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CEP19 centrosomal protein 19 [ Homo sapiens (human) ]

Gene ID: 84984, updated on 5-Mar-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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Location:
3q29
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196706277..196712250, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (199425670..199431642, complement)
105.20220307 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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

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