• Gene id: 79848

Gene Summary

• Gene Symbol: CSPP1   Gene   UCSC   Ensembl
• Aliases: CSPP, CSPP-L, JBTS21
• Gene name: centrosome and spindle pole associated protein 1
• Alternate names: centrosome and spindle pole-associated protein 1,
• Gene location: 8q13.1-q13.2 (67062416: 67198002)     Exons: 35     NC_000008.11
• Gene summary(Entrez): This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in
• OMIM: 611654

Protein Summary

• Protein general information: Q1MSJ5  
  • Name: Centrosome and spindle pole associated protein 1
  • Length: 1256  
  • Mass: 145522
  • Tissue specificity: Expressed in adult and fetal brain with enrichment in the cerebellum. Detected in testis. {ECO
• Sequence:

  MLFPLQVAAVTSSVRDDPLEHCVSPRTRARSPEICKMADNLDEFIEEQKARLAEDKAELESDPPYMEMKGKLSAK
  LSENSKILISMAKENIPPNSQQTRGSLGIDYGLSLPLGEDYERKKHKLKEELRQDYRRYLTQGITQGKRKKNFLS
  TSETDPSTLGVSLPIGERLSAKERLKLERNKEYNQFLRGKEESSEKFRQVEKSTEPKSQRNKKPIGQVKPDLTSQ
  IQTSCENSEGPRKDVLTPSEAYEELLNQRRLEEDRYRQLDDEIELRNRRIIKKANEEVGISNLKHQRFASKAGIP
  DRRFHRFNEDRVFDRRYHRPDQDPEVSEEMDERFRYESDFDRRLSRVYTNDRMHRNKRGNMPPMEHDGDVIEQSN
  IRISSAENKSAPDNETSKSANQDTCSPFAGMLFGGEDRELIQRRKEKYRLELLEQMAEQQRNKRREKDLELRVAA
  SGAQDPEKSPDRLKQFSVAPRHFEEMIPPERPRIAFQTPLPPLSAPSVPPIPSVHPVPSQNEDLRSGLSSALGEM
  VSPRIAPLPPPPLLPPLATNYRTPYDDAYYFYGSRNTFDPSLAYYGSGMMGVQPAAYVSAPVTHQLAQPVVNTVG
  QNELKITSDQVINSGLIFEDKPKPSKQSLQSYQEALQQQIREREERRKKEREEKEEYEAKLEAEMRTYNPWGKGG
  GGAPLRDAKGNLITDLNRMHRQNIDAYHNPDARTYEDKRAVVSLDPNLATSNAENLEDAANKSSGHMQTQSSPFA
  RGNVFGEPPTELQIKQQELYKNFLRFQIEEKKQREEAERERLRIAEEKEERRLAEQRARIQQEYEEEQEKKREKE
  EEQRLKNEEHIRLAEERQKEAERKKKEEEEKYNLQLQHYCERDNLIGEETKHMRQPSPIVPALQNKIASKLQRPP
  SVDSIIRSFIHESSMSRAQSPPVPARKNQLRAEEEKKNVIMELSEMRKQLRSEERRLQERLLHMDSDDEIPIRKK
  ERNPMDIFDMARHRLQAPVRRQSPKGLDAATFQNVHDFNELKDRDSETRVDLKFMYLDPPRDHHTLEIQQQALLR
  EQQKRLNRIKMQEGAKVDLDAIPSAKVREQRMPRDDTSDFLKNSLLESDSAFIGAYGETYPAIEDDVLPPPSQLP
  SARERRRNKWKGLDIDSSRPNVAPDGLSLKSISSVNVDELRVRNEERMRRLNEFHNKPINTDDESSLVDPDDIMK
  HIGDDGSNSVATEPWLRPGTSETLKRFMAEQLNQEQQQIPGKPGTFTWQGLSTAHG

• Structural information:
  • Interpro: IPR026708  
  • STRING: ENSP00000262210
• Other Databases: GeneCards:  CSPP1  Malacards:  CSPP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000922	spindle pole	IBA	cellular component
GO:0032467	positive regulation of cytokinesis	IBA	biological process
GO:0005813	centrosome	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005819	spindle	IDA	cellular component
GO:0000922	spindle pole	IDA	cellular component
GO:0051781	positive regulation of cell division	IMP	biological process
GO:0032467	positive regulation of cytokinesis	IMP	biological process
GO:0005813	centrosome	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0032467	positive regulation of cytokinesis	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Joubert syndrome	KEGG:H00530
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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