RABL3
entrez
285282
canonical
uniprot
Q5HYI8
canonical
ensembl
ENSG00000144840
resolver
ensp
ENSP00000273375
resolver
ensp
ENSP00000419986
resolver
ensp
ENSP00000550110
resolver
enst
ENST00000273375
resolver
enst
ENST00000483733
resolver
genesymbol
RABL3
resolver
hgnc
HGNC:18072
resolver
uniprot
C9JXM3
resolver
uniprot
Q8WUD3
resolver
uniprot_entry
C9JXM3_HUMAN
resolver
uniprot_entry
RABL3_HUMAN
resolver
uniprot_sec
Q8WUD3
resolver
amino_acid_sequence
MASLDRVKVLVLGDSGVGKSSLVHLLCQNQVLGNPSWTVGCSVDVRVHDYKEGTPEEKTYYIELWDVGGSVGSASSVKSTRAVFYNSVNGIIFVHDLTNKKSSQNLRRWSLEALNRDLVPTGVLVTNGDYDQEQFADNQIPLLVIGTKLDQIHETKRHEVLTRTAFLAEDFNPEEINLDCTNPRYLAAGSSNAVKLSRFFDKVIEKRYFLREGNQIPGFPDRKRFGAGTLKSLHYD
uniprot
proteins
disease_involvement
DISEASE: Pancreatic cancer 5 (PNCA5) [MIM:618680]: A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. {ECO:0000269|PubMed:31406347}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. RABL3 variants have been found in families with a history of pancreatic ductal adenocarcinoma and multiple other occurrences of cancer, including melanoma, breast cancer, prostate cancer, and colon cancer. {ECO:0000269|PubMed:31406347}.
uniprot
proteins
ec_number
3.6.5.2
uniprot
proteins
function
FUNCTION: Small GTPase required for KRAS signaling regulation and modulation of cell proliferation (PubMed:31406347). Regulator of KRAS prenylation, and probably prenylation of other small GTPases (PubMed:31406347). Required for lymphocyte development and function (By similarity). Not required for myeloid cell development (By similarity). Interacts with Rab11 to promote ciliary vesicle formation at the mother centriole, thereby regulating early ciliogenesis. The GTP-binding capacity of RABL3 is essential for ciliogenesis (PubMed:36052645). {ECO:0000250|UniProtKB:Q9D4V7, ECO:0000269|PubMed:31406347, ECO:0000269|PubMed:36052645}.
uniprot
proteins
mass_dalton
26423
uniprot
proteins
mutagenesis
MUTAGEN 20; /note="S->N: Dominant-negative mutant (GDP-bound form). Increased interaction with GTP-bound RAB11A. Increased recruitment to the centrosome. Impaired positive regulation of ciliary vesicle formation."; /evidence="ECO:0000269|PubMed:36052645
uniprot
proteins
protein_family
Rab family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31406347
uniprot
proteins
pubmed
36052645
uniprot
proteins
sequence_length
236
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:36052645}. Golgi apparatus {ECO:0000269|PubMed:36052645}. Note=Accumulates around the centrosome during early ciliogenesis. {ECO:0000269|PubMed:36052645}.
uniprot
proteins