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Q9H082

- RB33B_HUMAN

UniProt

Q9H082 - RB33B_HUMAN

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Protein

Ras-related protein Rab-33B

Gene

RAB33B

Organism
Homo sapiens (Human)
Status
Reviewed - 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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi39 – 468GTPBy similarity
Nucleotide bindingi88 – 925GTPBy similarity
Nucleotide bindingi148 – 1514GTPBy similarity

GO - Molecular functioni

  1. GTPase activity Source: UniProtKB
  2. GTP binding Source: UniProtKB-KW

GO - Biological processi

  1. autophagy Source: UniProtKB-KW
  2. GTP catabolic process Source: UniProtKB
  3. protein transport Source: UniProtKB-KW
  4. regulation of autophagic vacuole assembly Source: UniProtKB
  5. regulation of retrograde vesicle-mediated transport, Golgi to ER Source: UniProtKB
  6. small GTPase mediated signal transduction Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Autophagy, Protein transport, Transport

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Ras-related protein Rab-33B
Gene namesi
Name:RAB33B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:16075. RAB33B.

Subcellular locationi

Golgi apparatus membrane By similarity; Lipid-anchor By similarity. Golgi apparatuscis-Golgi network 1 Publication

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. Golgi apparatus Source: LIFEdb
  3. Golgi lumen Source: UniProtKB
  4. membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Smith-McCort dysplasia 2 (SMC2) [MIM:615222]: A 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti46 – 461K → Q in SMC2. 1 Publication
VAR_068854
Natural varianti148 – 1481N → K in SMC2; strongly inhibits protein expression and may disrupt the Golgi apparatus structure. 1 Publication
VAR_068855

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

MIMi615222. phenotype.
Orphaneti178355. Smith-McCort dysplasia.
PharmGKBiPA34125.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 229229Ras-related protein Rab-33BPRO_0000121239Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi227 – 2271S-geranylgeranyl cysteineBy similarity
Modified residuei229 – 2291Cysteine methyl esterBy similarity
Lipidationi229 – 2291S-geranylgeranyl cysteineBy similarity

Keywords - PTMi

Lipoprotein, Methylation, Prenylation

Proteomic databases

MaxQBiQ9H082.
PaxDbiQ9H082.
PeptideAtlasiQ9H082.
PRIDEiQ9H082.

PTM databases

PhosphoSiteiQ9H082.

Expressioni

Gene expression databases

BgeeiQ9H082.
CleanExiHS_RAB33B.
GenevestigatoriQ9H082.

Organism-specific databases

HPAiHPA048367.

Interactioni

Subunit structurei

Interacts with ATG16L; the interaction is important for autophagosome formation By similarity. Interacts with RIC1 (via C-terminus domain); the interaction is direct with a preference for RAB33B-GTP. Interacts with RGP1.By similarity1 Publication

Protein-protein interaction databases

BioGridi123654. 9 interactions.
IntActiQ9H082. 1 interaction.
MINTiMINT-4723772.
STRINGi9606.ENSP00000306496.

Structurei

3D structure databases

ProteinModelPortaliQ9H082.
SMRiQ9H082. Positions 30-202.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the small GTPase superfamily. Rab family.Curated

Phylogenomic databases

eggNOGiCOG1100.
GeneTreeiENSGT00740000115017.
HOGENOMiHOG000233968.
HOVERGENiHBG009351.
InParanoidiQ9H082.
KOiK07920.
OMAiPAWIEEC.
OrthoDBiEOG78PVB5.
PhylomeDBiQ9H082.
TreeFamiTF300097.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR003579. Small_GTPase_Rab_type.
[Graphical view]
PfamiPF00071. Ras. 1 hit.
[Graphical view]
PRINTSiPR00449. RASTRNSFRMNG.
SMARTiSM00175. RAB. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51419. RAB. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti46 – 461K → Q in SMC2. 1 Publication
VAR_068854
Natural varianti148 – 1481N → K in SMC2; strongly inhibits protein expression and may disrupt the Golgi apparatus structure. 1 Publication
VAR_068855

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_031296.1.
UniGeneiHs.591679.

Genome annotation databases

EnsembliENST00000305626; ENSP00000306496; ENSG00000172007.
GeneIDi83452.
KEGGihsa:83452.
UCSCiuc003ihv.3. human.

Polymorphism databases

DMDMi14916662.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS3747.1.
RefSeqi NP_112586.1. NM_031296.1.
UniGenei Hs.591679.

3D structure databases

ProteinModelPortali Q9H082.
SMRi Q9H082. Positions 30-202.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123654. 9 interactions.
IntActi Q9H082. 1 interaction.
MINTi MINT-4723772.
STRINGi 9606.ENSP00000306496.

PTM databases

PhosphoSitei Q9H082.

Polymorphism databases

DMDMi 14916662.

Proteomic databases

MaxQBi Q9H082.
PaxDbi Q9H082.
PeptideAtlasi Q9H082.
PRIDEi Q9H082.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000305626 ; ENSP00000306496 ; ENSG00000172007 .
GeneIDi 83452.
KEGGi hsa:83452.
UCSCi uc003ihv.3. human.

Organism-specific databases

CTDi 83452.
GeneCardsi GC04P140374.
HGNCi HGNC:16075. RAB33B.
HPAi HPA048367.
MIMi 605950. gene.
615222. phenotype.
neXtProti NX_Q9H082.
Orphaneti 178355. Smith-McCort dysplasia.
PharmGKBi PA34125.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1100.
GeneTreei ENSGT00740000115017.
HOGENOMi HOG000233968.
HOVERGENi HBG009351.
InParanoidi Q9H082.
KOi K07920.
OMAi PAWIEEC.
OrthoDBi EOG78PVB5.
PhylomeDBi Q9H082.
TreeFami TF300097.

Miscellaneous databases

GeneWikii RAB33B.
GenomeRNAii 83452.
NextBioi 72374.
PROi Q9H082.
SOURCEi Search...

Gene expression databases

Bgeei Q9H082.
CleanExi HS_RAB33B.
Genevestigatori Q9H082.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR003579. Small_GTPase_Rab_type.
[Graphical view ]
Pfami PF00071. Ras. 1 hit.
[Graphical view ]
PRINTSi PR00449. RASTRNSFRMNG.
SMARTi SM00175. RAB. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
TIGRFAMsi TIGR00231. small_GTP. 1 hit.
PROSITEi PS51419. RAB. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of human RAB33B."
    Mao Y., Xie Y., Cheng H.
    Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Tongue.
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  6. "Golgi-resident small GTPase Rab33B interacts with Atg16L and modulates autophagosome formation."
    Itoh T., Fujita N., Kanno E., Yamamoto A., Yoshimori T., Fukuda M.
    Mol. Biol. Cell 19:2916-2925(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  7. "Rab33b and Rab6 are functionally overlapping regulators of Golgi homeostasis and trafficking."
    Starr T., Sun Y., Wilkins N., Storrie B.
    Traffic 11:626-636(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. "Ric1-Rgp1 complex is a guanine nucleotide exchange factor for the late Golgi Rab6A GTPase and an effector of the medial Golgi Rab33B GTPase."
    Pusapati G.V., Luchetti G., Pfeffer S.R.
    J. Biol. Chem. 287:42129-42137(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RGP1 AND RIC1.
  10. "Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus."
    Alshammari M.J., Al-Otaibi L., Alkuraya F.S.
    J. Med. Genet. 49:455-461(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SMC2 GLN-46.
  11. Cited for: VARIANT SMC2 LYS-148, CHARACTERIZATION OF VARIANT SMC2 LYS-148.

Entry informationi

Entry nameiRB33B_HUMAN
AccessioniPrimary (citable) accession number: Q9H082
Secondary accession number(s): B2R987, Q4W5B0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2001
Last sequence update: March 1, 2001
Last modified: October 29, 2014
This is version 121 of the entry and version 1 of the sequence. [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

External Data

Dasty 3