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CEP19 centrosomal protein 19 [ Homo sapiens (human) ]

Gene ID: 84984, updated on 13-Feb-2019

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

Genomic context

See CEP19 in Genome Data Viewer
Location:
3q29
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (196706273..196712294, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (196433144..196439131, 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 FunctionsWhat's a GeneRIF?

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
microtubule anchoring at centrosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
vesicle targeting, trans-Golgi to periciliary membrane compartment IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centriole IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    5001..11018
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032898.5NP_116287.3  centrosomal protein of 19 kDa

    Status: VALIDATED

    Source sequence(s)
    AC055725, AK058155, AK314070, BC007827
    Consensus CDS
    CCDS43193.2
    Related
    ENSP00000387209.3, ENST00000409690.3
    Conserved Domains (1) summary
    pfam14933
    Location:6156
    CEP19; CEP19-like protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    196706273..196712294 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513246.3XP_011511548.1  centrosomal protein of 19 kDa isoform X1

    See identical proteins and their annotated locations for XP_011511548.1

    UniProtKB/Swiss-Prot
    Q96LK0
    Conserved Domains (1) summary
    pfam14933
    Location:10160
    CEP19; CEP19-like protein
  2. XM_005269370.4XP_005269427.1  centrosomal protein of 19 kDa isoform X1

    See identical proteins and their annotated locations for XP_005269427.1

    UniProtKB/Swiss-Prot
    Q96LK0
    Conserved Domains (1) summary
    pfam14933
    Location:10160
    CEP19; CEP19-like protein
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