• Gene id: 55901

Gene Summary

• Gene Symbol: THSD1   Gene   UCSC   Ensembl
• Aliases: ANIB12, TMTSP, UNQ3010
• Gene name: thrombospondin type 1 domain containing 1
• Alternate names: thrombospondin type-1 domain-containing protein 1, 4833423O18Rik, thrombospondin, type I, domain containing 1, transmembrane molecule with thrombospondin module,
• Gene location: 13q14.3 (52406171: 52377166)     Exons: 5     NC_000013.11
• Gene summary(Entrez): 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
• OMIM: 616821

Protein Summary

• Protein general information: Q9NS62  
  • Name: Thrombospondin type 1 domain containing protein 1 (Transmembrane molecule with thrombospondin module)
  • Length: 852  
  • Mass: 94584
• Sequence:

  MKPMLKDFSNLLLVVLCDYVLGEAEYLLLREPGHVALSNDTVYVDFQYFDGANGTLRNVSVLLLEANTNQTVTTK
  YLLTNQSQGTLKFECFYFKEAGDYWFTMTPEATDNSTPFPWWEKSAFLKVEWPVFHVDLNRSAKAAEGTFQVGLF
  TSQPLCPFPVDKPNIVVDVIFTNSLPEARRNSRQPLEIRTSKRTELAQGQWVEFGCAPLGPEAYVTVVLKLLGRD
  SVITSTGPIDLAQKFGYKLVMVPELTCESGVEVTVLPPPCTFVQGVVTVFKEAPRYPGKRTIHLAENSLPLGERR
  TIFNCTLFDMGKNKYCFDFGISSRSHFSAKEECMLIQRNTETWGLWQPWSQCSATCGDGVRERRRVCLTSFPSSP
  VCPGMSLEASLCSLEECAAFQPSSPSPLQPQGPVKSNNIVTVTGISLCLFIIIATVLITLWRRFGRPAKCSTPAR
  HNSIHSPSFRKNSDEENICELSEQRGSFSDGGDGPTGSPGDTGIPLTYRRSGPVPPEDDASGSESFQSNAQKIIP
  PLFSYRLAQQQLKEMKKKGLTETTKVYHVSQSPLTDTAIDAAPSAPLDLESPEEAAANKFRIKSPFPEQPAVSAG
  ERPPSRLDLNVTQASCAISPSQTLIRKSQARHVGSRGGPSERSHARNAHFRRTASFHEARQARPFRERSMSTLTP
  RQAPAYSSRTRTCEQAEDRFRPQSRGAHLFPEKLEHFQEASGTRGPLNPLPKSYTLGQPLRKPDLGDHQAGLVAG
  IERTEPHRARRGPSPSHKSVSRKQSSPISPKDNYQRVSSLSPSQCRKDKCQSFPTHPEFAFYDNTSFGLTEAEQR
  MLDLPGYFGSNEEDETTSTLSVEKLVI

• Structural information:
  • Protein Domains: (340..39-)
    (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210"-)
  • Interpro: IPR038877  IPR000884  IPR036383  
  • Prosite: PS50092
  • STRING: ENSP00000258613
• Other Databases: GeneCards:  THSD1  Malacards:  THSD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071944	cell periphery	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005925	focal adhesion	IMP	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray