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Q96DA2

- RB39B_HUMAN

UniProt

Q96DA2 - RB39B_HUMAN

Protein

Ras-related protein Rab-39B

Gene

RAB39B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    May be involved in vesicular trafficking. Plays a role in synapse formation By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi15 – 228GTPBy similarity
    Nucleotide bindingi64 – 685GTPBy similarity
    Nucleotide bindingi123 – 1264GTPBy similarity

    GO - Molecular functioni

    1. GTP binding Source: UniProtKB-KW
    2. protein binding Source: IntAct

    GO - Biological processi

    1. protein transport Source: UniProtKB-KW
    2. small GTPase mediated signal transduction Source: InterPro
    3. synapse organization Source: UniProtKB
    4. vesicle-mediated transport Source: UniProtKB

    Keywords - Biological processi

    Protein transport, Transport

    Keywords - Ligandi

    GTP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ras-related protein Rab-39B
    Gene namesi
    Name:RAB39B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:16499. RAB39B.

    Subcellular locationi

    Cell membrane Curated; Lipid-anchor Curated; Cytoplasmic side Curated. Golgi apparatus 1 Publication
    Note: Partial colocalization with markers that cycle from the cell surface to the trans-Golgi network.By similarity

    GO - Cellular componenti

    1. Golgi apparatus Source: UniProtKB
    2. intracellular Source: LIFEdb
    3. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Mental retardation, X-linked 72 (MRX72) [MIM:300271]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional features.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Mental retardation

    Organism-specific databases

    MIMi300271. phenotype.
    Orphaneti777. X-linked non-syndromic intellectual disability.
    PharmGKBiPA34131.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 213213Ras-related protein Rab-39BPRO_0000121255Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Lipidationi211 – 2111S-geranylgeranyl cysteineBy similarity
    Modified residuei213 – 2131Cysteine methyl esterBy similarity
    Lipidationi213 – 2131S-geranylgeranyl cysteineBy similarity

    Keywords - PTMi

    Lipoprotein, Methylation, Prenylation

    Proteomic databases

    MaxQBiQ96DA2.
    PaxDbiQ96DA2.
    PeptideAtlasiQ96DA2.
    PRIDEiQ96DA2.

    PTM databases

    PhosphoSiteiQ96DA2.

    Expressioni

    Tissue specificityi

    Highly expressed in the brain.1 Publication

    Gene expression databases

    BgeeiQ96DA2.
    CleanExiHS_RAB39B.
    GenevestigatoriQ96DA2.

    Organism-specific databases

    HPAiHPA001114.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ZDHHC17Q8IUH53EBI-9089467,EBI-524753

    Protein-protein interaction databases

    BioGridi125507. 4 interactions.
    IntActiQ96DA2. 1 interaction.
    MINTiMINT-4724040.
    STRINGi9606.ENSP00000358466.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96DA2.
    SMRiQ96DA2. Positions 7-171.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi37 – 459Effector regionBy similarity

    Sequence similaritiesi

    Belongs to the small GTPase superfamily. Rab family.Curated

    Phylogenomic databases

    eggNOGiCOG1100.
    HOGENOMiHOG000233968.
    HOVERGENiHBG009351.
    InParanoidiQ96DA2.
    KOiK07925.
    OMAiTKSDRRC.
    OrthoDBiEOG7JHM6Q.
    PhylomeDBiQ96DA2.
    TreeFamiTF300032.

    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.

    Q96DA2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEAIWLYQFR LIVIGDSTVG KSCLIRRFTE GRFAQVSDPT VGVDFFSRLV    50
    EIEPGKRIKL QIWDTAGQER FRSITRAYYR NSVGGLLLFD ITNRRSFQNV 100
    HEWLEETKVH VQPYQIVFVL VGHKCDLDTQ RQVTRHEAEK LAAAYGMKYI 150
    ETSARDAINV EKAFTDLTRD IYELVKRGEI TIQEGWEGVK SGFVPNVVHS 200
    SEEVVKSERR CLC 213
    Length:213
    Mass (Da):24,622
    Last modified:December 1, 2001 - v1
    Checksum:i2B2C5B35C61FA88E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti57 – 571R → T in AAL12244. (PubMed:12438742)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY052478 mRNA. Translation: AAL12244.1.
    AL834460 mRNA. Translation: CAD39120.1.
    AL356738 Genomic DNA. Translation: CAI41468.1.
    BC009714 mRNA. Translation: AAH09714.1.
    CCDSiCCDS14766.1.
    RefSeqiNP_741995.1. NM_171998.3.
    UniGeneiHs.632832.

    Genome annotation databases

    EnsembliENST00000369454; ENSP00000358466; ENSG00000155961.
    GeneIDi116442.
    KEGGihsa:116442.
    UCSCiuc004fne.3. human.

    Polymorphism databases

    DMDMi27734447.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY052478 mRNA. Translation: AAL12244.1 .
    AL834460 mRNA. Translation: CAD39120.1 .
    AL356738 Genomic DNA. Translation: CAI41468.1 .
    BC009714 mRNA. Translation: AAH09714.1 .
    CCDSi CCDS14766.1.
    RefSeqi NP_741995.1. NM_171998.3.
    UniGenei Hs.632832.

    3D structure databases

    ProteinModelPortali Q96DA2.
    SMRi Q96DA2. Positions 7-171.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125507. 4 interactions.
    IntActi Q96DA2. 1 interaction.
    MINTi MINT-4724040.
    STRINGi 9606.ENSP00000358466.

    PTM databases

    PhosphoSitei Q96DA2.

    Polymorphism databases

    DMDMi 27734447.

    Proteomic databases

    MaxQBi Q96DA2.
    PaxDbi Q96DA2.
    PeptideAtlasi Q96DA2.
    PRIDEi Q96DA2.

    Protocols and materials databases

    DNASUi 116442.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000369454 ; ENSP00000358466 ; ENSG00000155961 .
    GeneIDi 116442.
    KEGGi hsa:116442.
    UCSCi uc004fne.3. human.

    Organism-specific databases

    CTDi 116442.
    GeneCardsi GC0XM154487.
    HGNCi HGNC:16499. RAB39B.
    HPAi HPA001114.
    MIMi 300271. phenotype.
    300774. gene.
    neXtProti NX_Q96DA2.
    Orphaneti 777. X-linked non-syndromic intellectual disability.
    PharmGKBi PA34131.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1100.
    HOGENOMi HOG000233968.
    HOVERGENi HBG009351.
    InParanoidi Q96DA2.
    KOi K07925.
    OMAi TKSDRRC.
    OrthoDBi EOG7JHM6Q.
    PhylomeDBi Q96DA2.
    TreeFami TF300032.

    Miscellaneous databases

    GeneWikii RAB39B.
    GenomeRNAii 116442.
    NextBioi 79915.
    PROi Q96DA2.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q96DA2.
    CleanExi HS_RAB39B.
    Genevestigatori Q96DA2.

    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. "Isolation and characterization of a human novel RAB (RAB39B) gene."
      Cheng H., Ma Y., Ni X., Jiang M., Guo L., Ying K., Xie Y., Mao Y.
      Cytogenet. Genome Res. 97:72-75(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Fetal brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    3. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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: Pancreas.
    5. Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN MRX72.

    Entry informationi

    Entry nameiRB39B_HUMAN
    AccessioniPrimary (citable) accession number: Q96DA2
    Secondary accession number(s): Q5JT79, Q8NEX3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 10, 2003
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 118 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 X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3