CEP19
entrez
84984
canonical
uniprot
Q96LK0
canonical
ensembl
ENSG00000174007
resolver
ensp
ENSP00000382823
resolver
ensp
ENSP00000387209
resolver
ensp
ENSP00000563342
resolver
ensp
ENSP00000563343
resolver
ensp
ENSP00000563344
resolver
ensp
ENSP00000563345
resolver
ensp
ENSP00000603659
resolver
ensp
ENSP00000603660
resolver
ensp
ENSP00000629597
resolver
ensp
ENSP00000629598
resolver
ensp
ENSP00000629599
resolver
ensp
ENSP00000629600
resolver
ensp
ENSP00000629601
resolver
enst
ENST00000399942
resolver
enst
ENST00000409690
resolver
enst
ENST00000893283
resolver
enst
ENST00000893284
resolver
enst
ENST00000893285
resolver
enst
ENST00000893286
resolver
enst
ENST00000933600
resolver
enst
ENST00000933601
resolver
enst
ENST00000959538
resolver
enst
ENST00000959539
resolver
enst
ENST00000959540
resolver
enst
ENST00000959541
resolver
enst
ENST00000959542
resolver
genesymbol
CEP19
resolver
genesymbol_syn
C3orf34
resolver
hgnc
HGNC:28209
resolver
uniprot
A8MX07
resolver
uniprot
B2RA74
resolver
uniprot
Q96I48
resolver
uniprot_entry
A8MX07_HUMAN
resolver
uniprot_entry
CEP19_HUMAN
resolver
uniprot_sec
B2RA74
resolver
uniprot_sec
Q96I48
resolver
amino_acid_sequence
MMCTAKKCGIRFQPPAIILIYESEIKGKIRQRIMPVRNFSKFSDCTRAAEQLKNNPRHKSYLEQVSLRQLEKLFSFLRGYLSGQSLAETMEQIQRETTIDPEEDLNKLDDKELAKRKSIMDELFEKNQKKKDDPNFVYDIEVEFPQDDQLQSCGWDTESADEF
uniprot
proteins
disease_involvement
DISEASE: Morbid obesity and spermatogenic failure (MOSPGF) [MIM:615703]: An 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. {ECO:0000269|PubMed:24268657}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for ciliation (PubMed:28428259, PubMed:28625565, 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:28428259, PubMed:28625565). 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). {ECO:0000269|PubMed:28428259, ECO:0000269|PubMed:28625565, ECO:0000269|PubMed:28659385}.
uniprot
proteins
mass_dalton
19166
uniprot
proteins
protein_family
CEP19 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
21399614
uniprot
proteins
pubmed
24268657
uniprot
proteins
pubmed
28428259
uniprot
proteins
pubmed
28625565
uniprot
proteins
pubmed
28659385
uniprot
proteins
sequence_length
163
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:21399614, ECO:0000269|PubMed:28428259, ECO:0000269|PubMed:28625565, ECO:0000269|PubMed:28659385}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:21399614}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:24268657, ECO:0000269|PubMed:28428259, ECO:0000269|PubMed:28625565, ECO:0000269|PubMed:28659385}. Note=Associates with the mother centriole in early interphase. Localizes to spindle poles during mitosis, and to distinct foci oriented towards the midbody at telophase (PubMed:21399614). Localizes slightly apical to the subdistal appendage on the mother centriole, but below the distal appendage (PubMed:28625565, PubMed:28659385). {ECO:0000269|PubMed:21399614, ECO:0000269|PubMed:28625565}.
uniprot
proteins