Q9H082 (RB33B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ras-related protein Rab-33B

Gene names

Name:

RAB33B

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	229 AA.
Sequence status	Complete.
Protein existence	Evidence 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 apparatus › cis-Golgi network Ref.6.
Involvement in disease	Smith-McCort dysplasia (SMC) [MIM:607326]: A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. SMC 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.

Ontologies

Keywords
Biological process	Autophagy Protein transport Transport
Cellular component	Golgi apparatus Membrane
Disease	Disease mutation Dwarfism
Ligand	GTP-binding Nucleotide-binding
PTM	Lipoprotein Methylation Prenylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	autophagy Inferred from electronic annotation. Source: UniProtKB-KW protein transport Inferred from electronic annotation. Source: UniProtKB-KW regulation of autophagic vacuole assembly Inferred from sequence or structural similarity. Source: UniProtKB regulation of retrograde vesicle-mediated transport, Golgi to ER Inferred from mutant phenotype Ref.7. Source: UniProtKB small GTPase mediated signal transduction Inferred from electronic annotation. Source: InterPro
Cellular_component	Golgi lumen Inferred from direct assay Ref.6. Source: UniProtKB Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	GTP binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 229	229	Ras-related protein Rab-33B		PRO_0000121239
Regions
	Nucleotide binding	39 – 46	8	GTP By similarity
	Nucleotide binding	88 – 92	5	GTP By similarity
	Nucleotide binding	148 – 151	4	GTP By similarity
Amino acid modifications
	Modified residue	229	1	Cysteine methyl ester By similarity
	Lipidation	227	1	S-geranylgeranyl cysteine By similarity
	Lipidation	229	1	S-geranylgeranyl cysteine By similarity
Natural variations
	Natural variant	46	1	K → Q in SMC. Ref.10		VAR_068854
	Natural variant	148	1	N → K in SMC. Ref.9		VAR_068855

Sequences

	Sequence		Length	Mass (Da)
	Q9H082 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 40D8B1A1D4C6CD85	FASTA	229	25,718
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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]	"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]	"A novel RAB33B mutation in Smith-McCort dysplasia." Dupuis N., Lebon S., Kumar M., Drunat S., Graul-Neumann L.M., Gressens P., Ghouzzi V.E. Hum. Mutat. 34:283-286(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SMC LYS-148.
[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 SMC GLN-46.

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.
IPI	IPI00021475.
RefSeq	NP_112586.1. NM_031296.1.
UniGene	Hs.591679.
3D structure databases
ProteinModelPortal	Q9H082.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H082. 1 interaction.
STRING	9606.ENSP00000306496.
PTM databases
PhosphoSite	Q9H082.
Polymorphism databases
DMDM	14916662.
Proteomic databases
PaxDb	Q9H082.
PeptideAtlas	Q9H082.
PRIDE	Q9H082.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000305626; ENSP00000306496; ENSG00000172007.
GeneID	83452.
KEGG	hsa:83452.
UCSC	uc003ihv.3. human.
Organism-specific databases
CTD	83452.
GeneCards	GC04P140374.
HGNC	HGNC:16075. RAB33B.
HPA	HPA048367.
MIM	605950. gene. 607326. phenotype.
neXtProt	NX_Q9H082.
PharmGKB	PA34125.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1100.
HOGENOM	HOG000233968.
HOVERGEN	HBG009351.
InParanoid	Q9H082.
KO	K07920.
OMA	PAWIEEC.
OrthoDB	EOG4KH2W0.
PhylomeDB	Q9H082.
Gene expression databases
Bgee	Q9H082.
CleanEx	HS_RAB33B.
Genevestigator	Q9H082.
GermOnline	ENSG00000172007. Homo sapiens.
Family and domain databases
InterPro	IPR005225. Small_GTP-bd_dom. IPR001806. Small_GTPase. IPR003579. Small_GTPase_Rab_type. [Graphical view]
Pfam	PF00071. Ras. 1 hit. [Graphical view]
PRINTS	PR00449. RASTRNSFRMNG.
SMART	SM00175. RAB. 1 hit. [Graphical view]
TIGRFAMs	TIGR00231. small_GTP. 1 hit.
PROSITE	PS51419. RAB. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	83452.
NextBio	72374.
SOURCE	Search...

Entry information

Entry name

RB33B_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 108 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.