CEP19 centrosomal protein 19 [Homo sapiens (human)] - Gene

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; 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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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Phenotypes

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2977 (e-PCR)
- UniSTS:152096

RH103138 (e-PCR)
- UniSTS:97472

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

NG_034109.1 RefSeqGene

Range

5045..11018

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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