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Q9H082 (RB33B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 118. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ras-related protein Rab-33B
Gene names
Name:RAB33B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length229 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.7

Subunit structure

Interacts with ATG16L; the interaction is important for autophagosome formation By similarity.

Subcellular location

Golgi apparatus membrane; Lipid-anchor By similarity. Golgi apparatuscis-Golgi network Ref.6.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10

Sequence similarities

Belongs to the small GTPase superfamily. Rab family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 229229Ras-related protein Rab-33B
PRO_0000121239

Regions

Nucleotide binding39 – 468GTP By similarity
Nucleotide binding88 – 925GTP By similarity
Nucleotide binding148 – 1514GTP By similarity

Amino acid modifications

Modified residue2291Cysteine methyl ester By similarity
Lipidation2271S-geranylgeranyl cysteine By similarity
Lipidation2291S-geranylgeranyl cysteine By similarity

Natural variations

Natural variant461K → Q in SMC2. Ref.9
VAR_068854
Natural variant1481N → K in SMC2; strongly inhibits protein expression and may disrupt the Golgi apparatus structure. Ref.10
VAR_068855

Sequences

Sequence LengthMass (Da)Tools
Q9H082 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 40D8B1A1D4C6CD85

FASTA22925,718
        10         20         30         40         50         60 
MAEEMESSLE ASFSSSGAVS GASGFLPPAR SRIFKIIVIG DSNVGKTCLT YRFCAGRFPD 

        70         80         90        100        110        120 
RTEATIGVDF RERAVEIDGE RIKIQLWDTA GQERFRKSMV QHYYRNVHAV VFVYDMTNMA 

       130        140        150        160        170        180 
SFHSLPSWIE ECKQHLLAND IPRILVGNKC DLRSAIQVPT DLAQKFADTH SMPLFETSAK 

       190        200        210        220 
NPNDNDHVEA IFMTLAHKLK SHKPLMLSQP PDNGIILKPE PKPAMTCWC 

« Hide

References

« Hide 'large scale' references
[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]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"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.
[10]"A novel RAB33B mutation in Smith-McCort dysplasia."
Dupuis N., Lebon S., Kumar M., Drunat S., Graul-Neumann L.M., Gressens P., El Ghouzzi V.
Hum. Mutat. 34:283-286(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SMC2 LYS-148, CHARACTERIZATION OF VARIANT SMC2 LYS-148.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS3747.1.
RefSeqNP_112586.1. NM_031296.1.
UniGeneHs.591679.

3D structure databases

ProteinModelPortalQ9H082.
SMRQ9H082. Positions 30-202.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123654. 7 interactions.
IntActQ9H082. 1 interaction.
MINTMINT-4723772.
STRING9606.ENSP00000306496.

PTM databases

PhosphoSiteQ9H082.

Polymorphism databases

DMDM14916662.

Proteomic databases

MaxQBQ9H082.
PaxDbQ9H082.
PeptideAtlasQ9H082.
PRIDEQ9H082.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000305626; ENSP00000306496; ENSG00000172007.
GeneID83452.
KEGGhsa:83452.
UCSCuc003ihv.3. human.

Organism-specific databases

CTD83452.
GeneCardsGC04P140374.
HGNCHGNC:16075. RAB33B.
HPAHPA048367.
MIM605950. gene.
615222. phenotype.
neXtProtNX_Q9H082.
Orphanet178355. Smith-McCort dysplasia.
PharmGKBPA34125.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1100.
HOGENOMHOG000233968.
HOVERGENHBG009351.
InParanoidQ9H082.
KOK07920.
OMAPAWIEEC.
OrthoDBEOG78PVB5.
PhylomeDBQ9H082.
TreeFamTF300097.

Gene expression databases

BgeeQ9H082.
CleanExHS_RAB33B.
GenevestigatorQ9H082.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR003579. Small_GTPase_Rab_type.
[Graphical view]
PfamPF00071. Ras. 1 hit.
[Graphical view]
PRINTSPR00449. RASTRNSFRMNG.
SMARTSM00175. RAB. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
TIGRFAMsTIGR00231. small_GTP. 1 hit.
PROSITEPS51419. RAB. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiRAB33B.
GenomeRNAi83452.
NextBio72374.
PROQ9H082.
SOURCESearch...

Entry information

Entry nameRB33B_HUMAN
AccessionPrimary (citable) accession number: Q9H082
Secondary accession number(s): B2R987, Q4W5B0
Entry history
Integrated into UniProtKB/Swiss-Prot: July 11, 2001
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM