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

Gene ID: 83922, updated on 2-Nov-2024

Summary

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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
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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

Bibliography

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Related articles in PubMed

  1. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Lee JE, et al. Nat Genet, 2012 Jan 15. PMID 22246503, Free PMC Article
  2. Proteomic analysis of mammalian primary cilia. Ishikawa H, et al. Curr Biol, 2012 Mar 6. PMID 22326026, Free PMC Article
  3. Mit1/Lb9 and Copg2, new members of mouse imprinted genes closely linked to Peg1/Mest(1). Lee YJ, et al. FEBS Lett, 2000 Apr 28. PMID 10788617
  4. The ATG5 interactome links clathrin-mediated vesicular trafficking with the autophagosome assembly machinery. Baines K, et al. Autophagy Rep, 2022. PMID 35449600, Free PMC Article
  5. Phosphoproteomic analysis of the developing mouse brain. Ballif BA, et al. Mol Cell Proteomics, 2004 Nov. PMID 15345747

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

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

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

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

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

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.

mRNA and Protein(s)

  1. NM_031998.3 → NP_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: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_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_006505209.5 → XP_006505272.1  centrosomal protein of 41 kDa isoform X4

    UniProtKB/TrEMBL
    H9KUZ8
    Conserved Domains (1) summary
    pfam00581
    Location:172 → 241
    Rhodanese; Rhodanese-like domain

  2. XM_006505210.5 → XP_006505273.1  centrosomal protein of 41 kDa isoform X6

    Conserved Domains (1) summary
    cd00158
    Location:156 → 241
    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_006505207.5 → XP_006505270.1  centrosomal protein of 41 kDa isoform X1

    Conserved Domains (1) summary
    cd00158
    Location:172 → 257
    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_030255682.2 → XP_030111542.1  centrosomal protein of 41 kDa isoform X5

    UniProtKB/TrEMBL
    H9KUZ8
    Conserved Domains (1) summary
    pfam00581
    Location:170 → 239
    Rhodanese; Rhodanese-like domain

  5. XM_006505211.5 → XP_006505274.1  centrosomal protein of 41 kDa isoform X7

    Conserved Domains (1) summary
    cd00158
    Location:154 → 239
    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_006505208.5 → XP_006505271.1  centrosomal protein of 41 kDa isoform X2

    Conserved Domains (1) summary
    cd00158
    Location:168 → 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 ...

  7. XM_011241090.1 → XP_011239392.1  centrosomal protein of 41 kDa isoform X3

    Conserved Domains (1) summary
    cd00158
    Location:167 → 252
    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_006505213.5 → XP_006505276.1  centrosomal protein of 41 kDa isoform X8

    UniProtKB/TrEMBL
    Q3TUE7
    Conserved Domains (1) summary
    cd00158
    Location:130 → 215
    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 ...
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99NF3.1 GenPept UniProtKB/Swiss-Prot:Q99NF3

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