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Q9BYZ6 (RHBT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Rho-related BTB domain-containing protein 2
Alternative name(s):
Deleted in breast cancer 2 gene protein
p83
Gene names
Name:RHOBTB2
Synonyms:DBC2, KIAA0717
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length727 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Tissue specificity

Ubiquitous, with highest levels in neural tissues. Expression is also detected in fetal lung, heart, and brain. Ref.1

Sequence similarities

Belongs to the small GTPase superfamily. Rho family.

Contains 2 BTB (POZ) domains.

Sequence caution

The sequence AAH34917.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAA34437.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
   DomainRepeat
   LigandGTP-binding
Nucleotide-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processregulation of small GTPase mediated signal transduction

Traceable author statement. Source: Reactome

small GTPase mediated signal transduction

Traceable author statement. Source: Reactome

   Cellular_componentcytosol

Traceable author statement. Source: Reactome

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionGTP binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BYZ6-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9BYZ6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MQAWRKGPDGPQKTSSDSMSRLM
Isoform 3 (identifier: Q9BYZ6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MKARSRLM
Note: No experimental confirmation available. Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 727727Rho-related BTB domain-containing protein 2
PRO_0000198962

Regions

Domain266 – 442177BTB 1
Domain500 – 56768BTB 2
Nucleotide binding21 – 288GTP Potential
Nucleotide binding84 – 885GTP Potential
Nucleotide binding140 – 1434GTP Potential
Region1 – 210210Rho-like

Natural variations

Alternative sequence11M → MQAWRKGPDGPQKTSSDSMS RLM in isoform 2.
VSP_054098
Alternative sequence11M → MKARSRLM in isoform 3.
VSP_054099

Experimental info

Sequence conflict2551C → G in AAG61157. Ref.2
Sequence conflict2691I → F in BAF85552. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 28, 2002. Version 2.
Checksum: 25C7493B2894A1B3

FASTA72782,626
        10         20         30         40         50         60 
MDSDMDYERP NVETIKCVVV GDNAVGKTRL ICARACNATL TQYQLLATHV PTVWAIDQYR 

        70         80         90        100        110        120 
VCQEVLERSR DVVDDVSVSL RLWDTFGDHH KDRRFAYGRS DVVVLCFSIA NPNSLHHVKT 

       130        140        150        160        170        180 
MWYPEIKHFC PRAPVILVGC QLDLRYADLE AVNRARRPLA RPIKPNEILP PEKGREVAKE 

       190        200        210        220        230        240 
LGIPYYETSV VAQFGIKDVF DNAIRAALIS RRHLQFWKSH LRNVQRPLLQ APFLPPKPPP 

       250        260        270        280        290        300 
PIIVVPDPPS SSEECPAHLL EDPLCADVIL VLQERVRIFA HKIYLSTSSS KFYDLFLMDL 

       310        320        330        340        350        360 
SEGELGGPSE PGGTHPEDHQ GHSDQHHHHH HHHHGRDFLL RAASFDVCES VDEAGGSGPA 

       370        380        390        400        410        420 
GLRASTSDGI LRGNGTGYLP GRGRVLSSWS RAFVSIQEEM AEDPLTYKSR LMVVVKMDSS 

       430        440        450        460        470        480 
IQPGPFRAVL KYLYTGELDE NERDLMHIAH IAELLEVFDL RMMVANILNN EAFMNQEITK 

       490        500        510        520        530        540 
AFHVRRTNRV KECLAKGTFS DVTFILDDGT ISAHKPLLIS SCDWMAAMFG GPFVESSTRE 

       550        560        570        580        590        600 
VVFPYTSKSC MRAVLEYLYT GMFTSSPDLD DMKLIILANR LCLPHLVALT EQYTVTGLME 

       610        620        630        640        650        660 
ATQMMVDIDG DVLVFLELAQ FHCAYQLADW CLHHICTNYN NVCRKFPRDM KAMSPENQEY 

       670        680        690        700        710        720 
FEKHRWPPVW YLKEEDHYQR ARKEREKEDY LHLKRQPKRR WLFWNSPSSP SSSAASSSSP 


SSSSAVV 

« Hide

Isoform 2 [UniParc].

Checksum: 59E1FB3AD5DF7D10
Show »

FASTA74985,072
Isoform 3 [UniParc].

Checksum: 8CD8EF21264ACAA3
Show »

FASTA73483,469

References

« Hide 'large scale' references
[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 [GENOMIC DNA], TISSUE SPECIFICITY.
[2]"Homozygously deleted genes in breast cancer."
Hamaguchi M., King D., Meth J., Odawara T., Wigler M.
Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]"Genomic sequence for DBC2."
Hamaguchi M., Meth J., Odawara T.
Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"Prediction of the coding sequences of unidentified human genes. XI. 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., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[5]"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION.
[6]"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. expand/collapse author list , 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] (ISOFORM 1).
Tissue: Trachea.
[7]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]"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] (ISOFORM 2).
Tissue: Eye.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY009093 mRNA. Translation: AAG61157.1.
AF315385 Genomic DNA. Translation: AAK07562.1.
AB018260 mRNA. Translation: BAA34437.2. Different initiation.
AK292863 mRNA. Translation: BAF85552.1.
AC107959 Genomic DNA. No translation available.
CH471080 Genomic DNA. Translation: EAW63644.1.
CH471080 Genomic DNA. Translation: EAW63646.1.
BC034917 mRNA. Translation: AAH34917.1. Different initiation.
RefSeqNP_001153508.1. NM_001160036.1.
NP_001153509.1. NM_001160037.1.
NP_055993.2. NM_015178.2.
UniGeneHs.372688.

3D structure databases

ProteinModelPortalQ9BYZ6.
SMRQ9BYZ6. Positions 13-208.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116828. 7 interactions.
STRING9606.ENSP00000251822.

PTM databases

PhosphoSiteQ9BYZ6.

Polymorphism databases

DMDM26006845.

Proteomic databases

PaxDbQ9BYZ6.
PRIDEQ9BYZ6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000251822; ENSP00000251822; ENSG00000008853.
ENST00000519685; ENSP00000427926; ENSG00000008853.
ENST00000522948; ENSP00000429141; ENSG00000008853.
GeneID23221.
KEGGhsa:23221.
UCSCuc003xcq.2. human.

Organism-specific databases

CTD23221.
GeneCardsGC08P022844.
H-InvDBHIX0034584.
HGNCHGNC:18756. RHOBTB2.
HPAHPA060938.
MIM607352. gene.
neXtProtNX_Q9BYZ6.
PharmGKBPA38678.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1100.
HOGENOMHOG000007723.
HOVERGENHBG054987.
InParanoidQ9BYZ6.
KOK07868.
PhylomeDBQ9BYZ6.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

ArrayExpressQ9BYZ6.
BgeeQ9BYZ6.
CleanExHS_RHOBTB2.
GenevestigatorQ9BYZ6.

Family and domain databases

Gene3D3.30.710.10. 3 hits.
3.40.50.300. 1 hit.
InterProIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR027417. P-loop_NTPase.
IPR001806. Small_GTPase.
IPR003578. Small_GTPase_Rho.
[Graphical view]
PfamPF00651. BTB. 2 hits.
PF00071. Ras. 1 hit.
[Graphical view]
PRINTSPR00449. RASTRNSFRMNG.
SMARTSM00225. BTB. 2 hits.
SM00174. RHO. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
SSF54695. SSF54695. 3 hits.
PROSITEPS50097. BTB. 2 hits.
PS51420. RHO. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRHOBTB2. human.
GeneWikiRHOBTB2.
GenomeRNAi23221.
NextBio44815.
PROQ9BYZ6.
SOURCESearch...

Entry information

Entry nameRHBT2_HUMAN
AccessionPrimary (citable) accession number: Q9BYZ6
Secondary accession number(s): A8K9Z8 expand/collapse secondary AC list , D3DSR8, E9PBU2, E9PEI7, O94825, Q8N4A8, Q9BZK6
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: November 28, 2002
Last modified: April 16, 2014
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM