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Protein

Rho-related BTB domain-containing protein 3

Gene

RHOBTB3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
    • Rab GTPase binding Source: UniProtKB

    GO - Biological processi

    • retrograde transport, endosome to Golgi Source: UniProtKB
    • small GTPase mediated signal transduction Source: InterPro
    Complete GO annotation...

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    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

    HGNCiHGNC:18757. RHOBTB3.

    Subcellular locationi

    • Golgi apparatus 1 Publication

    GO - Cellular componenti

    • extracellular exosome Source: UniProtKB
    • Golgi apparatus Source: UniProtKB-SubCell
    Complete GO annotation...

    Keywords - Cellular componenti

    Golgi apparatus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi138 – 1381N → D: Abolishes ATP-binding. 1 Publication
    Mutagenesisi498 – 4981A → T: Abolishes interaction with RAB9A. 1 Publication
    Mutagenesisi532 – 5321D → E: Abolishes interaction with RAB9A. 1 Publication
    Mutagenesisi533 – 5331I → K: Abolishes interaction with RAB9A. 1 Publication
    Mutagenesisi608 – 6114Missing : Does not affect subcellular location, suggesting this protein is not prenylated. 1 Publication

    Organism-specific databases

    PharmGKBiPA38679.

    Polymorphism and mutation databases

    BioMutaiRHOBTB3.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 611611Rho-related BTB domain-containing protein 3PRO_0000198964Add
    BLAST

    Proteomic databases

    EPDiO94955.
    MaxQBiO94955.
    PaxDbiO94955.
    PRIDEiO94955.

    PTM databases

    iPTMnetiO94955.
    PhosphoSiteiO94955.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiO94955.
    CleanExiHS_RHOBTB3.
    ExpressionAtlasiO94955. baseline and differential.
    GenevisibleiO94955. HS.

    Organism-specific databases

    HPAiHPA000978.

    Interactioni

    Subunit structurei

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

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    BHLHE40O145033EBI-2367123,EBI-711810
    RAB9AP244085EBI-2367123,EBI-1646050From a different organism.
    RBPMSQ930623EBI-2367123,EBI-740322
    UBXN11Q5T1243EBI-2367123,EBI-746004

    GO - Molecular functioni

    • Rab GTPase binding Source: UniProtKB

    Protein-protein interaction databases

    BioGridi116510. 29 interactions.
    IntActiO94955. 6 interactions.
    STRINGi9606.ENSP00000369318.

    Structurei

    3D structure databases

    ProteinModelPortaliO94955.
    SMRiO94955. Positions 414-556.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini254 – 356103BTB 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini420 – 48768BTB 2PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 175175Rho-likeAdd
    BLAST
    Regioni420 – 611192Interaction with Rab9Add
    BLAST

    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.

    Sequence similaritiesi

    Contains 2 BTB (POZ) domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiKOG0393. Eukaryota.
    COG1100. LUCA.
    GeneTreeiENSGT00760000119020.
    HOGENOMiHOG000133048.
    HOVERGENiHBG079130.
    InParanoidiO94955.
    KOiK07869.
    OMAiDVVFYNP.
    OrthoDBiEOG7T1R9R.
    PhylomeDBiO94955.
    TreeFamiTF323347.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR000210. BTB/POZ_dom.
    IPR027417. P-loop_NTPase.
    IPR031260. RhoBTB3.
    IPR011333. SKP1/BTB/POZ.
    IPR001806. Small_GTPase.
    [Graphical view]
    PANTHERiPTHR24072:SF139. PTHR24072:SF139. 1 hit.
    PfamiPF00651. BTB. 2 hits.
    PF00071. Ras. 1 hit.
    [Graphical view]
    SMARTiSM00225. BTB. 2 hits.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    SSF54695. SSF54695. 3 hits.
    PROSITEiPS50097. BTB. 2 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    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

    Sequence cautioni

    The sequence BAA74901.2 differs from that shown. Reason: Erroneous initiation. Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201R → Q.1 Publication
    Corresponds to variant rs17855649 [ dbSNP | Ensembl ].
    VAR_030490
    Natural varianti21 – 211P → R.
    Corresponds to variant rs2302980 [ dbSNP | Ensembl ].
    VAR_018481
    Natural varianti262 – 2621N → D.2 Publications
    Corresponds to variant rs34899 [ dbSNP | Ensembl ].
    VAR_018482

    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

    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. Positions 414-556.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi116510. 29 interactions.
    IntActiO94955. 6 interactions.
    STRINGi9606.ENSP00000369318.

    PTM databases

    iPTMnetiO94955.
    PhosphoSiteiO94955.

    Polymorphism and mutation databases

    BioMutaiRHOBTB3.

    Proteomic databases

    EPDiO94955.
    MaxQBiO94955.
    PaxDbiO94955.
    PRIDEiO94955.

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

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

    Organism-specific databases

    CTDi22836.
    GeneCardsiRHOBTB3.
    H-InvDBHIX0005046.
    HGNCiHGNC:18757. RHOBTB3.
    HPAiHPA000978.
    MIMi607353. gene.
    neXtProtiNX_O94955.
    PharmGKBiPA38679.
    HUGEiSearch...
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG0393. Eukaryota.
    COG1100. LUCA.
    GeneTreeiENSGT00760000119020.
    HOGENOMiHOG000133048.
    HOVERGENiHBG079130.
    InParanoidiO94955.
    KOiK07869.
    OMAiDVVFYNP.
    OrthoDBiEOG7T1R9R.
    PhylomeDBiO94955.
    TreeFamiTF323347.

    Miscellaneous databases

    ChiTaRSiRHOBTB3. human.
    GeneWikiiRHOBTB3.
    GenomeRNAii22836.
    NextBioi43269.
    PROiO94955.
    SOURCEiSearch...

    Gene expression databases

    BgeeiO94955.
    CleanExiHS_RHOBTB3.
    ExpressionAtlasiO94955. baseline and differential.
    GenevisibleiO94955. HS.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR000210. BTB/POZ_dom.
    IPR027417. P-loop_NTPase.
    IPR031260. RhoBTB3.
    IPR011333. SKP1/BTB/POZ.
    IPR001806. Small_GTPase.
    [Graphical view]
    PANTHERiPTHR24072:SF139. PTHR24072:SF139. 1 hit.
    PfamiPF00651. BTB. 2 hits.
    PF00071. Ras. 1 hit.
    [Graphical view]
    SMARTiSM00225. BTB. 2 hits.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    SSF54695. SSF54695. 3 hits.
    PROSITEiPS50097. BTB. 2 hits.
    [Graphical view]
    ProtoNetiSearch...

    Publicationsi

    « Hide 'large scale' publications
    1. "Genomic organization and expression profile of the small GTPases of the RhoBTB family in human and mouse."
      Ramos S., Khademi F., Somesh B.P., Rivero F.
      Gene 298:147-157(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ASP-262, TISSUE SPECIFICITY.
    2. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASP-262.
      Tissue: Brain.
    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: Hippocampus.
    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], VARIANT GLN-20.
      Tissue: Brain and Muscle.
    5. "RhoBTB3: a Rho GTPase-family ATPase required for endosome to Golgi transport."
      Espinosa E.J., Calero M., Sridevi K., Pfeffer S.R.
      Cell 137:938-948(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, BIOPHYSICOCHEMICAL PROPERTIES, ATP-BINDING, INTERACTION WITH RAB9A; RAB9B AND M6PRBP1, MUTAGENESIS OF ASN-138; ALA-498; ASP-532; ILE-533 AND 608-CYS--MET-611.

    Entry informationi

    Entry nameiRHBT3_HUMAN
    AccessioniPrimary (citable) accession number: O94955
    Secondary accession number(s): A0PJA4, A8K1W9, Q8IW06
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2002
    Last sequence update: February 6, 2007
    Last modified: May 11, 2016
    This is version 128 of the entry and version 2 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 5
      Human chromosome 5: 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

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.