray