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    CEP19 centrosomal protein 19 [ Homo sapiens (human) ]

    Gene ID: 84984, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CEP19provided by HGNC
    Official Full Name
    centrosomal protein 19provided by HGNC
    Primary source
    HGNC:HGNC:28209
    See related
    Ensembl:ENSG00000174007 MIM:615586; AllianceGenome:HGNC:28209
    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
    mouse all
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    Genomic context

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    See CEP19 in Genome Data Viewer
    Location:
    3q29
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196706277..196712250, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (199425670..199431642, complement)
    RS_2024_09 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 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196359126-196359880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:196361941-196362478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15069 Neighboring gene long intergenic non-protein coding RNA 1063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21101 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:196374559-196375324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196377623-196378388 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196386545-196387120 Neighboring gene negative regulator of reactive oxygen species Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196392298-196392960 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196392961-196393623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196393624-196394285 Neighboring gene NANOG hESC enhancer GRCh37_chr3:196409910-196410411 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:196438871-196439183 Neighboring gene RNA, U6 small nuclear 646, pseudogene Neighboring gene phosphatidylinositol glycan anchor biosynthesis class X Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15072 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:196472201-196472700 Neighboring gene RNA, U4 small nuclear 89, pseudogene Neighboring gene p21 (RAC1) activated kinase 2

    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
    • 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. Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. Yıldız Bölükbaşı E, et al. J Med Genet, 2018 Mar. PMID 29127258
    2. Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice. Shalata A, et al. Am J Hum Genet, 2013 Dec 5. PMID 24268657, Free PMC Article
    3. CEP19 cooperates with FOP and CEP350 to drive early steps in the ciliogenesis programme. Mojarad BA, et al. Open Biol, 2017 Jun. PMID 28659385, Free PMC Article
    4. RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly. Nishijima Y, et al. Mol Biol Cell, 2017 Jun 15. PMID 28428259, Free PMC Article
    5. The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base. Kanie T, et al. Dev Cell, 2017 Jul 10. PMID 28625565, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CEP19 encodes a centrosomal and ciliary protein, as all BBS genes do. Another truncating mutation p.Arg82* has been reported as responsible for morbid obesity in a family; however, in the family we present, not all homozygotes are obese, although some are severely obese.
      Title: Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
    2. RABL2 binds to CEP19 and the IFT74-IFT81 heterodimer in a mutually exclusive manner.
      Title: RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly.
    3. CEP19 is recruited to the ciliary base by the centriolar CEP350/FOP complex and then specifically captures GTP-bound RABL2B, which is activated via its intrinsic nucleotide exchange.
      Title: The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base.
    4. loss of the ciliary protein CEP19 in humans and mice causes morbid obesity.
      Title: Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.
    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
    Obesity due to CEP19 deficiency
    MedGen: C3810324 OMIM: 615703 GeneReviews: Not available
    		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)

    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

    • MGC14126

    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in microtubule anchoring at centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in microtubule anchoring at centrosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle targeting, trans-Golgi to periciliary membrane compartment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle targeting, trans-Golgi to periciliary membrane compartment IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    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
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in spindle pole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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

    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_034109.1 RefSeqGene

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

    mRNA and Protein(s)

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

      Status: VALIDATED

      Source sequence(s)
      AC055725
      Consensus CDS
      CCDS93445.1
      UniProtKB/TrEMBL
      A8MX07
      Related
      ENSP00000382823.4, ENST00000399942.4
      Conserved Domains (1) summary
      pfam14933
      Location:9 → 121
      CEP19; CEP19-like protein

    2. NM_001379469.1 → NP_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
      Consensus CDS
      CCDS43193.3
      UniProtKB/Swiss-Prot
      B2RA74, Q96I48, Q96LK0
      Conserved Domains (1) summary
      pfam14933
      Location:6 → 156
      CEP19; CEP19-like protein

    3. NM_001379470.1 → NP_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
      Consensus CDS
      CCDS43193.3
      UniProtKB/Swiss-Prot
      B2RA74, Q96I48, Q96LK0
      Conserved Domains (1) summary
      pfam14933
      Location:6 → 156
      CEP19; CEP19-like protein

    4. NM_032898.5 → NP_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
      CCDS43193.3
      UniProtKB/Swiss-Prot
      B2RA74, Q96I48, Q96LK0
      Related
      ENSP00000387209.4, ENST00000409690.5
      Conserved Domains (1) summary
      pfam14933
      Location:6 → 156
      CEP19; CEP19-like protein

    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_000003.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      199425670..199431642 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LK0.2 GenPept UniProtKB/Swiss-Prot:Q96LK0

    Gene LinkOut

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