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Protein

Ras-related protein Rab-33B

Gene

RAB33B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 targeting to Golgi Source: UniProtKB
  • 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.

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:rs587776958Ensembl.1
Natural variantiVAR_068855148N → K in SMC2; strongly inhibits protein expression and may disrupt the Golgi apparatus structure. 1 Publication1

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.
MINTiMINT-4723772.
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:rs587776958Ensembl.1
Natural variantiVAR_068855148N → K in SMC2; strongly inhibits protein expression and may disrupt the Golgi apparatus structure. 1 Publication1

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: October 25, 2017
This is version 151 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

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families