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Protein

Ras-related protein Rab-33B

Gene

RAB33B

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

Functioni

Protein transport. Acts, in coordination with RAB6A, to regulate intra-Golgi retrograde trafficking. It is involved in autophagy, acting as a modulator of autophagosome formation.1 Publication

Enzyme regulationi

Regulated by a guanine nucleotide-exchange factor (GEF) and a GTPase-activating protein (GAP) and alternates between an inactive GDP-bound and an active GTP-bound form. In vitro, SGSM2 acts as its GAP and inactivates it by stimulating its GTPase activity.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi39 – 46GTPBy similarity8
Nucleotide bindingi88 – 92GTPBy similarity5
Nucleotide bindingi148 – 151GTPBy similarity4

GO - Molecular functioni

  • GTPase activity Source: UniProtKB
  • GTP binding Source: UniProtKB-KW

GO - Biological processi

  • autophagosome assembly Source: Ensembl
  • intra-Golgi vesicle-mediated transport Source: UniProtKB
  • negative regulation of constitutive secretory pathway Source: UniProtKB
  • protein localization to Golgi apparatus Source: UniProtKB
  • protein transport Source: UniProtKB-KW
  • regulation of autophagosome assembly Source: GO_Central
  • regulation of Golgi organization Source: UniProtKB
  • regulation of retrograde vesicle-mediated transport, Golgi to ER Source: UniProtKB
  • skeletal system morphogenesis Source: UniProtKB

Keywordsi

Biological processAutophagy, Protein transport, Transport
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-6811438 Intra-Golgi traffic
R-HSA-8854214 TBC/RABGAPs
R-HSA-8873719 RAB geranylgeranylation
SIGNORiQ9H082

Names & Taxonomyi

Protein namesi
Recommended name:
Ras-related protein Rab-33B
Gene namesi
Name:RAB33B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000172007.5
HGNCiHGNC:16075 RAB33B
MIMi605950 gene
neXtProtiNX_Q9H082

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

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Smith-McCort dysplasia 2 (SMC2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest.
See also OMIM:615222
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06885446K → Q in SMC2. 1 PublicationCorresponds to variant dbSNP:rs587776958EnsemblClinVar.1
Natural variantiVAR_068855148N → K in SMC2; strongly inhibits protein expression and may disrupt the Golgi apparatus structure. 1 PublicationCorresponds to variant dbSNP:rs886044716EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi92Q → A: No loss of SGSM2-stimulated GTPase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi83452
MalaCardsiRAB33B
MIMi615222 phenotype
OpenTargetsiENSG00000172007
Orphaneti178355 Smith-McCort dysplasia
PharmGKBiPA34125

Polymorphism and mutation databases

BioMutaiRAB33B
DMDMi14916662

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001212391 – 229Ras-related protein Rab-33BAdd BLAST229

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi227S-geranylgeranyl cysteineBy similarity1
Modified residuei229Cysteine methyl esterBy similarity1
Lipidationi229S-geranylgeranyl cysteineBy similarity1

Keywords - PTMi

Lipoprotein, Methylation, Prenylation

Proteomic databases

EPDiQ9H082
MaxQBiQ9H082
PaxDbiQ9H082
PeptideAtlasiQ9H082
PRIDEiQ9H082

PTM databases

iPTMnetiQ9H082
PhosphoSitePlusiQ9H082

Expressioni

Gene expression databases

BgeeiENSG00000172007
CleanExiHS_RAB33B
GenevisibleiQ9H082 HS

Organism-specific databases

HPAiHPA048367

Interactioni

Subunit structurei

Interacts with ATG16L (PubMed:21808068). Interaction with ATG16L is important for autophagosome formation (By similarity). Interacts with RIC1 (via C-terminus domain); the interaction is direct with a preference for RAB33B-GTP (PubMed:23091056). Interacts with RGP1 (PubMed:23091056).By similarity2 Publications

Protein-protein interaction databases

BioGridi123654, 18 interactors
DIPiDIP-61978N
IntActiQ9H082, 3 interactors
MINTiQ9H082
STRINGi9606.ENSP00000306496

Structurei

3D structure databases

ProteinModelPortaliQ9H082
SMRiQ9H082
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the small GTPase superfamily. Rab family.Curated

Phylogenomic databases

eggNOGiKOG0084 Eukaryota
ENOG410XQN5 LUCA
GeneTreeiENSGT00900000140786
HOGENOMiHOG000233968
HOVERGENiHBG009351
InParanoidiQ9H082
KOiK07920
OMAiPAWIEEC
OrthoDBiEOG091G0FVM
PhylomeDBiQ9H082
TreeFamiTF300097

Family and domain databases

InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
PfamiView protein in Pfam
PF00071 Ras, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51419 RAB, 1 hit

Sequencei

Sequence statusi: Complete.

Q9H082-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAEEMESSLE ASFSSSGAVS GASGFLPPAR SRIFKIIVIG DSNVGKTCLT
60 70 80 90 100
YRFCAGRFPD RTEATIGVDF RERAVEIDGE RIKIQLWDTA GQERFRKSMV
110 120 130 140 150
QHYYRNVHAV VFVYDMTNMA SFHSLPSWIE ECKQHLLAND IPRILVGNKC
160 170 180 190 200
DLRSAIQVPT DLAQKFADTH SMPLFETSAK NPNDNDHVEA IFMTLAHKLK
210 220
SHKPLMLSQP PDNGIILKPE PKPAMTCWC
Length:229
Mass (Da):25,718
Last modified:March 1, 2001 - v1
Checksum:i40D8B1A1D4C6CD85
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06885446K → Q in SMC2. 1 PublicationCorresponds to variant dbSNP:rs587776958EnsemblClinVar.1
Natural variantiVAR_068855148N → K in SMC2; strongly inhibits protein expression and may disrupt the Golgi apparatus structure. 1 PublicationCorresponds to variant dbSNP:rs886044716EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF350420 mRNA Translation: AAL83916.1
AL136904 mRNA Translation: CAB66838.1
AK313685 mRNA Translation: BAG36434.1
AC114743 Genomic DNA Translation: AAY40936.1
BC111977 mRNA Translation: AAI11978.1
CCDSiCCDS3747.1
RefSeqiNP_112586.1, NM_031296.2
UniGeneiHs.591679

Genome annotation databases

EnsembliENST00000305626; ENSP00000306496; ENSG00000172007
GeneIDi83452
KEGGihsa:83452
UCSCiuc003ihv.4 human

Similar proteinsi

Entry informationi

Entry nameiRB33B_HUMAN
AccessioniPrimary (citable) accession number: Q9H082
Secondary accession number(s): B2R987, Q4W5B0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2001
Last sequence update: March 1, 2001
Last modified: May 23, 2018
This is version 155 of the entry and version 1 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

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