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Protein

Centrosomal protein of 41 kDa

Gene

CEP41

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-2565942. Regulation of PLK1 Activity at G2/M Transition.
R-HSA-380259. Loss of Nlp from mitotic centrosomes.
R-HSA-380270. Recruitment of mitotic centrosome proteins and complexes.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.
R-HSA-8854518. AURKA Activation by TPX2.

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 41 kDa
Short name:
Cep41
Alternative name(s):
Testis-specific gene A14 protein
Gene namesi
Name:CEP41
Synonyms:TSGA14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:12370. CEP41.

Subcellular locationi

GO - Cellular componenti

  • cell-cell junction Source: GO_Central
  • cell surface Source: GO_Central
  • centriole Source: UniProtKB
  • centrosome Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • cilium Source: UniProtKB
  • cytosol Source: Reactome
  • membrane Source: UniProtKB
  • plasma membrane Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Joubert syndrome 15 (JBTS15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis and polydactyly.
See also OMIM:614464

Genetic variations in CEP41 may be associated with susceptibility to autism (PubMed:21438139).

Keywords - Diseasei

Autism, Autism spectrum disorder, Ciliopathy, Joubert syndrome

Organism-specific databases

DisGeNETi95681.
MalaCardsiCEP41.
MIMi614464. phenotype.
OpenTargetsiENSG00000106477.
Orphaneti475. Joubert syndrome.
220493. Joubert syndrome with ocular defect.
PharmGKBiPA37039.

Polymorphism and mutation databases

BioMutaiCEP41.
DMDMi56748870.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000894891 – 373Centrosomal protein of 41 kDaAdd BLAST373

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei96PhosphoserineBy similarity1
Modified residuei99PhosphoserineBy similarity1
Modified residuei109PhosphothreonineBy similarity1
Modified residuei121PhosphoserineBy similarity1
Modified residuei343Omega-N-methylarginineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ9BYV8.
MaxQBiQ9BYV8.
PaxDbiQ9BYV8.
PeptideAtlasiQ9BYV8.
PRIDEiQ9BYV8.

PTM databases

iPTMnetiQ9BYV8.
PhosphoSitePlusiQ9BYV8.

Expressioni

Tissue specificityi

Isoform 1 and isoform 4 are expressed in testis and fetal tissues.1 Publication

Gene expression databases

BgeeiENSG00000106477.
CleanExiHS_TSGA14.
ExpressionAtlasiQ9BYV8. baseline and differential.
GenevisibleiQ9BYV8. HS.

Organism-specific databases

HPAiHPA024090.

Interactioni

Subunit structurei

Found in a complex with TTLL6.

Protein-protein interaction databases

BioGridi125173. 5 interactors.
IntActiQ9BYV8. 2 interactors.
STRINGi9606.ENSP00000223208.

Structurei

3D structure databases

ProteinModelPortaliQ9BYV8.
SMRiQ9BYV8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini169 – 266RhodanesePROSITE-ProRule annotationAdd BLAST98

Domaini

Although it contains a rhodanese domain, does not display phosphatase activity, suggesting that the protein is enzymatically inactive.1 Publication

Sequence similaritiesi

Belongs to the CEP41 family.Curated
Contains 1 rhodanese domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IHZ1. Eukaryota.
ENOG410XRR4. LUCA.
GeneTreeiENSGT00390000002222.
HOGENOMiHOG000252966.
HOVERGENiHBG050896.
InParanoidiQ9BYV8.
KOiK16455.
OMAiKAEPNTK.
OrthoDBiEOG091G0NP4.
PhylomeDBiQ9BYV8.
TreeFamiTF324682.

Family and domain databases

Gene3Di3.40.250.10. 1 hit.
InterProiIPR001763. Rhodanese-like_dom.
[Graphical view]
PfamiPF00581. Rhodanese. 1 hit.
[Graphical view]
SMARTiSM00450. RHOD. 1 hit.
[Graphical view]
SUPFAMiSSF52821. SSF52821. 1 hit.
PROSITEiPS50206. RHODANESE_3. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BYV8-1) [UniParc]FASTAAdd to basket
Also known as: L-type

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSLRRHIGNP EYLMKRIPQN PRYQHIKSRL DTGNSMTKYT EKLEEIKKNY
60 70 80 90 100
RYKKDELFKR LKVTTFAQLI IQVASLSDQT LEVTAEEIQR LEDNDSAASD
110 120 130 140 150
PDAETTARTN GKGNPGEQSP SPEQFINNAG AGDSSRSTLQ SVISGVGELD
160 170 180 190 200
LDKGPVKKAE PHTKDKPYPD CPFLLLDVRD RDSYQQCHIV GAYSYPIATL
210 220 230 240 250
SRTMNPYSND ILEYKNAHGK IIILYDDDER LASQAATTMC ERGFENLFML
260 270 280 290 300
SGGLKVLAQK FPEGLITGSL PASCQQALPP GSARKRSSPK GPPLPAENKW
310 320 330 340 350
RFTPEDLKKI EYYLEEEQGP ADHPSRLNQA NSSGRESKVP GARSAQNLPG
360 370
GGPASHSNPR SLSSGHLQGK PWK
Length:373
Mass (Da):41,368
Last modified:June 1, 2001 - v1
Checksum:i406F7FA9E8A4EAF8
GO
Isoform 2 (identifier: Q9BYV8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     254-325: Missing.

Show »
Length:301
Mass (Da):33,459
Checksum:i708B91138A9EAF0A
GO
Isoform 3 (identifier: Q9BYV8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-238: Missing.

Show »
Length:135
Mass (Da):14,544
Checksum:i6AB16C4A014E74F5
GO
Isoform 4 (identifier: Q9BYV8-4) [UniParc]FASTAAdd to basket
Also known as: S-type

The sequence of this isoform differs from the canonical sequence as follows:
     34-54: NSMTKYTEKLEEIKKNYRYKK → ACVYLTSSPALPDCAMNGLCF
     55-373: Missing.

Show »
Length:54
Mass (Da):6,165
Checksum:iB262112EAF393402
GO
Isoform 5 (identifier: Q9BYV8-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     33-49: GNSMTKYTEKLEEIKKN → D
     254-325: Missing.

Note: No experimental confirmation available.
Show »
Length:285
Mass (Da):31,579
Checksum:iCA767ECB6A538A43
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti170D → G in BAB15359 (PubMed:14702039).Curated1
Sequence conflicti279P → S in CAB94886 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06705336M → T Probable disease-associated mutation found in a patient with Joubert syndrome; digenic inheritance; the patient also carries a truncating mutation in CC2D2A. 1 PublicationCorresponds to variant rs368178632dbSNPEnsembl.1
Natural variantiVAR_06705489Q → E Found in a patient with Meckel syndrome; unknown pathological significance. 1 Publication1
Natural variantiVAR_067055179R → H Probable disease-associated mutation found in a patient with Joubert syndrome; digenic inheritance; the patient also carries a truncating mutation in KIF7. 1 PublicationCorresponds to variant rs140259402dbSNPEnsembl.1
Natural variantiVAR_067056206P → A Found in a patient with autism; unknown pathological significance. 1 PublicationCorresponds to variant rs143303575dbSNPEnsembl.1
Natural variantiVAR_067057240C → G Found in a patient with autism; unknown pathological significance. 1 PublicationCorresponds to variant rs113941736dbSNPEnsembl.1
Natural variantiVAR_067058360R → C Probable disease-associated mutation found in a patient with Joubert syndrome; digenic inheritance; the patient also carries mutation A-1447 in CC2D2A. 1 PublicationCorresponds to variant rs371812716dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0122451 – 238Missing in isoform 3. 1 PublicationAdd BLAST238
Alternative sequenceiVSP_04257933 – 49GNSMT…EIKKN → D in isoform 5. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_01224634 – 54NSMTK…YRYKK → ACVYLTSSPALPDCAMNGLC F in isoform 4. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_01224755 – 373Missing in isoform 4. 1 PublicationAdd BLAST319
Alternative sequenceiVSP_012248254 – 325Missing in isoform 2 and isoform 5. 2 PublicationsAdd BLAST72

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF429308 mRNA. Translation: AAM43959.1.
AF429309 mRNA. Translation: AAM43960.1.
AJ278890 mRNA. Translation: CAC33567.1.
AY186739 mRNA. Translation: AAO31692.1.
AK026098 mRNA. Translation: BAB15359.1.
AK298618 mRNA. Translation: BAG60797.1.
AK314676 mRNA. Translation: BAG37230.1.
AC007938 Genomic DNA. No translation available.
CH471070 Genomic DNA. Translation: EAW83764.1.
CH236950 Genomic DNA. Translation: EAL24088.1.
BC056162 mRNA. Translation: AAH56162.1.
AL359617 mRNA. Translation: CAB94886.1.
CCDSiCCDS5821.1. [Q9BYV8-1]
CCDS59078.1. [Q9BYV8-5]
CCDS59079.1. [Q9BYV8-2]
CCDS59080.1. [Q9BYV8-4]
PIRiT50634.
RefSeqiNP_001244087.1. NM_001257158.1. [Q9BYV8-2]
NP_001244088.1. NM_001257159.1. [Q9BYV8-5]
NP_001244089.1. NM_001257160.1. [Q9BYV8-4]
NP_061188.1. NM_018718.2. [Q9BYV8-1]
UniGeneiHs.368315.
Hs.732631.

Genome annotation databases

EnsembliENST00000223208; ENSP00000223208; ENSG00000106477. [Q9BYV8-1]
ENST00000343969; ENSP00000342738; ENSG00000106477. [Q9BYV8-2]
ENST00000489512; ENSP00000417815; ENSG00000106477. [Q9BYV8-4]
ENST00000541543; ENSP00000445888; ENSG00000106477. [Q9BYV8-5]
ENST00000616628; ENSP00000479252; ENSG00000106477. [Q9BYV8-4]
GeneIDi95681.
KEGGihsa:95681.
UCSCiuc003vpz.5. human. [Q9BYV8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF429308 mRNA. Translation: AAM43959.1.
AF429309 mRNA. Translation: AAM43960.1.
AJ278890 mRNA. Translation: CAC33567.1.
AY186739 mRNA. Translation: AAO31692.1.
AK026098 mRNA. Translation: BAB15359.1.
AK298618 mRNA. Translation: BAG60797.1.
AK314676 mRNA. Translation: BAG37230.1.
AC007938 Genomic DNA. No translation available.
CH471070 Genomic DNA. Translation: EAW83764.1.
CH236950 Genomic DNA. Translation: EAL24088.1.
BC056162 mRNA. Translation: AAH56162.1.
AL359617 mRNA. Translation: CAB94886.1.
CCDSiCCDS5821.1. [Q9BYV8-1]
CCDS59078.1. [Q9BYV8-5]
CCDS59079.1. [Q9BYV8-2]
CCDS59080.1. [Q9BYV8-4]
PIRiT50634.
RefSeqiNP_001244087.1. NM_001257158.1. [Q9BYV8-2]
NP_001244088.1. NM_001257159.1. [Q9BYV8-5]
NP_001244089.1. NM_001257160.1. [Q9BYV8-4]
NP_061188.1. NM_018718.2. [Q9BYV8-1]
UniGeneiHs.368315.
Hs.732631.

3D structure databases

ProteinModelPortaliQ9BYV8.
SMRiQ9BYV8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125173. 5 interactors.
IntActiQ9BYV8. 2 interactors.
STRINGi9606.ENSP00000223208.

PTM databases

iPTMnetiQ9BYV8.
PhosphoSitePlusiQ9BYV8.

Polymorphism and mutation databases

BioMutaiCEP41.
DMDMi56748870.

Proteomic databases

EPDiQ9BYV8.
MaxQBiQ9BYV8.
PaxDbiQ9BYV8.
PeptideAtlasiQ9BYV8.
PRIDEiQ9BYV8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000223208; ENSP00000223208; ENSG00000106477. [Q9BYV8-1]
ENST00000343969; ENSP00000342738; ENSG00000106477. [Q9BYV8-2]
ENST00000489512; ENSP00000417815; ENSG00000106477. [Q9BYV8-4]
ENST00000541543; ENSP00000445888; ENSG00000106477. [Q9BYV8-5]
ENST00000616628; ENSP00000479252; ENSG00000106477. [Q9BYV8-4]
GeneIDi95681.
KEGGihsa:95681.
UCSCiuc003vpz.5. human. [Q9BYV8-1]

Organism-specific databases

CTDi95681.
DisGeNETi95681.
GeneCardsiCEP41.
GeneReviewsiCEP41.
HGNCiHGNC:12370. CEP41.
HPAiHPA024090.
MalaCardsiCEP41.
MIMi610523. gene.
614464. phenotype.
neXtProtiNX_Q9BYV8.
OpenTargetsiENSG00000106477.
Orphaneti475. Joubert syndrome.
220493. Joubert syndrome with ocular defect.
PharmGKBiPA37039.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHZ1. Eukaryota.
ENOG410XRR4. LUCA.
GeneTreeiENSGT00390000002222.
HOGENOMiHOG000252966.
HOVERGENiHBG050896.
InParanoidiQ9BYV8.
KOiK16455.
OMAiKAEPNTK.
OrthoDBiEOG091G0NP4.
PhylomeDBiQ9BYV8.
TreeFamiTF324682.

Enzyme and pathway databases

ReactomeiR-HSA-2565942. Regulation of PLK1 Activity at G2/M Transition.
R-HSA-380259. Loss of Nlp from mitotic centrosomes.
R-HSA-380270. Recruitment of mitotic centrosome proteins and complexes.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.
R-HSA-8854518. AURKA Activation by TPX2.

Miscellaneous databases

GenomeRNAii95681.
PROiQ9BYV8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106477.
CleanExiHS_TSGA14.
ExpressionAtlasiQ9BYV8. baseline and differential.
GenevisibleiQ9BYV8. HS.

Family and domain databases

Gene3Di3.40.250.10. 1 hit.
InterProiIPR001763. Rhodanese-like_dom.
[Graphical view]
PfamiPF00581. Rhodanese. 1 hit.
[Graphical view]
SMARTiSM00450. RHOD. 1 hit.
[Graphical view]
SUPFAMiSSF52821. SSF52821. 1 hit.
PROSITEiPS50206. RHODANESE_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCEP41_HUMAN
AccessioniPrimary (citable) accession number: Q9BYV8
Secondary accession number(s): A4D1M0
, B4DQ35, F5H0V6, Q7Z496, Q86TM1, Q8NFU8, Q9H6A3, Q9NPV3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: June 1, 2001
Last modified: November 30, 2016
This is version 134 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.