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    Cep41 centrosomal protein 41 [ Mus musculus (house mouse) ]

    Gene ID: 83922, updated on 27-Nov-2024

    Summary

    Official Symbol
    Cep41provided by MGI
    Official Full Name
    centrosomal protein 41provided by MGI
    Primary source
    MGI:MGI:1891414
    See related
    Ensembl:ENSMUSG00000029790 AllianceGenome:MGI:1891414
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Tsga14; 1700017E11Rik; 2810431D15Rik
    Summary
    This gene encodes a centrosomal protein which may be required for tubulin glutamylation in cilia during ciliogenesis. Mutations in a similar gene in human have been associated with Joubert Syndrome 15, an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
    Expression
    Broad expression in testis adult (RPKM 7.1), limb E14.5 (RPKM 6.9) and 21 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Cep41 in Genome Data Viewer
    Location:
    6 A3.3; 6 12.52 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (30653456..30710511, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (30653457..30710517, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene carboxypeptidase A5 Neighboring gene carboxypeptidase A1, pancreatic Neighboring gene predicted gene 13782 Neighboring gene STARR-positive B cell enhancer mm9_chr6:30643637-30643938 Neighboring gene STARR-seq mESC enhancer starr_15474 Neighboring gene mesoderm specific transcript Neighboring gene microRNA 335 Neighboring gene coatomer protein complex, subunit gamma 2 Neighboring gene coatomer protein complex, subunit gamma 2, opposite strand 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    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 cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    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 centriole ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    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 ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    centrosomal protein of 41 kDa
    Names
    testis specific gene A14

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_031998.3NP_114387.1  centrosomal protein of 41 kDa

      See identical proteins and their annotated locations for NP_114387.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AC155656, BC031892
      Consensus CDS
      CCDS19978.1
      UniProtKB/Swiss-Prot
      D3Z3U1, F7CSA6, Q3TTB5, Q8BT53, Q99NF3
      UniProtKB/TrEMBL
      H9KUZ8
      Related
      ENSMUSP00000031810.9, ENSMUST00000031810.15
      Conserved Domains (1) summary
      cd00158
      Location:170255
      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_130775.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC155656, AK019270, BY712226
      Related
      ENSMUST00000115130.3
    2. NR_130781.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the central region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC155656, AK166974, BC031892, BY736279
      Related
      ENSMUST00000140211.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      30653456..30710511 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006505209.5XP_006505272.1  centrosomal protein of 41 kDa isoform X4

      UniProtKB/TrEMBL
      H9KUZ8
      Conserved Domains (1) summary
      pfam00581
      Location:172241
      Rhodanese; Rhodanese-like domain
    2. XM_006505210.5XP_006505273.1  centrosomal protein of 41 kDa isoform X6

      Conserved Domains (1) summary
      cd00158
      Location:156241
      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. XM_006505207.5XP_006505270.1  centrosomal protein of 41 kDa isoform X1

      Conserved Domains (1) summary
      cd00158
      Location:172257
      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_030255682.2XP_030111542.1  centrosomal protein of 41 kDa isoform X5

      UniProtKB/TrEMBL
      H9KUZ8
      Conserved Domains (1) summary
      pfam00581
      Location:170239
      Rhodanese; Rhodanese-like domain
    5. XM_006505211.5XP_006505274.1  centrosomal protein of 41 kDa isoform X7

      Conserved Domains (1) summary
      cd00158
      Location:154239
      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 ...
    6. XM_006505208.5XP_006505271.1  centrosomal protein of 41 kDa isoform X2

      Conserved Domains (1) summary
      cd00158
      Location:168253
      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 ...
    7. XM_011241090.1XP_011239392.1  centrosomal protein of 41 kDa isoform X3

      Conserved Domains (1) summary
      cd00158
      Location:167252
      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 ...
    8. XM_006505213.5XP_006505276.1  centrosomal protein of 41 kDa isoform X8

      UniProtKB/TrEMBL
      Q3TUE7
      Conserved Domains (1) summary
      cd00158
      Location:130215
      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 ...