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CEP41 centrosomal protein 41 [ Homo sapiens (human) ]

Gene ID: 95681, updated on 27-Nov-2024

Summary

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Official Symbol
CEP41provided by HGNC
Official Full Name
centrosomal protein 41provided by HGNC
Primary source
HGNC:HGNC:12370
See related
Ensembl:ENSG00000106477 MIM:610523; AllianceGenome:HGNC:12370
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JBTS15; TSGA14
Summary
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]
Expression
Broad expression in testis (RPKM 5.8), salivary gland (RPKM 3.3) and 23 other tissues See more
Orthologs
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Genomic context

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See CEP41 in Genome Data Viewer
Location:
7q32.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (130393771..130441741, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (131707487..131755472, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (130033612..130080857, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene carboxypeptidase A5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:130005327-130005828 Neighboring gene uncharacterized LOC105375504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:130019942-130020463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26655 Neighboring gene carboxypeptidase A1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:130080543-130081297 Neighboring gene uncharacterized LOC105375505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26656 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:130126788-130127007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18646 Neighboring gene MEST intronic transcript 1, antisense RNA Neighboring gene mesoderm specific transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting. Yamada T, et al. Gene, 2002 Apr 17. PMID 12034494
  2. Mutations in the TSGA14 gene in families with autism spectrum disorders. Korvatska O, et al. Am J Med Genet B Neuropsychiatr Genet, 2011 Apr. PMID 21438139, Free PMC Article
  3. Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene. Patowary A, et al. Transl Psychiatry, 2019 Jan 15. PMID 30664616, Free PMC Article
  4. Methylation and expression analyses of the 7q autism susceptibility locus genes MEST , COPG2, and TSGA14 in human and anthropoid primate cortices. Schneider E, et al. Cytogenet Genome Res, 2012. PMID 22456293
  5. CEP41-mediated ciliary tubulin glutamylation drives angiogenesis through AURKA-dependent deciliation. Ki SM, et al. EMBO Rep, 2020 Feb 5. PMID 31885126, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CEP41-mediated ciliary tubulin glutamylation drives angiogenesis through AURKA-dependent deciliation.
    Title: CEP41-mediated ciliary tubulin glutamylation drives angiogenesis through AURKA-dependent deciliation.
  2. Missense variants in one gene, CEP41, associated significantly with Autism Spectrum Disorder (ASD). Homozygous gene-disrupting variants in CEP41 were initially found to be responsible for recessive Joubert syndrome.
    Title: Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.
  3. In cortices, the MEST promoter was hemimethylated, as expected for a differentially methylated imprinting control region, whereas the COPG2 and TSGA14 promoters were completely demethylated, typical for transcriptionally active non-imprinted genes.
    Title: Methylation and expression analyses of the 7q autism susceptibility locus genes MEST , COPG2, and TSGA14 in human and anthropoid primate cortices.
  4. The data identified CEP41 mutations as a cause of Joubert syndrome and implicated tubulin post-translational modification in the pathogenesis of human ciliary dysfunction.
    Title: CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
  5. Three rare potentially pathogenic variants were identified in the TSGA14 gene, which encodes a centrosomal protein.
    Title: Mutations in the TSGA14 gene in families with autism spectrum disorders.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Familial aplasia of the vermis
MedGen: C0431399 GeneReviews: Joubert Syndrome
Compare labs
Joubert syndrome 15
MedGen: C3280897 OMIM: 614464 GeneReviews: Joubert Syndrome
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp762H1311

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein polyglutamylation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 

General protein information

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Preferred Names
centrosomal protein of 41 kDa
Names
centrosomal protein 41 kDa
centrosomal protein 41kDa
testis specific protein A14
testis specific, 14
testis-specific gene A14 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032164.2 RefSeqGene

    Range
    5195..52440
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257158.2 → NP_001244087.1  centrosomal protein of 41 kDa isoform 2

    See identical proteins and their annotated locations for NP_001244087.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1, which results in a shorter isoform (2), compared to isoform 1.
    Source sequence(s)
    AC007938, BC018789, CB155730, DB069500
    Consensus CDS
    CCDS59079.1
    UniProtKB/TrEMBL
    A0A7I2PK71
    Related
    ENSP00000501735.1, ENST00000675596.1
    Conserved Domains (1) summary
    cd00158
    Location:170 → 253
    RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...

  2. NM_001257159.2 → NP_001244088.1  centrosomal protein of 41 kDa isoform 3

    See identical proteins and their annotated locations for NP_001244088.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1, which results in a shorter isoform (3), compared to isoform 1.
    Source sequence(s)
    AC007938, AK298618, BC018789, CB155730, DB069500
    Consensus CDS
    CCDS59078.1
    UniProtKB/TrEMBL
    A0A7I2PK71
    Related
    ENSP00000502478.1, ENST00000675962.1
    Conserved Domains (1) summary
    cd00158
    Location:154 → 237
    RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...

  3. NM_001257160.2 → NP_001244089.1  centrosomal protein of 41 kDa isoform 4

    See identical proteins and their annotated locations for NP_001244089.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks multiple exons in the 3' coding region and has a novel 3' terminus, compared to variant 1, which results in an isoform (4; also known as short (S) type) which has a severely truncated and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AF429309
    Consensus CDS
    CCDS59080.1
    UniProtKB/Swiss-Prot
    Q9BYV8
    Related
    ENSP00000417815.1, ENST00000489512.5

  4. NM_018718.3 → NP_061188.1  centrosomal protein of 41 kDa isoform 1

    See identical proteins and their annotated locations for NP_061188.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1; also known as long (L) type).
    Source sequence(s)
    AC007938, AF429308
    Consensus CDS
    CCDS5821.1
    UniProtKB/Swiss-Prot
    A4D1M0, B4DQ35, F5H0V6, Q7Z496, Q86TM1, Q8NFU8, Q9BYV8, Q9H6A3, Q9NPV3
    UniProtKB/TrEMBL
    A0A6Q8PFB1
    Related
    ENSP00000223208.4, ENST00000223208.10
    Conserved Domains (1) summary
    cd00158
    Location:170 → 255
    RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...

RNA

  1. NR_046443.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 3' coding region, compared to variant 1, which results in a frameshift and early stop codon. This transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC007938, AK311382, CB155730, DB069500

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    130393771..130441741 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421055.1 → XP_047277011.1  centrosomal protein of 41 kDa isoform X4

  2. XM_047421053.1 → XP_047277009.1  centrosomal protein of 41 kDa isoform X1

    UniProtKB/TrEMBL
    A0A6Q8PF12
    Related
    ENSP00000501597.1, ENST00000675138.1

  3. XM_011516709.4 → XP_011515011.1  centrosomal protein of 41 kDa isoform X3

    See identical proteins and their annotated locations for XP_011515011.1

    UniProtKB/TrEMBL
    A0A7I2SYM4
    Conserved Domains (1) summary
    cd00158
    Location:135 → 220
    RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...

  4. XM_047421054.1 → XP_047277010.1  centrosomal protein of 41 kDa isoform X3

  5. XM_024447004.2 → XP_024302772.1  centrosomal protein of 41 kDa isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PH03, A0A7I2SYM4
    Related
    ENSP00000502477.1, ENST00000675803.1
    Conserved Domains (1) summary
    cd00158
    Location:157 → 242
    RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    131707487..131755472 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359378.1 → XP_054215353.1  centrosomal protein of 41 kDa isoform X4

  2. XM_054359374.1 → XP_054215349.1  centrosomal protein of 41 kDa isoform X1

    UniProtKB/TrEMBL
    A0A6Q8PF12

  3. XM_054359377.1 → XP_054215352.1  centrosomal protein of 41 kDa isoform X3

  4. XM_054359376.1 → XP_054215351.1  centrosomal protein of 41 kDa isoform X3

  5. XM_054359375.1 → XP_054215350.1  centrosomal protein of 41 kDa isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PH03
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYV8.1 GenPept UniProtKB/Swiss-Prot:Q9BYV8

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