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Aliases for CEP41 Gene

Aliases for CEP41 Gene

  • Centrosomal Protein 41 2 3
  • Centrosomal Protein 41kDa 2 3 5
  • Testis-Specific Gene A14 Protein 3 4
  • Testis Specific, 14 2 3
  • TSGA14 3 4
  • Testis Specific Protein A14 3
  • Centrosomal Protein 41 KDa 3
  • JBTS15 3
  • Cep41 4

External Ids for CEP41 Gene

Previous HGNC Symbols for CEP41 Gene

  • TSGA14

Previous GeneCards Identifiers for CEP41 Gene

  • GC07M130038

Summaries for CEP41 Gene

Entrez Gene Summary for CEP41 Gene

  • 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 been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

GeneCards Summary for CEP41 Gene

CEP41 (Centrosomal Protein 41) is a Protein Coding gene. Diseases associated with CEP41 include Joubert Syndrome 15 and Cep41-Related Joubert Syndrome. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance.

UniProtKB/Swiss-Prot for CEP41 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP41 Gene

Genomics for CEP41 Gene

Regulatory Elements for CEP41 Gene

Enhancers for CEP41 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CEP41 on UCSC Golden Path with GeneCards custom track

Promoters for CEP41 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CEP41 on UCSC Golden Path with GeneCards custom track

Genomic Location for CEP41 Gene

Chromosome:
7
Start:
130,393,771 bp from pter
End:
130,442,433 bp from pter
Size:
48,663 bases
Orientation:
Minus strand

Genomic View for CEP41 Gene

Genes around CEP41 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP41 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP41 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP41 Gene

Proteins for CEP41 Gene

  • Protein details for CEP41 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYV8-CEP41_HUMAN
    Recommended name:
    Centrosomal protein of 41 kDa
    Protein Accession:
    Q9BYV8
    Secondary Accessions:
    • A4D1M0
    • B4DQ35
    • F5H0V6
    • Q7Z496
    • Q86TM1
    • Q8NFU8
    • Q9H6A3
    • Q9NPV3

    Protein attributes for CEP41 Gene

    Size:
    373 amino acids
    Molecular mass:
    41368 Da
    Quaternary structure:
    • Found in a complex with TTLL6.

    Alternative splice isoforms for CEP41 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP41 Gene

Proteomics data for CEP41 Gene at MOPED

Post-translational modifications for CEP41 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for CEP41

No data available for DME Specific Peptides for CEP41 Gene

Domains & Families for CEP41 Gene

Protein Domains for CEP41 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP41 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BYV8

UniProtKB/Swiss-Prot:

CEP41_HUMAN :
  • Although it contains a rhodanese domain, does not display phosphatase activity, suggesting that the protein is enzymatically inactive.
  • Belongs to the CEP41 family.
Domain:
  • Although it contains a rhodanese domain, does not display phosphatase activity, suggesting that the protein is enzymatically inactive.
  • Contains 1 rhodanese domain.
Family:
  • Belongs to the CEP41 family.
genes like me logo Genes that share domains with CEP41: view

No data available for Gene Families for CEP41 Gene

Function for CEP41 Gene

Molecular function for CEP41 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with CEP41: view

Human Phenotype Ontology for CEP41 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CEP41 Gene

MGI Knock Outs for CEP41:

Animal Model Products

miRNA for CEP41 Gene

miRTarBase miRNAs that target CEP41

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for CEP41 Gene

Localization for CEP41 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP41 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes mainly to the cilium basal body and in primary cilia.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CEP41 Gene COMPARTMENTS Subcellular localization image for CEP41 gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for CEP41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005814 centriole IDA 22246503
GO:0005911 cell-cell junction IBA --
GO:0009986 cell surface IBA --
GO:0036064 ciliary basal body IDA 22246503
genes like me logo Genes that share ontologies with CEP41: view

Pathways & Interactions for CEP41 Gene

genes like me logo Genes that share pathways with CEP41: view

Interacting Proteins for CEP41 Gene

Gene Ontology (GO) - Biological Process for CEP41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0018095 protein polyglutamylation ISS --
genes like me logo Genes that share ontologies with CEP41: view

No data available for SIGNOR curated interactions for CEP41 Gene

Drugs & Compounds for CEP41 Gene

No Compound Related Data Available

Transcripts for CEP41 Gene

Unigene Clusters for CEP41 Gene

Centrosomal protein 41kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CEP41 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14 ^
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - -
SP6: - - - - - - - - - - - - - -
SP7: - - - - -
SP8: - -
SP9: - - - - - -
SP10: - - - - - - - - -
SP11: - - -
SP12: - - -
SP13:

ExUns: 15a · 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for CEP41 Gene

GeneLoc Exon Structure for
CEP41
ECgene alternative splicing isoforms for
CEP41

Expression for CEP41 Gene

mRNA expression in normal human tissues for CEP41 Gene

mRNA differential expression in normal tissues according to GTEx for CEP41 Gene

This gene is overexpressed in Testis (x5.5).

Protein differential expression in normal tissues from HIPED for CEP41 Gene

This gene is overexpressed in Adrenal (23.4) and Testis (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CEP41 Gene



SOURCE GeneReport for Unigene cluster for CEP41 Gene Hs.368315

mRNA Expression by UniProt/SwissProt for CEP41 Gene

Q9BYV8-CEP41_HUMAN
Tissue specificity: Isoform 1 and isoform 4 are expressed in testis and fetal tissues.
genes like me logo Genes that share expression patterns with CEP41: view

Protein tissue co-expression partners for CEP41 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CEP41 Gene

Orthologs for CEP41 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP41 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CEP41 35
  • 90.26 (n)
  • 91.69 (a)
CEP41 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP41 35
  • 89.1 (n)
  • 89.81 (a)
CEP41 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cep41 35
  • 85.7 (n)
  • 87.13 (a)
Cep41 16
Cep41 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TSGA14 35
  • 99.55 (n)
  • 99.73 (a)
TSGA14 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep41 35
  • 85.03 (n)
  • 84.92 (a)
oppossum
(Monodelphis domestica)
Mammalia CEP41 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP41 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP41 35
  • 70.03 (n)
  • 74.66 (a)
CEP41 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP41 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep41 35
  • 65.25 (n)
  • 67.14 (a)
Str.7415 35
zebrafish
(Danio rerio)
Actinopterygii cep41 35
  • 60.35 (n)
  • 60.44 (a)
Dr.18520 35
cep41 36
  • 57 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5177 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2236 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7265 36
  • 44 (a)
OneToOne
Species with no ortholog for CEP41:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP41 Gene

ENSEMBL:
Gene Tree for CEP41 (if available)
TreeFam:
Gene Tree for CEP41 (if available)

Paralogs for CEP41 Gene

No data available for Paralogs for CEP41 Gene

Variants for CEP41 Gene

Sequence variations from dbSNP and Humsavar for CEP41 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_067053 -
VAR_067054 -
rs140259402 - 130,402,686(+) TATCA(C/T)GCACA nc-transcript-variant, reference, missense
rs143303575 - 130,401,907(+) ATAAG(C/G)GTTCA nc-transcript-variant, reference, missense
rs113941736 - 130,400,746(+) CTCGC(A/C)CATGG nc-transcript-variant, reference, missense

Variation tolerance for CEP41 Gene

Residual Variation Intolerance Score: 67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.29; 40.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP41 Gene

Human Gene Mutation Database (HGMD)
CEP41

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CEP41 Gene

Disorders for CEP41 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CEP41 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CEP41 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CEP41_HUMAN
  • Joubert syndrome 15 (JBTS15) [MIM:614464]: An 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. {ECO:0000269 PubMed:22246503}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Genetic variations in CEP41 may be associated with susceptibility to autism (PubMed:21438139). {ECO:0000269 PubMed:21438139}.

Relevant External Links for CEP41

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP41
genes like me logo Genes that share disorders with CEP41: view

No data available for Genatlas for CEP41 Gene

Publications for CEP41 Gene

  1. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. (PMID: 22246503) Lee J.E. … Gleeson J.G. (Nat. Genet. 2012) 2 3 4 67
  2. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen J.S. … Mann M. (Nature 2003) 2 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3

Products for CEP41 Gene

Sources for CEP41 Gene

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