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Protein

Centrosomal protein of 19 kDa

Gene

CEP19

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Keywordsi

Biological processCilium biogenesis/degradation

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.

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.

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. 128 interactors.
MINTiMINT-1481099.
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. 1 hit.
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: September 27, 2017
This is version 102 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

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

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