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 ... See more...

Aliases for CEP41 Gene

Aliases for CEP41 Gene

  • Centrosomal Protein 41 2 3 5
  • Testis-Specific Gene A14 Protein 3 4
  • Centrosomal Protein Of 41 KDa 3 4
  • Centrosomal Protein 41kDa 2 3
  • 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 Joubert Syndrome With Ocular Anomalies. Among its related pathways are Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. An important paralog of this gene is TSTD1.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for CEP41 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP41 Gene

Genomics for CEP41 Gene

GeneHancer (GH) Regulatory Elements for CEP41 Gene

Promoters and enhancers for CEP41 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEP41 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CEP41 Gene

Genomic Locations for CEP41 Gene
chr7:130,393,771-130,442,433
(GRCh38/hg38)
Size:
48,663 bases
Orientation:
Minus strand
chr7:130,033,612-130,082,274
(GRCh37/hg19)
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

Gene Families for CEP41 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CEP41 Gene

Suggested Antigen Peptide Sequences for CEP41 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ95527, Homo sapiens testis specific, 14 (TSGA14), mRNA (A4D1M0_HUMAN)
  • Testis-specific gene A14 protein (CEP41_HUMAN)

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.
Family:
  • Belongs to the CEP41 family.
genes like me logo Genes that share domains with CEP41: view

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.

Phenotypes From GWAS Catalog for CEP41 Gene

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 Models for CEP41 Gene

MGI Knock Outs for CEP41:
  • Cep41 Cep41<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for CEP41 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CEP41 Gene

Pathways & Interactions for CEP41 Gene

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

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:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0015031 protein transport IEA --
GO:0018095 protein polyglutamylation ISS --
GO:0030030 cell projection organization IEA --
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

CRISPR Products

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for CEP41 Gene

  • Nervous system(4.2)
  • Blood(4.1)
  • Eye(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP41 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • diaphragm
  • heart
  • lung
Abdomen:
  • biliary tract
  • kidney
  • liver
Pelvis:
  • penis
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
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 33 32
  • 99.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CEP41 33 32
  • 90.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CEP41 33 32
  • 89.1 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cep41 17 33 32
  • 85.7 (n)
rat
(Rattus norvegicus)
Mammalia Cep41 32
  • 85.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CEP41 33
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CEP41 33
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP41 33 32
  • 70.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP41 33
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep41 32
  • 65.25 (n)
Str.7415 32
zebrafish
(Danio rerio)
Actinopterygii cep41 33 32
  • 60.35 (n)
OneToOne
Dr.18520 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5177 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7265 33
  • 44 (a)
OneToOne
Cin.2236 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2236 32
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)
Aminode:
Evolutionary constrained regions (ECRs) for CEP41: view image

Paralogs for CEP41 Gene

Paralogs for CEP41 Gene

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

Variants for CEP41 Gene

Sequence variations from dbSNP and Humsavar for CEP41 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs10230435 likely-benign, Joubert syndrome 130,441,110(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs10230670 likely-benign, uncertain-significance, Joubert syndrome 130,441,144(-) G/A/T 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs111688621 uncertain-significance, Joubert syndrome 130,427,999(-) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs112007936 uncertain-significance, Joubert syndrome 130,395,617(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs113941736 benign, likely-benign, not specified, not provided, Joubert syndrome 15, - 130,400,746(-) A/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for CEP41 Gene

Human Gene Mutation Database (HGMD)
CEP41
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP41

SNP Genotyping and Copy Number Assay Products

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

Disorders for CEP41 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CEP41 Gene - From: HGMD, OMIM, ClinVar, GTR, 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}.

Additional Disease Information for 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 JE … Gleeson JG (Nature genetics 2012) 2 3 4 56
  2. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen JS … Mann M (Nature 2003) 2 3 4 56
  3. Mutations in the TSGA14 gene in families with autism spectrum disorders. (PMID: 21438139) Korvatska O … Raskind WH (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011) 3 4 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

Products for CEP41 Gene

Sources for CEP41 Gene