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Cep104 centrosomal protein 104 [ Mus musculus (house mouse) ]

Gene ID: 230967, updated on 3-Apr-2024

Summary

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Official Symbol
Cep104provided by MGI
Official Full Name
centrosomal protein 104provided by MGI
Primary source
MGI:MGI:2687282
See related
Ensembl:ENSMUSG00000039523 AllianceGenome:MGI:2687282
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Kiaa0562; mKIAA0562; A930027E11
Summary
Predicted to enable glutamate binding activity; glycine binding activity; and thienylcyclohexylpiperidine binding activity. Predicted to be located in centriole. Predicted to be active in cilium. Human ortholog(s) of this gene implicated in Joubert syndrome 25. Orthologous to human CEP104 (centrosomal protein 104). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 18.4), adrenal adult (RPKM 10.5) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
4 E2; 4 83.78 cM
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (154059649..154093189)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (153975126..154008732)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA A430005L14 gene Neighboring gene STARR-positive B cell enhancer ABC_E6293 Neighboring gene DNA fragmentation factor, beta subunit Neighboring gene predicted gene, 31566 Neighboring gene leucine rich repeat containing 47 Neighboring gene small integral membrane protein 1 Neighboring gene coiled-coil domain containing 27

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
  • 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. Mammalian splicing factor SF1 interacts with SURP domains of U2 snRNP-associated proteins. Crisci A, et al. Nucleic Acids Res, 2015 Dec 2. PMID 26420826, Free PMC Article
  2. A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies. Breslow DK, et al. Nat Genet, 2018 Mar. PMID 29459677, Free PMC Article
  3. Qualitative and quantitative analyses of protein phosphorylation in naive and stimulated mouse synaptosomal preparations. Munton RP, et al. Mol Cell Proteomics, 2007 Feb. PMID 17114649
  4. The antiobesity factor WDTC1 suppresses adipogenesis via the CRL4WDTC1 E3 ligase. Groh BS, et al. EMBO Rep, 2016 May. PMID 27113764, Free PMC Article
  5. Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Aug 31. PMID 14621295

See all (23) 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)
  • Endonuclease-mediated (4) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC54921

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables glutamate binding ISO
Inferred from Sequence Orthology
more info
  
enables glycine binding ISO
Inferred from Sequence Orthology
more info
  
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables thienylcyclohexylpiperidine binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in centriole ISO
Inferred from Sequence Orthology
more info
  
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
centrosomal protein of 104 kDa
Names
glycine-, glutamate-, thienylcyclohexylpiperidine-binding protein
likely ortholog of H. sapiens glycine-, glutamate-, thienylcyclohexylpiperidine-binding 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.

mRNA and Protein(s)

  1. NM_001419351.1 → NP_001406280.1  centrosomal protein of 104 kDa isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL806525

  2. NM_177673.3 → NP_808341.1  centrosomal protein of 104 kDa isoform 1

    See identical proteins and their annotated locations for NP_808341.1

    Status: VALIDATED

    Source sequence(s)
    AL806525
    Consensus CDS
    CCDS19005.1
    UniProtKB/Swiss-Prot
    B1AX97, Q6ZQ95, Q80V31
    UniProtKB/TrEMBL
    Q3UE03
    Related
    ENSMUSP00000040762.9, ENSMUST00000047497.15
    Conserved Domains (1) summary
    sd00044
    Location:431 → 468
    HEAT; HEAT repeat [structural motif]

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_000070.7 Reference GRCm39 C57BL/6J

    Range
    154059649..154093189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006538825.3 → XP_006538888.1  centrosomal protein of 104 kDa isoform X1

    UniProtKB/TrEMBL
    Q3UE03
    Conserved Domains (1) summary
    sd00044
    Location:431 → 468
    HEAT; HEAT repeat [structural motif]
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80V31.1 GenPept UniProtKB/Swiss-Prot:Q80V31

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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