Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Centrosomal protein of 19 kDa

Gene

CEP19

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Required for ciliation (PubMed:28625565, PubMed:28428259, PubMed:28659385). Recruits the RABL2B GTPase to the ciliary base to initiate ciliation. After specifically capturing the activated GTP-bound RABL2B, the CEP19-RABL2B complex binds intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia (PubMed:28625565, PubMed:28428259). Involved in the early steps in cilia formation by recruiting the ciliary vesicles (CVs) to the distal end of the mother centriole where they fuse to initiate cilium assembly. Involved in microtubule (MT) anchoring to the centrosomes (PubMed:28659385).3 Publications

Caution

The region that interacts with FGFR1OP is conflicting: According to a report, interacts via N-terminus (PubMed:28428259). According to another report, interacts via C-terminus (PubMed:28659385).2 Publications

GO - Biological processi

  • cilium assembly Source: UniProtKB
  • microtubule anchoring at centrosome Source: UniProtKB
  • vesicle targeting, trans-Golgi to periciliary membrane compartment Source: UniProtKB

Keywordsi

Biological processCilium biogenesis/degradation

Protein family/group databases

MoonDBiQ96LK0 Predicted

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 19 kDa
Short name:
Cep19
Gene namesi
Name:CEP19
Synonyms:C3orf34
ORF Names:HSD5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000174007.7
HGNCiHGNC:28209 CEP19
MIMi615586 gene
neXtProtiNX_Q96LK0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Morbid obesity and spermatogenic failure (MOSPGF)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40.
See also OMIM:615703

Keywords - Diseasei

Obesity

Organism-specific databases

DisGeNETi84984
MalaCardsiCEP19
MIMi615703 phenotype
Orphaneti397615 Obesity due to CEP19 deficiency
PharmGKBiPA142672395

Polymorphism and mutation databases

BioMutaiCEP19
DMDMi115503728

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002519601 – 163Centrosomal protein of 19 kDaAdd BLAST163

Proteomic databases

PaxDbiQ96LK0
PeptideAtlasiQ96LK0
PRIDEiQ96LK0
ProteomicsDBi77216

PTM databases

PhosphoSitePlusiQ96LK0

Expressioni

Gene expression databases

BgeeiENSG00000174007
CleanExiHS_C3orf34
ExpressionAtlasiQ96LK0 baseline and differential
GenevisibleiQ96LK0 HS

Organism-specific databases

HPAiHPA047614
HPA071138

Interactioni

Subunit structurei

Interacts with FGFR1OP; this interaction is required for its localization to the mother centriole (PubMed:28625565, PubMed:28428259, PubMed:28659385). Interacts (via residues 121-150) with RABL2B (PubMed:28625565, PubMed:28428259). Interacts (via C-terminus) with CEP350; this interaction is required for its localization to the mother centriole (PubMed:28659385).3 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi124410, 107 interactors
IntActiQ96LK0, 141 interactors
STRINGi9606.ENSP00000387209

Structurei

3D structure databases

ProteinModelPortaliQ96LK0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CEP19 family.Curated

Phylogenomic databases

eggNOGiENOG410IWEE Eukaryota
ENOG4111MS1 LUCA
HOVERGENiHBG081009
InParanoidiQ96LK0
KOiK16801
OrthoDBiEOG091G0WDG
PhylomeDBiQ96LK0
TreeFamiTF328425

Family and domain databases

InterProiView protein in InterPro
IPR029412 CEP19
PANTHERiPTHR31539 PTHR31539, 2 hits
PfamiView protein in Pfam
PF14933 CEP19, 1 hit

Sequencei

Sequence statusi: Complete.

Q96LK0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MMCTAKKCGI RFQPPAIILI YESEIKGKIR QRIMPVRNFS KFSDCTRAAE
60 70 80 90 100
QLKNNPRHKS YLEQVSLRQL EKLFSFLRGY LSGQSLAETM EQIQRETTID
110 120 130 140 150
PEEDLNKLDD KELAKRKSIM DELFEKNQKK KDDPNFVYDI EVEFPQDDQL
160
QSCGWDTESA DEF
Length:163
Mass (Da):19,166
Last modified:October 3, 2006 - v2
Checksum:iD5F65C3C0A1B1AD7
GO

Sequence cautioni

The sequence AAM47487 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB71691 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY099509 mRNA Translation: AAM47487.1 Different initiation.
AK058155 mRNA Translation: BAB71691.1 Different initiation.
AK314070 mRNA Translation: BAG36771.1
AC055725 Genomic DNA No translation available.
BC007827 mRNA Translation: AAH07827.1
RefSeqiNP_116287.2, NM_032898.4
XP_005269427.1, XM_005269370.4
XP_011511548.1, XM_011513246.2
UniGeneiHs.282800

Genome annotation databases

EnsembliENST00000409690; ENSP00000387209; ENSG00000174007
GeneIDi84984
KEGGihsa:84984
UCSCiuc011btw.3 human

Similar proteinsi

Entry informationi

Entry nameiCEP19_HUMAN
AccessioniPrimary (citable) accession number: Q96LK0
Secondary accession number(s): B2RA74, Q96I48
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: July 18, 2018
This is version 106 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health