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Q8WXI9 (P66B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transcriptional repressor p66-beta
Alternative name(s):
GATA zinc finger domain-containing protein 2B
p66/p68
Gene names
Name:GATAD2B
Synonyms:KIAA1150
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length593 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2A. Targets MBD3 to discrete loci in the nucleus. May play a role in synapse development. Ref.6 Ref.8

Subunit structure

Binds MBD2 and MBD3. Interaction with MBD2 is required for the enhancement of MBD2-mediated repression and for targeting to the chromatin. Component of the MeCP1 histone deacetylase complex. Interacts with histone tails, including that of histones H2A, H2B, H3 and H4. Ref.1 Ref.6 Ref.8

Subcellular location

Nucleus speckle. Note: Speckled nuclear localization requires both CR1 and CR2 regions. Ref.1 Ref.6 Ref.8

Tissue specificity

Widely expressed. Ref.6

Domain

Both CR1 and CR2 regions are required for speckled nuclear localization.

Involvement in disease

Mental retardation, autosomal dominant 18 (MRD18) [MIM:615074]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD18 patients have severe intellectual disability and dysmorphic features.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17 Ref.18

Sequence similarities

Contains 1 GATA-type zinc finger.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DiseaseMental retardation
   DomainCoiled coil
Zinc-finger
   LigandMetal-binding
Zinc
   Molecular functionRepressor
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processtranscription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnuclear speck

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from direct assay. Source: HPA

   Molecular_functionsequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: InterPro

zinc ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 593593Transcriptional repressor p66-beta
PRO_0000083502

Regions

Zinc finger414 – 46754GATA-type
Region165 – 19531CR1; MBD2- and MBD3-binding
Region340 – 480141CR2; histone tail-binding
Coiled coil140 – 19455 Potential
Coiled coil449 – 48234 Potential

Amino acid modifications

Modified residue1201Phosphothreonine Ref.11 Ref.13 Ref.14 Ref.16
Modified residue1221Phosphoserine Ref.11 Ref.13 Ref.14 Ref.16
Modified residue1291Phosphoserine Ref.11 Ref.13 Ref.14 Ref.16
Modified residue1341Phosphoserine Ref.11 Ref.13
Modified residue1351Phosphoserine Ref.11 Ref.13 Ref.14
Modified residue3331Phosphoserine Ref.11
Modified residue3381Phosphoserine Ref.14
Modified residue4861Phosphoserine Ref.7 Ref.11 Ref.14

Natural variations

Natural variant3161I → V. Ref.18
VAR_069363
Natural variant5861S → L. Ref.18
VAR_069364

Sequences

Sequence LengthMass (Da)Tools
Q8WXI9 [UniParc].

Last modified March 1, 2002. Version 1.
Checksum: 5EB375C7EB24210B

FASTA59365,261
        10         20         30         40         50         60 
MDRMTEDALR LNLLKRSLDP ADERDDVLAK RLKMEGHEAM ERLKMLALLK RKDLANLEVP 

        70         80         90        100        110        120 
HELPTKQDGS GVKGYEEKLN GNLRPHGDNR TAGRPGKENI NDEPVDMSAR RSEPERGRLT 

       130        140        150        160        170        180 
PSPDIIVLSD NEASSPRSSS RMEERLKAAN LEMFKGKGIE ERQQLIKQLR DELRLEEARL 

       190        200        210        220        230        240 
VLLKKLRQSQ LQKENVVQKT PVVQNAASIV QPSPAHVGQQ GLSKLPSRPG AQGVEPQNLR 

       250        260        270        280        290        300 
TLQGHSVIRS ATNTTLPHML MSQRVIAPNP AQLQGQRGPP KPGLVRTTTP NMNPAINYQP 

       310        320        330        340        350        360 
QSSSSVPCQR TTSSAIYMNL ASHIQPGTVN RVSSPLPSPS AMTDAANSQA AAKLALRKQL 

       370        380        390        400        410        420 
EKTLLEIPPP KPPAPLLHFL PSAANSEFIY MVGLEEVVQS VIDSQGKSCA SLLRVEPFVC 

       430        440        450        460        470        480 
AQCRTDFTPH WKQEKNGKIL CEQCMTSNQK KALKAEHTNR LKNAFVKALQ QEQEIEQRLQ 

       490        500        510        520        530        540 
QQAALSPTTA PAVSSVSKQE TIMRHHTLRQ APQPQSSLQR GIPTSARSML SNFAQAPQLS 

       550        560        570        580        590 
VPGGLLGMPG VNIAYLNTGI GGHKGPSLAD RQREYLLDMI PPRSISQSIS GQK 

« Hide

References

« Hide 'large scale' references
[1]"Identification and functional characterization of the p66/p68 components of the MeCP1 complex."
Feng Q., Cao R., Xia L., Erdjument-Bromage H., Tempst P., Zhang Y.
Mol. Cell. Biol. 22:536-546(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], IDENTIFICATION BY MASS SPECTROMETRY, INTERACTION WITH MBD2; MBD3 AND THE MECP1 COMPLEX, SUBCELLULAR LOCATION.
[2]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]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].
[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: Lung.
[5]"Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."
Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.
DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 95-593.
Tissue: Brain.
[6]"Two highly related p66 proteins comprise a new family of potent transcriptional repressors interacting with MBD2 and MBD3."
Brackertz M., Boeke J., Zhang R., Renkawitz R.
J. Biol. Chem. 277:40958-40966(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH MBD2 AND MBD3, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[7]"A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-486, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"p66alpha and p66beta of the Mi-2/NuRD complex mediate MBD2 and histone interaction."
Brackertz M., Gong Z., Leers J., Renkawitz R.
Nucleic Acids Res. 34:397-406(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH MBD2 AND HISTONE TAILS, SUBCELLULAR LOCATION.
[9]"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra."
Yu L.R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D.
J. Proteome Res. 6:4150-4162(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-120; SER-122; SER-129; SER-134; SER-135; SER-333 AND SER-486, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-120; SER-122; SER-129; SER-134 AND SER-135, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[14]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-120; SER-122; SER-129; SER-135; SER-338 AND SER-486, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[15]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[16]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-120; SER-122 AND SER-129, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[17]"GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila."
Willemsen M.H., Nijhof B., Fenckova M., Nillesen W.M., Bongers E.M., Castells-Nobau A., Asztalos L., Viragh E., van Bon B.W., Tezel E., Veltman J.A., Brunner H.G., de Vries B.B., de Ligt J., Yntema H.G., van Bokhoven H., Isidor B., Le Caignec C. expand/collapse author list , Lorino E., Asztalos Z., Koolen D.A., Vissers L.E., Schenck A., Kleefstra T.
J. Med. Genet. 50:507-514(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MRD18.
[18]"Diagnostic exome sequencing in persons with severe intellectual disability."
de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G., Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C., del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G., Veltman J.A., Vissers L.E.
N. Engl. J. Med. 367:1921-1929(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MRD18, VARIANTS VAL-316 AND LEU-586.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF411836 mRNA. Translation: AAL39080.1.
AL513523 Genomic DNA. Translation: CAH71425.1.
CH471121 Genomic DNA. Translation: EAW53270.1.
BC069419 mRNA. Translation: AAH69419.1.
BC112052 mRNA. Translation: AAI12053.1.
BC112080 mRNA. Translation: AAI12081.1.
AB032976 mRNA. Translation: BAA86464.1.
RefSeqNP_065750.1. NM_020699.2.
XP_005245421.1. XM_005245364.2.
UniGeneHs.4779.
Hs.596854.

3D structure databases

ProteinModelPortalQ8WXI9.
SMRQ8WXI9. Positions 160-199.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121529. 25 interactions.
IntActQ8WXI9. 21 interactions.
MINTMINT-1197791.
STRING9606.ENSP00000357644.

PTM databases

PhosphoSiteQ8WXI9.

Polymorphism databases

DMDM50401096.

Proteomic databases

PaxDbQ8WXI9.
PeptideAtlasQ8WXI9.
PRIDEQ8WXI9.

Protocols and materials databases

DNASU57459.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000368655; ENSP00000357644; ENSG00000143614.
ENST00000576342; ENSP00000458280; ENSG00000261992.
GeneID57459.
KEGGhsa:57459.
UCSCuc001fdb.4. human.

Organism-specific databases

CTD57459.
GeneCardsGC01M153777.
HGNCHGNC:30778. GATAD2B.
HPAHPA017015.
MIM614998. gene.
615074. phenotype.
neXtProtNX_Q8WXI9.
Orphanet363686. Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome.
PharmGKBPA142671747.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG293566.
HOGENOMHOG000074070.
HOVERGENHBG053401.
InParanoidQ8WXI9.
OMAPCQRTTS.
OrthoDBEOG783MV0.
PhylomeDBQ8WXI9.
TreeFamTF321369.

Gene expression databases

BgeeQ8WXI9.
CleanExHS_GATAD2B.
GenevestigatorQ8WXI9.

Family and domain databases

Gene3D3.30.50.10. 1 hit.
InterProIPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PfamPF00320. GATA. 1 hit.
[Graphical view]
PROSITEPS50114. GATA_ZN_FINGER_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSGATAD2B. human.
GeneWikiGATAD2B.
GenomeRNAi57459.
NextBio63644.
PROQ8WXI9.
SOURCESearch...

Entry information

Entry nameP66B_HUMAN
AccessionPrimary (citable) accession number: Q8WXI9
Secondary accession number(s): D3DUZ2 expand/collapse secondary AC list , Q5VUR2, Q7LG68, Q9ULS0
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: March 1, 2002
Last modified: April 16, 2014
This is version 113 of the entry and version 1 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM