• Gene id: 25876

Gene Summary

• Gene Symbol: SPEF1   Gene   UCSC   Ensembl
• Aliases: C20orf28, CLAMP, SPEF1A
• Gene name: sperm flagellar 1
• Alternate names: sperm flagellar protein 1, calponin-homology and microtubule-associated protein,
• Gene location: 20p13 (3781447: 3777503)     Exons: 7     NC_000020.11
• OMIM: 605567

Protein Summary

• Protein general information: Q9Y4P9  
  • Name: Sperm flagellar protein 1
  • Length: 236  
  • Mass: 26987
• Sequence:

  MASSVDEEALHQLYLWVDNIPLSRPKRNLSRDFSDGVLVAEVIKFYFPKMVEMHNYVPANSLQQKLSNWGHLNRK
  VLKRLNFSVPDDVMRKIAQCAPGVVELVLIPLRQRLEERQRRRKQGAGSLQELAPQDGSGYMDVGVSQKARGEGV
  PDPQGGGQLSWDRPPAPRPPAYNRALQGDPSFVLQIAEKEQELLASQETVQVLQMKVRRLEHLLQLKNVRIEDLS
  RRLQQAERKQR

• Structural information:
  • Protein Domains: (7..11-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044"-)
  • Interpro: IPR001715  IPR010441  IPR036872  
  • Prosite: PS50021
  • PDB: 2EE7
  • PDBsum: 2EE7
  • STRING: ENSP00000369080
• Other Databases: GeneCards:  SPEF1  Malacards:  SPEF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005930	axoneme	IBA	cellular component
GO:0008017	microtubule binding	IBA	molecular function
GO:0051493	regulation of cytoskeleton organization	IBA	biological process
GO:0005930	axoneme	ISS	cellular component
GO:0016477	cell migration	ISS	biological process
GO:0008017	microtubule binding	ISS	molecular function
GO:0007026	negative regulation of microtubule depolymerization	ISS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008017	microtubule binding	IEA	molecular function
GO:0031514	motile cilium	IEA	cellular component
GO:0007026	negative regulation of microtubule depolymerization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R