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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCilium biogenesis/degradation, Protein transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-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-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-8854518 AURKA Activation by TPX2

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Centrosomal protein of 41 kDa
Short name:
Cep41
Alternative name(s):
Testis-specific gene A14 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CEP41
Synonyms:TSGA14
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000106477.18

Human Gene Nomenclature Database

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HGNCi
HGNC:12370 CEP41

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610523 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BYV8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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).1 Publication

Keywords - Diseasei

Autism, Autism spectrum disorder, Ciliopathy, Joubert syndrome

Organism-specific databases

DisGeNET

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DisGeNETi
95681

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
CEP41

MalaCards human disease database

More...
MalaCardsi
CEP41
MIMi614464 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000106477

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
475 Joubert syndrome
220493 Joubert syndrome with ocular defect

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37039

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CEP41

Domain mapping of disease mutations (DMDM)

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DMDMi
56748870

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000894891 – 373Centrosomal protein of 41 kDaAdd BLAST373

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei96PhosphoserineBy similarity1
Modified residuei99PhosphoserineBy similarity1
Modified residuei109PhosphothreonineBy similarity1
Modified residuei121PhosphoserineBy similarity1
Modified residuei343Omega-N-methylarginineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9BYV8

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9BYV8

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9BYV8

PeptideAtlas

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PeptideAtlasi
Q9BYV8

PRoteomics IDEntifications database

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PRIDEi
Q9BYV8

ProteomicsDB human proteome resource

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ProteomicsDBi
79721
79722 [Q9BYV8-2]
79723 [Q9BYV8-3]
79724 [Q9BYV8-4]
79725 [Q9BYV8-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BYV8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9BYV8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000106477 Expressed in 168 organ(s), highest expression level in right testis

CleanEx database of gene expression profiles

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CleanExi
HS_TSGA14

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9BYV8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9BYV8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA024090

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Found in a complex with TTLL6.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
125173, 10 interactors

Protein interaction database and analysis system

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IntActi
Q9BYV8, 4 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000223208

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9BYV8

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9BYV8

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini169 – 266RhodanesePROSITE-ProRule annotationAdd BLAST98

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CEP41 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IHZ1 Eukaryota
ENOG410XRR4 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000002222

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000252966

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG050896

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9BYV8

KEGG Orthology (KO)

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KOi
K16455

Identification of Orthologs from Complete Genome Data

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OMAi
CHIIGAY

Database of Orthologous Groups

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OrthoDBi
EOG091G0NP4

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9BYV8

TreeFam database of animal gene trees

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TreeFami
TF324682

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.250.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001763 Rhodanese-like_dom
IPR036873 Rhodanese-like_dom_sf

Pfam protein domain database

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Pfami
View protein in Pfam
PF00581 Rhodanese, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00450 RHOD, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52821 SSF52821, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50206 RHODANESE_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JXA0C9JXA0_HUMAN
Centrosomal protein of 41 kDa
CEP41
193Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J9X8C9J9X8_HUMAN
Centrosomal protein of 41 kDa
CEP41
161Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JCX6C9JCX6_HUMAN
Centrosomal protein of 41 kDa
CEP41
181Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WF85F8WF85_HUMAN
Centrosomal protein of 41 kDa
CEP41
125Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9IZ34C9IZ34_HUMAN
Centrosomal protein of 41 kDa
CEP41
65Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J6R3C9J6R3_HUMAN
Centrosomal protein of 41 kDa
CEP41
140Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WAV3F8WAV3_HUMAN
Centrosomal protein of 41 kDa
CEP41
69Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti170D → G in BAB15359 (PubMed:14702039).Curated1
Sequence conflicti279P → S in CAB94886 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 dbSNP:rs368178632EnsemblClinVar.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 dbSNP:rs140259402EnsemblClinVar.1
Natural variantiVAR_067056206P → A Found in a patient with autism; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143303575EnsemblClinVar.1
Natural variantiVAR_067057240C → G Found in a patient with autism; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs113941736EnsemblClinVar.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 dbSNP:rs371812716EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS5821.1 [Q9BYV8-1]
CCDS59078.1 [Q9BYV8-5]
CCDS59079.1 [Q9BYV8-2]
CCDS59080.1 [Q9BYV8-4]

Protein sequence database of the Protein Information Resource

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PIRi
T50634

NCBI Reference Sequences

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RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.368315
Hs.732631

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000223208; ENSP00000223208; ENSG00000106477 [Q9BYV8-1]
ENST00000343969; ENSP00000342738; ENSG00000106477 [Q9BYV8-2]
ENST00000489512; ENSP00000417815; ENSG00000106477 [Q9BYV8-4]
ENST00000541543; ENSP00000445888; ENSG00000106477 [Q9BYV8-5]
ENST00000616628; ENSP00000479252; ENSG00000106477 [Q9BYV8-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
95681

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:95681

UCSC genome browser

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UCSCi
uc003vpz.5 human [Q9BYV8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 10 interactors
IntActiQ9BYV8, 4 interactors
STRINGi9606.ENSP00000223208

PTM databases

iPTMnetiQ9BYV8
PhosphoSitePlusiQ9BYV8

Polymorphism and mutation databases

BioMutaiCEP41
DMDMi56748870

Proteomic databases

EPDiQ9BYV8
MaxQBiQ9BYV8
PaxDbiQ9BYV8
PeptideAtlasiQ9BYV8
PRIDEiQ9BYV8
ProteomicsDBi79721
79722 [Q9BYV8-2]
79723 [Q9BYV8-3]
79724 [Q9BYV8-4]
79725 [Q9BYV8-5]

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

Comparative Toxicogenomics Database

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CTDi
95681
DisGeNETi95681
EuPathDBiHostDB:ENSG00000106477.18

GeneCards: human genes, protein and diseases

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GeneCardsi
CEP41
GeneReviewsiCEP41
HGNCiHGNC:12370 CEP41
HPAiHPA024090
MalaCardsiCEP41
MIMi610523 gene
614464 phenotype
neXtProtiNX_Q9BYV8
OpenTargetsiENSG00000106477
Orphaneti475 Joubert syndrome
220493 Joubert syndrome with ocular defect
PharmGKBiPA37039

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHZ1 Eukaryota
ENOG410XRR4 LUCA
GeneTreeiENSGT00390000002222
HOGENOMiHOG000252966
HOVERGENiHBG050896
InParanoidiQ9BYV8
KOiK16455
OMAiCHIIGAY
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-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-8854518 AURKA Activation by TPX2

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
95681

Protein Ontology

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PROi
PR:Q9BYV8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000106477 Expressed in 168 organ(s), highest expression level in right testis
CleanExiHS_TSGA14
ExpressionAtlasiQ9BYV8 baseline and differential
GenevisibleiQ9BYV8 HS

Family and domain databases

Gene3Di3.40.250.10, 1 hit
InterProiView protein in InterPro
IPR001763 Rhodanese-like_dom
IPR036873 Rhodanese-like_dom_sf
PfamiView protein in Pfam
PF00581 Rhodanese, 1 hit
SMARTiView protein in SMART
SM00450 RHOD, 1 hit
SUPFAMiSSF52821 SSF52821, 1 hit
PROSITEiView protein in PROSITE
PS50206 RHODANESE_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCEP41_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BYV8
Secondary accession number(s): A4D1M0
, B4DQ35, F5H0V6, Q7Z496, Q86TM1, Q8NFU8, Q9H6A3, Q9NPV3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: June 1, 2001
Last modified: December 5, 2018
This is version 146 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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