• Gene id: 89970

Gene Summary

• Gene Symbol: RSPRY1   Gene   UCSC   Ensembl
• Aliases: SEMDFA
• Gene name: ring finger and SPRY domain containing 1
• Alternate names: RING finger and SPRY domain-containing protein 1,
• Gene location: 16q13 (57186136: 57240472)     Exons: 17     NC_000016.10
• Gene summary(Entrez): This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
• OMIM: 616585

Protein Summary

• Protein general information: Q96DX4  
  • Name: RING finger and SPRY domain containing protein 1
  • Length: 576  
  • Mass: 64180
• Sequence:

  MIVFGWAVFLASRSLGQGLLLTLEEHIAHFLGTGGAATTMGNSCICRDDSGTDDSVDTQQQQAENSAVPTADTRS
  QPRDPVRPPRRGRGPHEPRRKKQNVDGLVLDTLAVIRTLVDNDQEPPYSMITLHEMAETDEGWLDVVQSLIRVIP
  LEDPLGPAVITLLLDECPLPTKDALQKLTEILNLNGEVACQDSSHPAKHRNTSAVLGCLAEKLAGPASIGLLSPG
  ILEYLLQCLKLQSHPTVMLFALIALEKFAQTSENKLTISESSISDRLVTLESWANDPDYLKRQVGFCAQWSLDNL
  FLKEGRQLTYEKVNLSSIRAMLNSNDVSEYLKISPHGLEARCDASSFESVRCTFCVDAGVWYYEVTVVTSGVMQI
  GWATRDSKFLNHEGYGIGDDEYSCAYDGCRQLIWYNARSKPHIHPCWKEGDTVGFLLDLNEKQMIFFLNGNQLPP
  EKQVFSSTVSGFFAAASFMSYQQCEFNFGAKPFKYPPSMKFSTFNDYAFLTAEEKIILPRHRRLALLKQVSIREN
  CCSLCCDEVADTQLKPCGHSDLCMDCALQLETCPLCRKEIVSRIRQISHIS

• Structural information:
  • Protein Domains: (300..48-)
    (/note="B30.2/SPRY-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00548"-)
  • Interpro: IPR016024  IPR001870  IPR013320  IPR003877  IPR035774   IPR001841  IPR013083  
  • Prosite: PS50188 PS50089
  • CDD: cd12883
  • STRING: ENSP00000443176
• Other Databases: GeneCards:  RSPRY1  Malacards:  RSPRY1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0051603	proteolysis involved in cellular protein catabolic process	IBA	biological process
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component

Diseases

Associated diseases	References
Spondyloepimetaphyseal dysplasia	KEGG:H02187
Spondyloepimetaphyseal dysplasia	KEGG:H02187
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881