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    CEP41 centrosomal protein 41 [ Homo sapiens (human) ]

    Gene ID: 95681, updated on 28-Oct-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
    mouse all
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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 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)

    Genotypes

    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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