CEP41 (centrosomal protein 41)

Gene

• Entrez ID: 95681
• Gene name: Centrosomal protein 41
• Gene symbol: CEP41
• Synonyms (NCBI Gene): JBTS15, TSGA14
• Chromosome: 7
• Chromosome location: 7q32.2
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140259402	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs147444165	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs368178632	A>G	Pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, intron variant, coding sequence variant, initiator codon variant, non coding transcript variant
rs371812716	G>A	Pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs781815473	T>C,G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs781848162	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, intron variant
rs1584867379	CC>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1584901211	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016483	hsa-miR-193b-3p	Microarray	20304954
MIRT020777	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT756250	hsa-miR-23a-3p	Luciferase reporter assay	37372085

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22246503, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	14654843, 21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	22246503
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	22246503
GO:0005929	Component	Cilium	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0018095	Process	Protein polyglutamylation	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	22246503
GO:0036064	Component	Ciliary basal body	IEA
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	22246503

Other IDs

• MIM: 610523
• HGNC: 12370
• e!Ensembl: ENSG00000106477

Protein

• UniProt ID: Q9BYV8
• Protein name: Centrosomal protein of 41 kDa (Cep41) (Testis-specific gene A14 protein)
• Protein function: Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00581	Rhodanese	161 → 260	Rhodanese-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 1]: Expressed in testis and fetal tissues. {ECO:0000269|PubMed:12034494}.; TISSUE SPECIFICITY: [Isoform 3]: Expressed in testis and fetal tissues. {ECO:0000269|PubMed:12034494}.
• Sequence:

  MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKR
  LKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSP
  SPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRD
  RDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMC
  ERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKW
  RFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPR
  SLSSGHLQGKPWK

• Sequence length: 373

Pathways

Reactome:

Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
CEP41-related disorder	Pathogenic	rs781815473	RCV004757385
Familial Autism Spectrum Disorder	Likely pathogenic	rs146662384	RCV001261712
Joubert syndrome 15	Pathogenic; Likely pathogenic	rs1797714974, rs1798139951, rs1796956272, rs139123547, rs2536052433, rs2536060147, rs781848162, rs782180322, rs1797356889, rs1584916464, rs2117674119, rs781815473, rs1584901211, rs1584867379	RCV001331069 RCV001972556 RCV002002640 RCV002510731 RCV002696155 RCV003052508 RCV002519041 RCV003529574 RCV003529792 RCV000023823 RCV000023824 RCV000023825 RCV000023829 RCV000853324 RCV001227158

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Likely benign	rs11765434	RCV005895719
Adrenocortical carcinoma, hereditary	Uncertain significance	rs201834429	RCV005898124
Cervical cancer	Benign; Likely benign	rs11765434	RCV005895721
Clear cell carcinoma of kidney	Benign; Likely benign	rs11765434	RCV005895722
Colon adenocarcinoma	Benign; Likely benign	rs11765434	RCV005895718
Colorectal cancer	Conflicting classifications of pathogenicity	rs782483563	RCV005866887
Familial cancer of breast	Benign; Likely benign	rs11765434	RCV005895717
Intellectual disability	Conflicting classifications of pathogenicity	rs143303575	RCV005621939
Joubert syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs782460743, rs532169706, rs3839655, rs886061997, rs55776575, rs10230670, rs10230435, rs542293061, rs886061999, rs886062003, rs545406161	RCV000261588 RCV000383758 RCV000275278 RCV000354279 RCV000261250 RCV000296288 RCV000350146 RCV000334890 RCV000375657 RCV000283449 RCV000388369 RCV000406659 RCV000626201
JOUBERT SYNDROME 12/15, DIGENIC	Uncertain significance	rs140259402	RCV000023826
Joubert syndrome 9/15, digenic	Uncertain significance	rs368178632, rs371812716	RCV000023827 RCV000023828
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs11765434	RCV005895723
Malignant tumor of esophagus	Benign; Likely benign	rs11765434	RCV005895720
Malignant tumor of urinary bladder	Uncertain significance	rs976909451	RCV005928573
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs11765434	RCV005895725
Sarcoma	Benign; Likely benign	rs11765434	RCV005895724
Thymoma	Uncertain significance	rs782474335	RCV005925493

Associations from Text Mining
Disease Name	Relationship Type	References
Alcohol Related Disorders	Associate	29588463
Autism Spectrum Disorder	Associate	21438139
Autistic Disorder	Associate	21438139
Colorectal Neoplasms	Associate	35247911
Connective Tissue Diseases	Associate	22208759
Eye Diseases Hereditary	Associate	29588463
Genetic Diseases Inborn	Associate	22208759
Heredodegenerative Disorders Nervous System	Associate	22208759
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	22208759
Sarcoma Ewing	Associate	24005033