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Aliases for CEP41 Gene

Aliases for CEP41 Gene

  • Centrosomal Protein 41kDa 2 3
  • TSGA14 3 4 6
  • Testis-Specific Gene A14 Protein 3 4
  • Testis Specific, 14 2 3
  • JBTS15 3 6
  • Centrosomal Protein Of 41 KDa 3
  • Testis Specific Protein A14 3
  • Centrosomal Protein 41 KDa 3
  • Cep41 4

External Ids for CEP41 Gene

Previous Symbols for CEP41 Gene

  • TSGA14

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 41kDa) is a Protein Coding gene. Diseases associated with CEP41 include joubert syndrome 15 and joubert syndrome with ocular anomalies. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic.

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

Genomic Location for CEP41 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CEP41 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP41 Gene

No data available for Regulatory Elements 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

No data available for DME Specific Peptides for CEP41 Gene

Domains for CEP41 Gene

Protein Domains for CEP41 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BYV8

UniProtKB/Swiss-Prot:

CEP41_HUMAN
Domain:
  • Although it contains a rhodanese domain, does not display phosphatase activity, suggesting that the protein is enzymatically inactive.:
    • Q9BYV8
  • Contains 1 rhodanese domain.:
    • Q9BYV8
Family:
  • Belongs to the CEP41 family.:
    • Q9BYV8
genes like me logo Genes that share domains with CEP41: view

No data available for Gene Families and Suggested Antigen Peptide Sequences 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

miRNA for CEP41 Gene

miRTarBase miRNAs that target CEP41

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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.

Gene Ontology (GO) - Cellular Components for CEP41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IDA 14654843
GO:0005814 centriole IDA 22246503
GO:0005829 cytosol TAS --
GO:0005929 cilium --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with CEP41: view

No data available for Subcellular locations from COMPARTMENTS for CEP41 Gene

Pathways 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:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0006996 organelle organization TAS --
GO:0015031 protein transport IEA --
GO:0018095 protein polyglutamylation ISS --
genes like me logo Genes that share ontologies with CEP41: view

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 (5.5).

Integrated Proteomics: protein expression 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 expressions 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 35
  • 99.55 (n)
  • 99.73 (a)
TSGA14 36
  • 100 (a)
OneToOne
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 36
  • 87 (a)
OneToOne
Tsga14 16
oppossum
(Monodelphis domestica)
Mammalia CEP41 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP41 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep41 35
  • 85.03 (n)
  • 84.92 (a)
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
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5177 35
zebrafish
(Danio rerio)
Actinopterygii cep41 35
  • 60.35 (n)
  • 60.44 (a)
cep41 36
  • 57 (a)
OneToOne
Dr.18520 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 MAF
rs1990790 -- 130,393,789(+) GTTTA(C/T)TGAAT utr-variant-3-prime, nc-transcript-variant
rs2058911 -- 130,411,640(+) TTCAT(C/T)TTTAA intron-variant
rs2287369 -- 130,416,532(+) TCTGA(A/G)GGAAG intron-variant
rs2287370 -- 130,421,737(+) AATTG(G/T)AAATT intron-variant, utr-variant-3-prime
rs2287371 -- 130,440,971(+) TATTT(G/T)CTCCA utr-variant-5-prime, nc-transcript-variant

Relevant External Links for CEP41 Gene

HapMap Linkage Disequilibrium report
CEP41
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

(1) OMIM Diseases for CEP41 Gene (610523)

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.
genes like me logo Genes that share disorders with CEP41: view

Publications for CEP41 Gene

  1. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen J.S. … Mann M. (Nature 2003) 2 3 4
  2. 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
  3. The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting. (PMID: 12034494) Yamada T. … Kishino T. (Gene 2002) 3 4
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  5. 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

Products for CEP41 Gene

Sources for CEP41 Gene

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