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Protein

Rho-related BTB domain-containing protein 3

Gene

RHOBTB3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Rab9-regulated ATPase required for endosome to Golgi transport. Involved in transport vesicle docking at the Golgi complex, possibly by participating in release M6PRBP1/TIP47 from vesicles to permit their efficient docking and fusion at the Golgi. Specifically binds Rab9, but not other Rab proteins. Has low intrinsic ATPase activity due to autoinhibition, which is relieved by Rab9.1 Publication

Kineticsi

  1. KM=48 µM for ATP1 Publication

    GO - Molecular functioni

    • ATPase activity Source: UniProtKB
    • ATP binding Source: UniProtKB
    • GTPase activity Source: GO_Central
    • GTP binding Source: GO_Central
    • protein kinase binding Source: GO_Central
    • Rab GTPase binding Source: UniProtKB

    GO - Biological processi

    Keywordsi

    Molecular functionHydrolase
    Biological processTransport
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiR-HSA-6811440 Retrograde transport at the Trans-Golgi-Network

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Rho-related BTB domain-containing protein 3 (EC:3.6.1.-)
    Gene namesi
    Name:RHOBTB3
    Synonyms:KIAA0878
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 5

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000164292.12
    HGNCiHGNC:18757 RHOBTB3
    MIMi607353 gene
    neXtProtiNX_O94955

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Golgi apparatus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi138N → D: Abolishes ATP-binding. 1 Publication1
    Mutagenesisi498A → T: Abolishes interaction with RAB9A. 1 Publication1
    Mutagenesisi532D → E: Abolishes interaction with RAB9A. 1 Publication1
    Mutagenesisi533I → K: Abolishes interaction with RAB9A. 1 Publication1
    Mutagenesisi608 – 611Missing : Does not affect subcellular location, suggesting this protein is not prenylated. 1 Publication4

    Organism-specific databases

    DisGeNETi22836
    OpenTargetsiENSG00000164292
    PharmGKBiPA38679

    Polymorphism and mutation databases

    BioMutaiRHOBTB3

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00001989641 – 611Rho-related BTB domain-containing protein 3Add BLAST611

    Proteomic databases

    EPDiO94955
    MaxQBiO94955
    PaxDbiO94955
    PeptideAtlasiO94955
    PRIDEiO94955
    ProteomicsDBi50576

    PTM databases

    GlyConnecti1717
    iPTMnetiO94955
    PhosphoSitePlusiO94955

    Expressioni

    Tissue specificityi

    Ubiquitous. Highly expressed in neural and cardiac tissues, pancreas, placenta and testis.1 Publication

    Gene expression databases

    BgeeiENSG00000164292 Expressed in 238 organ(s), highest expression level in chorionic villus
    CleanExiHS_RHOBTB3
    ExpressionAtlasiO94955 baseline and differential
    GenevisibleiO94955 HS

    Organism-specific databases

    HPAiHPA000265

    Interactioni

    Subunit structurei

    Interacts with RAB9A and RAB9B (at lower level compared to RAB9A-binding). Interacts with M6PRBP1/TIP47.1 Publication

    Binary interactionsi

    GO - Molecular functioni

    Protein-protein interaction databases

    BioGridi116510, 43 interactors
    IntActiO94955, 14 interactors
    STRINGi9606.ENSP00000369318

    Structurei

    3D structure databases

    ProteinModelPortaliO94955
    SMRiO94955
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Domaini254 – 356BTB 1PROSITE-ProRule annotationAdd BLAST103
    Domaini420 – 487BTB 2PROSITE-ProRule annotationAdd BLAST68

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni1 – 175Rho-likeAdd BLAST175
    Regioni420 – 611Interaction with Rab9Add BLAST192

    Domaini

    Although predicted to be a GTP-binding protein because of the presence of a Rho-like region, binds and hydrolyzes ATP. In contrast to Rho-like proteins, the conserved Asp residue in position 138 in the G4 region is replaced by an Asn, decreasing the ability to bind GTP.

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiKOG0393 Eukaryota
    COG1100 LUCA
    GeneTreeiENSGT00850000132411
    HOGENOMiHOG000133048
    HOVERGENiHBG079130
    InParanoidiO94955
    KOiK07869
    OMAiHFIYSGA
    OrthoDBiEOG091G034E
    PhylomeDBiO94955
    TreeFamiTF323347

    Family and domain databases

    InterProiView protein in InterPro
    IPR000210 BTB/POZ_dom
    IPR027417 P-loop_NTPase
    IPR031260 RhoBTB3
    IPR011333 SKP1/BTB/POZ_sf
    IPR001806 Small_GTPase
    PANTHERiPTHR24072:SF139 PTHR24072:SF139, 1 hit
    PfamiView protein in Pfam
    PF00651 BTB, 2 hits
    PF00071 Ras, 1 hit
    SMARTiView protein in SMART
    SM00225 BTB, 2 hits
    SUPFAMiSSF52540 SSF52540, 1 hit
    SSF54695 SSF54695, 2 hits
    PROSITEiView protein in PROSITE
    PS50097 BTB, 2 hits

    Sequence (1+)i

    Sequence statusi: Complete.

    This entry has 1 described isoform and 9 potential isoforms that are computationally mapped.Show allAlign All

    O94955-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MSIHIVALGN EGDTFHQDNR PSGLIRTYLG RSPLVSGDES SLLLNAASTV
    60 70 80 90 100
    ARPVFTEYQA SAFGNVKLVV HDCPVWDIFD SDWYTSRNLI GGADIIVIKY
    110 120 130 140 150
    NVNDKFSFHE VKDNYIPVIK RALNSVPVII AAVGTRQNEE LPCTCPLCTS
    160 170 180 190 200
    DRGSCVSTTE GIQLAKELGA TYLELHSLDD FYIGKYFGGV LEYFMIQALN
    210 220 230 240 250
    QKTSEKMKKR KMSNSFHGIR PPQLEQPEKM PVLKAEASHY NSDLNNLLFC
    260 270 280 290 300
    CQCVDVVFYN PNLKKVVEAH KIVLCAVSHV FMLLFNVKSP TDIQDSSIIR
    310 320 330 340 350
    TTQDLFAINR DTAFPGASHE SSGNPPLRVI VKDALFCSCL SDILRFIYSG
    360 370 380 390 400
    AFQWEELEED IRKKLKDSGD VSNVIEKVKC ILKTPGKINC LRNCKTYQAR
    410 420 430 440 450
    KPLWFYNTSL KFFLNKPMLA DVVFEIQGTT VPAHRAILVA RCEVMAAMFN
    460 470 480 490 500
    GNYMEAKSVL IPVYGVSKET FLSFLEYLYT DSCCPAGIFQ AMCLLICAEM
    510 520 530 540 550
    YQVSRLQHIC ELFIITQLQS MPSRELASMN LDIVDLLKKA KFHHSDCLST
    560 570 580 590 600
    WLLHFIATNY LIFSQKPEFQ DLSVEERSFV EKHRWPSNMY LKQLAEYRKY
    610
    IHSRKCRCLV M
    Length:611
    Mass (Da):69,413
    Last modified:February 6, 2007 - v2
    Checksum:i430ED42327AF08B6
    GO

    Computationally mapped potential isoform sequencesi

    There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    D6R935D6R935_HUMAN
    Rho-related BTB domain-containing p...
    RHOBTB3
    180Annotation score:
    H0Y8R9H0Y8R9_HUMAN
    Rho-related BTB domain-containing p...
    RHOBTB3
    103Annotation score:
    D6RC79D6RC79_HUMAN
    Rho-related BTB domain-containing p...
    RHOBTB3
    242Annotation score:
    H0Y9R7H0Y9R7_HUMAN
    Rho-related BTB domain-containing p...
    RHOBTB3
    172Annotation score:
    D6RG10D6RG10_HUMAN
    Rho-related BTB domain-containing p...
    RHOBTB3
    104Annotation score:
    H0Y9A8H0Y9A8_HUMAN
    Rho-related BTB domain-containing p...
    RHOBTB3
    72Annotation score:
    H0YA85H0YA85_HUMAN
    Rho-related BTB domain-containing p...
    RHOBTB3
    117Annotation score:
    H0Y9P6H0Y9P6_HUMAN
    Rho-related BTB domain-containing p...
    RHOBTB3
    37Annotation score:
    H0Y9W9H0Y9W9_HUMAN
    Rho-related BTB domain-containing p...
    RHOBTB3
    76Annotation score:

    Sequence cautioni

    The sequence BAA74901 differs from that shown. Reason: Erroneous initiation.Curated

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_03049020R → Q1 PublicationCorresponds to variant dbSNP:rs17855649Ensembl.1
    Natural variantiVAR_01848121P → R. Corresponds to variant dbSNP:rs2302980Ensembl.1
    Natural variantiVAR_018482262N → D2 PublicationsCorresponds to variant dbSNP:rs34899Ensembl.1

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AB020685 mRNA Translation: BAA74901.2 Different initiation.
    AK290034 mRNA Translation: BAF82723.1
    BC020231 mRNA Translation: AAH20231.1
    BC041337 mRNA Translation: AAH41337.1
    CCDSiCCDS4077.1
    RefSeqiNP_055714.3, NM_014899.3
    UniGeneiHs.445030

    Genome annotation databases

    EnsembliENST00000379982; ENSP00000369318; ENSG00000164292
    GeneIDi22836
    KEGGihsa:22836
    UCSCiuc003klm.4 human

    Keywords - Coding sequence diversityi

    Polymorphism

    Similar proteinsi

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AB020685 mRNA Translation: BAA74901.2 Different initiation.
    AK290034 mRNA Translation: BAF82723.1
    BC020231 mRNA Translation: AAH20231.1
    BC041337 mRNA Translation: AAH41337.1
    CCDSiCCDS4077.1
    RefSeqiNP_055714.3, NM_014899.3
    UniGeneiHs.445030

    3D structure databases

    ProteinModelPortaliO94955
    SMRiO94955
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi116510, 43 interactors
    IntActiO94955, 14 interactors
    STRINGi9606.ENSP00000369318

    PTM databases

    GlyConnecti1717
    iPTMnetiO94955
    PhosphoSitePlusiO94955

    Polymorphism and mutation databases

    BioMutaiRHOBTB3

    Proteomic databases

    EPDiO94955
    MaxQBiO94955
    PaxDbiO94955
    PeptideAtlasiO94955
    PRIDEiO94955
    ProteomicsDBi50576

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000379982; ENSP00000369318; ENSG00000164292
    GeneIDi22836
    KEGGihsa:22836
    UCSCiuc003klm.4 human

    Organism-specific databases

    CTDi22836
    DisGeNETi22836
    EuPathDBiHostDB:ENSG00000164292.12
    GeneCardsiRHOBTB3
    H-InvDBiHIX0005046
    HGNCiHGNC:18757 RHOBTB3
    HPAiHPA000265
    MIMi607353 gene
    neXtProtiNX_O94955
    OpenTargetsiENSG00000164292
    PharmGKBiPA38679
    HUGEiSearch...
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG0393 Eukaryota
    COG1100 LUCA
    GeneTreeiENSGT00850000132411
    HOGENOMiHOG000133048
    HOVERGENiHBG079130
    InParanoidiO94955
    KOiK07869
    OMAiHFIYSGA
    OrthoDBiEOG091G034E
    PhylomeDBiO94955
    TreeFamiTF323347

    Enzyme and pathway databases

    ReactomeiR-HSA-6811440 Retrograde transport at the Trans-Golgi-Network

    Miscellaneous databases

    ChiTaRSiRHOBTB3 human
    GeneWikiiRHOBTB3
    GenomeRNAii22836
    PROiPR:O94955
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000164292 Expressed in 238 organ(s), highest expression level in chorionic villus
    CleanExiHS_RHOBTB3
    ExpressionAtlasiO94955 baseline and differential
    GenevisibleiO94955 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR000210 BTB/POZ_dom
    IPR027417 P-loop_NTPase
    IPR031260 RhoBTB3
    IPR011333 SKP1/BTB/POZ_sf
    IPR001806 Small_GTPase
    PANTHERiPTHR24072:SF139 PTHR24072:SF139, 1 hit
    PfamiView protein in Pfam
    PF00651 BTB, 2 hits
    PF00071 Ras, 1 hit
    SMARTiView protein in SMART
    SM00225 BTB, 2 hits
    SUPFAMiSSF52540 SSF52540, 1 hit
    SSF54695 SSF54695, 2 hits
    PROSITEiView protein in PROSITE
    PS50097 BTB, 2 hits
    ProtoNetiSearch...

    Entry informationi

    Entry nameiRHBT3_HUMAN
    AccessioniPrimary (citable) accession number: O94955
    Secondary accession number(s): A0PJA4, A8K1W9, Q8IW06
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2002
    Last sequence update: February 6, 2007
    Last modified: November 7, 2018
    This is version 149 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    2. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    3. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    4. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
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