• Gene id: 95681

Gene Summary

• Gene Symbol: CEP41   Gene   UCSC   Ensembl
• Aliases: JBTS15, TSGA14
• Gene name: centrosomal protein 41
• Alternate names: centrosomal protein of 41 kDa, centrosomal protein 41 kDa, centrosomal protein 41kDa, testis specific protein A14, testis specific, 14, testis-specific gene A14 protein,
• Gene location: 7q32.2 (130441209: 130393770)     Exons: 14     NC_000007.14
• Gene summary(Entrez): This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have
• OMIM: 610523

Protein Summary

• Protein general information: Q9BYV8  
  • Name: Centrosomal protein of 41 kDa (Cep41) (Testis specific gene A14 protein)
  • Length: 373  
  • Mass: 41368
  • Tissue specificity: Isoform 1 and isoform 4 are expressed in testis and fetal tissues. {ECO
• Sequence:

  MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVAS
  LSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELD
  LDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILY
  DDDERLASQAATTMCERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKW
  RFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK

• Structural information:
  • Protein Domains: (169..26-)
    (/note="Rhodanese-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00173"-)
  • Interpro: IPR001763  IPR036873  
  • Prosite: PS50206
  • STRING: ENSP00000223208
• Other Databases: GeneCards:  CEP41  Malacards:  CEP41

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0018095	protein polyglutamylation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0010389	regulation of G2/M transition of mitotic cell cycle	TAS	biological process
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Joubert syndrome	KEGG:H00530
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R