RAB34
entrez
83871
canonical
uniprot
P0DI83
canonical
uniprot
Q9BZG1
canonical
ensembl
ENSG00000109113
resolver
ensp
ENSP00000301043
resolver
ensp
ENSP00000378666
resolver
ensp
ENSP00000407953
resolver
ensp
ENSP00000410279
resolver
ensp
ENSP00000413156
resolver
ensp
ENSP00000487160
resolver
ensp
ENSP00000490450
resolver
ensp
ENSP00000562148
resolver
ensp
ENSP00000562149
resolver
ensp
ENSP00000562155
resolver
ensp
ENSP00000594502
resolver
ensp
ENSP00000594503
resolver
ensp
ENSP00000594505
resolver
ensp
ENSP00000594506
resolver
ensp
ENSP00000594507
resolver
ensp
ENSP00000594508
resolver
ensp
ENSP00000594517
resolver
ensp
ENSP00000594518
resolver
ensp
ENSP00000629090
resolver
enst
ENST00000453384
resolver
enst
ENST00000625712
resolver
enst
ENST00000636154
resolver
genesymbol
RAB34
resolver
genesymbol_syn
NARR
resolver
genesymbol_syn
RAB39
resolver
genesymbol_syn
RAH
resolver
hgnc
HGNC:16519
resolver
uniprot
A0A0D9SG59
resolver
uniprot
B4DNC0
resolver
uniprot
B4E3A0
resolver
uniprot
E7ES60
resolver
uniprot
E9PEJ9
resolver
uniprot
Q5BJE6
resolver
uniprot
Q8NCJ8
resolver
uniprot
Q96AR4
resolver
uniprot
Q96PJ7
resolver
uniprot_entry
A0A0D9SG59_HUMAN
resolver
uniprot_entry
B4DNC0_HUMAN
resolver
uniprot_entry
E7ES60_HUMAN
resolver
uniprot_entry
NARR_HUMAN
resolver
uniprot_entry
Q96PJ7_HUMAN
resolver
uniprot_entry
RAB34_HUMAN
resolver
uniprot_sec
B4E3A0
resolver
uniprot_sec
E9PEJ9
resolver
uniprot_sec
Q5BJE6
resolver
uniprot_sec
Q8NCJ8
resolver
uniprot_sec
Q96AR4
resolver
activity_regulation
ACTIVITY REGULATION: Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP. Regulated by GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity (Probable). Inhibited by GDP dissociation inhibitors (GDIs) (Probable). {ECO:0000305}.
uniprot
proteins
amino_acid_sequence
MNILAPVRRDRVLAELPQCLRKEAALHGHKDFHPRVTCACQEHRTGTVGFKISKVIVVGDLSVGKTCLINRFCKDTFDKNYKATIGVDFEMERFEVLGIPFSLQLWDTAGQERFKCIASTYYRGAQAIIIVFNLNDVASLEHTKQWLADALKENDPSSVLLFLVGSKKDLSTPAQYALMEKDALQVAQEMKAEYWAVSSLTGENVREFFFRVAALTFEANVLAELEKSGARRIGDVVRINSDDSNLYLTASKKKPTCCP
uniprot
proteins
amino_acid_sequence
MVGQPQPRDDVGSPRPRVIVGTIRPRVIVGTIRPRVIVGSARARPPPDGTPRPQLAAEESPRPRVIFGTPRARVILGSPRPRVIVSSPWPAVVVASPRPRTPVGSPWPRVVVGTPRPRVIVGSPRARVADADPASAPSQGALQGRRQDEHSGTRAEGSRPGGAAPVPEEGGRFARAQRLPPPRHLRLPGAPDRHRGQI
uniprot
proteins
disease_involvement
DISEASE: Orofaciodigital syndrome 20 (OFD20) [MIM:620718]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD20 is an autosomal recessive form characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones. {ECO:0000269|PubMed:37384395, ECO:0000269|PubMed:37619988}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.2
uniprot
proteins
function
FUNCTION: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). RAB34 transports protein involved in the redistribution of lysosomes to the peri-Golgi region (PubMed:27113757). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays a role in the fusion of phagosomes with lysosomes (PubMed:21255211). Involved in ciliogenesis (PubMed:37384395). In particular, it is required for early steps of the intracellular cilium assembly pathway initiated by trafficking and docking of ciliary vesicles to the centrioles in the cytoplasm, followed by axoneme formation in the cytoplasm. After axoneme elongation, the centrioles migrate close to the cell surface so that ciliary vesicles can fuse with the plasma membrane to expose cilia to the extracellular space (By similarity). It seems dispensable for ciliogenesis via the extracellular pathway where cilium assembly begins after migration and docking of the centriole to the plasma membrane (By similarity). Also acts as a positive regulator of hedgehog signaling and regulates ciliary function (By similarity). {ECO:0000250|UniProtKB:P20340, ECO:0000250|UniProtKB:Q64008, ECO:0000269|PubMed:21255211, ECO:0000269|PubMed:27113757, ECO:0000269|PubMed:37384395}.
uniprot
proteins
mass_dalton
21118
uniprot
proteins
mass_dalton
29044
uniprot
proteins
post_translational_modification
PTM: Phosphorylated during M-phase. {ECO:0000269|PubMed:21586586}.
uniprot
proteins
protein_family
Rab family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
14668488
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21255211
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21586586
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27113757
uniprot
proteins
pubmed
35871249
uniprot
proteins
pubmed
37384395
uniprot
proteins
pubmed
37619988
uniprot
proteins
sequence_length
198
uniprot
proteins
sequence_length
259
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q64008}. Golgi apparatus {ECO:0000250|UniProtKB:Q64008}. Cytoplasmic vesicle, phagosome {ECO:0000269|PubMed:21255211}. Cytoplasmic vesicle, phagosome membrane {ECO:0000269|PubMed:21255211}; Lipid-anchor {ECO:0000269|PubMed:21255211}; Cytoplasmic side {ECO:0000269|PubMed:21255211}. Cell projection, cilium {ECO:0000250|UniProtKB:Q64008}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q64008}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:37384395}. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis (PubMed:21255211). {ECO:0000269|PubMed:21255211}.
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21586586}. Nucleus, nucleolus {ECO:0000269|PubMed:21586586}. Note=Colocalizes with rDNA clusters.
uniprot
proteins