• Gene id: 55812

Gene Summary

• Gene Symbol: SPATA7   Gene   UCSC   Ensembl
• Aliases: HEL-S-296, HSD-3.1, HSD3, LCA3
• Gene name: spermatogenesis associated 7
• Alternate names: spermatogenesis-associated protein 7, epididymis secretory protein Li 296, epididymis secretory sperm binding protein, spermatogenesis-associated protein HSD3,
• Gene location: 14q31.3 (88385637: 88470349)     Exons: 16     NC_000014.9
• Gene summary(Entrez): This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have be
• OMIM: 609868

Protein Summary

• Protein general information: Q9P0W8  
  • Name: Spermatogenesis associated protein 7 (HSD 3.1) (Spermatogenesis associated protein HSD3)
  • Length: 599  
  • Mass: 67719
• Sequence:

  MDGSRRVRATSVLPRYGPPCLFKGHLSTKSNAFCTDSSSLRLSTLQLVKNHMAVHYNKILSAKAAVDCSVPVSVS
  TSIKYADQQRREKLKKELAQCEKEFKLTKTAMRANYKNNSKSLFNTLQKPSGEPQIEDDMLKEEMNGFSSFARSL
  VPSSERLHLSLHKSSKVITNGPEKNSSSSPSSVDYAASGPRKLSSGALYGRRPRSTFPNSHRFQLVISKAPSGDL
  LDKHSELFSNKQLPFTPRTLKTEAKSFLSQYRYYTPAKRKKDFTDQRIEAETQTELSFKSELGTAETKNMTDSEM
  NIKQASNCVTYDAKEKIAPLPLEGHDSTWDEIKDDALQHSSPRAMCQYSLKPPSTRKIYSDEEELLYLSFIEDVT
  DEILKLGLFSNRFLERLFERHIKQNKHLEEEKMRHLLHVLKVDLGCTSEENSVKQNDVDMLNVFDFEKAGNSEPN
  ELKNESEVTIQQERQQYQKALDMLLSAPKDENEIFPSPTEFFMPIYKSKHSEGVIIQQVNDETNLETSTLDENHP
  SISDSLTDRETSVNVIEGDSDPEKVEISNGLCGLNTSPSQSVQFSSVKGDNNHDMELSTLKIMEMSIEDCPLDV

• Structural information:
  • Interpro: IPR029357  
  • STRING: ENSP00000377176
• Other Databases: GeneCards:  SPATA7  Malacards:  SPATA7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903621	protein localization to photoreceptor connecting cilium	IBA	biological process
GO:1903546	protein localization to photoreceptor outer segment	IBA	biological process
GO:0120206	photoreceptor distal connecting cilium	IBA	cellular component
GO:0120200	rod photoreceptor outer segment	IBA	cellular component
GO:0045494	photoreceptor cell maintenance	IBA	biological process
GO:0036064	ciliary basal body	IBA	cellular component
GO:0005930	axoneme	IBA	cellular component
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component
GO:1903546	protein localization to photoreceptor outer segment	ISS	biological process
GO:1903621	protein localization to photoreceptor connecting cilium	ISS	biological process
GO:0045494	photoreceptor cell maintenance	ISS	biological process
GO:0032391	photoreceptor connecting cilium	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:1903621	protein localization to photoreceptor connecting cilium	IEA	biological process
GO:1903546	protein localization to photoreceptor outer segment	IEA	biological process
GO:0120206	photoreceptor distal connecting cilium	IEA	cellular component
GO:0120200	rod photoreceptor outer segment	IEA	cellular component
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Leber congenital amaurosis	KEGG: H00837
Associated with spermatogenesis	MIK: 30358834
Leber congenital amaurosis	KEGG:H00837
Leber congenital amaurosis	KEGG:H00837
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray