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    CEP19 centrosomal protein 19 [ Homo sapiens (human) ]

    Gene ID: 84984, updated on 11-Jun-2021

    Summary

    Official Symbol
    CEP19provided by HGNC
    Official Full Name
    centrosomal protein 19provided by HGNC
    Primary source
    HGNC:HGNC:28209
    See related
    Ensembl:ENSG00000174007 MIM:615586
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MOSPGF; C3orf34
    Summary
    The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2. [provided by RefSeq, Apr 2014]
    Expression
    Broad expression in testis (RPKM 6.7), brain (RPKM 1.9) and 21 other tissues See more
    Orthologs
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    Genomic context

    See CEP19 in Genome Data Viewer
    Location:
    3q29
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (196706277..196712250, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (196433148..196439121, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1063 Neighboring gene negative regulator of reactive oxygen species Neighboring gene RNA, U6 small nuclear 646, pseudogene Neighboring gene phosphatidylinositol glycan anchor biosynthesis class X Neighboring gene RNA, U4 small nuclear 89, pseudogene Neighboring gene p21 (RAC1) activated kinase 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC14126

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
     
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in spindle pole IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    centrosomal protein of 19 kDa
    Names
    centrosomal protein 19kDa

    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.

    Genomic

    1. NG_034109.1 RefSeqGene

      Range
      5045..11018
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001379468.1NP_001366397.1  centrosomal protein of 19 kDa isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC055725
      Related
      ENSP00000382823.4, ENST00000399942.4
      Conserved Domains (1) summary
      pfam14933
      Location:9121
      CEP19; CEP19-like protein
    2. NM_001379469.1NP_001366398.1  centrosomal protein of 19 kDa isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: Variants 1, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      AC055725
      Conserved Domains (1) summary
      pfam14933
      Location:6156
      CEP19; CEP19-like protein
    3. NM_001379470.1NP_001366399.1  centrosomal protein of 19 kDa isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: Variants 1, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      AC055725
      Conserved Domains (1) summary
      pfam14933
      Location:6156
      CEP19; CEP19-like protein
    4. NM_032898.5NP_116287.3  centrosomal protein of 19 kDa isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: Variants 1, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      AC055725, AK058155, AK314070, BC007827
      Consensus CDS
      CCDS43193.2
      Related
      ENSP00000387209.4, ENST00000409690.5
      Conserved Domains (1) summary
      pfam14933
      Location:6156
      CEP19; CEP19-like protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      196706277..196712250 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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