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Aliases for CEP41 Gene

Aliases for CEP41 Gene

  • Centrosomal Protein 41 2 3 5
  • Testis-Specific Gene A14 Protein 3 4
  • Centrosomal Protein 41kDa 2 3
  • Testis Specific, 14 2 3
  • TSGA14 3 4
  • Centrosomal Protein Of 41 KDa 3
  • 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 Joubert Syndrome With Ocular Anomalies. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F130416 1.1 Ensembl ENCODE 11.5 +24.0 23980 3.8 HDGF BCOR ESRRA PKNOX1 ZBTB40 CHAMP1 ZNF664 FOXK2 NCOR1 NR2F6 CPA1 CEP41 MEST CPA4 CPA2 CPA5 GC07M130398 LOC105375505
GH07F130362 2 VISTA FANTOM5 Ensembl ENCODE 5 +73.4 73353 12.7 HDGF PKNOX1 ARNT MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 CPA5 CPA1 CPA2 MEST CDC26P1 KLHDC10 ENSG00000273329 CEP41 CPA4 TMEM209
GH07F130391 1.1 Ensembl ENCODE 8.4 +45.7 45670 10.1 RING1 CTCF TAL1 ZMYM3 RAD21 ZNF121 ZNF316 EED SMC3 TRIM24 MEST CPA4 ENSG00000273329 CPA5 ENSG00000270953 CEP41 GC07M130398 CPA1
GH07F130409 0.8 Ensembl ENCODE 10.7 +32.5 32469 1.6 ZNF362 PKNOX1 ZBTB2 HLF ZBTB11 PBX2 ZBTB17 CPA5 CPA1 MEST CEP41 CPA4 KLHDC10 CPA2 GC07M130398 LOC105375505
GH07F130440 1 ENCODE 8.2 +0.6 569 3.4 PKNOX1 ARID4B SIN3A FEZF1 GLI4 ETS1 ZNF121 GLIS2 ELK1 ZNF143 MEST CPA4 CEP41 LOC105375505 GC07M130398
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000634301 1533 1401 PKNOX1 ARID4B SIN3A FEZF1 ETS1 ZNF121 GLIS2 ELK1 ZNF143 FOS

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

Post-translational modifications for CEP41 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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.

Gene Ontology (GO) - Molecular Function for CEP41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22246503
genes like me logo Genes that share ontologies with CEP41: view
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 Model Products

miRNA for CEP41 Gene

miRTarBase miRNAs that target CEP41

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CEP41 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3

Gene Ontology (GO) - Cellular Components for CEP41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 14654843
GO:0005814 centriole IDA 22246503
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
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

Selected Interacting proteins: Q9BYV8-CEP41_HUMAN for CEP41 Gene via IID

Gene Ontology (GO) - Biological Process for CEP41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0016337 single organismal cell-cell adhesion IBA --
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

Transcripts for CEP41 Gene

Unigene Clusters for CEP41 Gene

Centrosomal protein 41kDa:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CEP41 Gene



Protein tissue co-expression partners for CEP41 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CEP41 Gene:

CEP41

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

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
chimpanzee
(Pan troglodytes)
Mammalia TSGA14 34 35
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia CEP41 34 35
  • 90.26 (n)
dog
(Canis familiaris)
Mammalia CEP41 34 35
  • 89.1 (n)
mouse
(Mus musculus)
Mammalia Cep41 34 16 35
  • 85.7 (n)
rat
(Rattus norvegicus)
Mammalia Cep41 34
  • 85.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CEP41 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CEP41 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP41 34 35
  • 70.03 (n)
lizard
(Anolis carolinensis)
Reptilia CEP41 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep41 34
  • 65.25 (n)
Str.7415 34
zebrafish
(Danio rerio)
Actinopterygii cep41 34 35
  • 60.35 (n)
Dr.18520 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5177 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7265 35
  • 44 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2236 34
Species where no ortholog for CEP41 was found in the sources mined by GeneCards:
  • 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
rs140259402 Pathogenic 130,402,686(+) TATCA(C/T)GCACA nc-transcript-variant, reference, missense
rs368178632 Pathogenic 130,416,957(+) TAGTC(A/G)TACTG intron-variant, nc-transcript-variant, reference, missense
rs371812716 Pathogenic 130,398,935(+) GGAGC(A/G)GGGGT nc-transcript-variant, reference, missense
rs371925259 Likely benign 130,402,817(+) AAGTA(G/T)GTCAG intron-variant
rs782460743 Likely benign 130,400,226(+) CCTTC(C/T)GGGAA intron-variant, nc-transcript-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for CEP41 Gene

Variant ID Type Subtype PubMed ID
nsv1115004 CNV deletion 24896259
nsv1122173 CNV deletion 24896259
nsv478859 CNV novel sequence insertion 20440878
nsv831130 CNV loss 17160897

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP41

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP41 Gene

Disorders for CEP41 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
joubert syndrome 15
  • jbts15
joubert syndrome with ocular anomalies
  • jbts3
cep41-related joubert syndrome
  • joubert syndrome 15
joubert syndrome 1
  • joubert syndrome
spinocerebellar ataxia 29, congenital nonprogressive
  • spinocerebellar ataxia 29
- 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 64
  2. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen J.S. … Mann M. (Nature 2003) 2 3 4 64
  3. Mutations in the TSGA14 gene in families with autism spectrum disorders. (PMID: 21438139) Korvatska O. … Raskind W.H. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2011) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for CEP41 Gene

Sources for CEP41 Gene

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