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Q9H082

- RB33B_HUMAN

UniProt

Q9H082 - RB33B_HUMAN

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
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    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. GTP binding Source: UniProtKB-KW

    GO - Biological processi

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

    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. Golgi membrane Source: UniProtKB-SubCell

    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

    Protein-protein interaction databases

    BioGridi123654. 7 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.
    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

    MAEEMESSLE ASFSSSGAVS GASGFLPPAR SRIFKIIVIG DSNVGKTCLT    50
    YRFCAGRFPD RTEATIGVDF RERAVEIDGE RIKIQLWDTA GQERFRKSMV 100
    QHYYRNVHAV VFVYDMTNMA SFHSLPSWIE ECKQHLLAND IPRILVGNKC 150
    DLRSAIQVPT DLAQKFADTH SMPLFETSAK NPNDNDHVEA IFMTLAHKLK 200
    SHKPLMLSQP PDNGIILKPE PKPAMTCWC 229
    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. 7 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.
    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

    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. "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. 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 1, 2014
    This is version 120 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