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Q8WXI9

- P66B_HUMAN

UniProt

Q8WXI9 - P66B_HUMAN

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Protein
Transcriptional repressor p66-beta
Gene
GATAD2B, KIAA1150
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.2 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri414 – 46754GATA-type
Add
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro
  2. sequence-specific DNA binding transcription factor activity Source: InterPro
  3. zinc ion binding Source: InterPro

GO - Biological processi

  1. ATP-dependent chromatin remodeling Source: UniProt
  2. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_953. RNA Polymerase I Transcription Initiation.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcriptional repressor p66-beta
Alternative name(s):
GATA zinc finger domain-containing protein 2B
p66/p68
Gene namesi
Name:GATAD2B
Synonyms:KIAA1150
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:30778. GATAD2B.

Subcellular locationi

Nucleus speckle
Note: Speckled nuclear localization requires both CR1 and CR2 regions.3 Publications

GO - Cellular componenti

  1. nuclear chromatin Source: UniProt
  2. nuclear speck Source: UniProtKB-SubCell
  3. nucleus Source: HPA
  4. protein complex Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.2 Publications

Keywords - Diseasei

Mental retardation

Organism-specific databases

MIMi615074. phenotype.
Orphaneti363686. Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome.
PharmGKBiPA142671747.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 593593Transcriptional repressor p66-beta
PRO_0000083502Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei120 – 1201Phosphothreonine4 Publications
Modified residuei122 – 1221Phosphoserine4 Publications
Modified residuei129 – 1291Phosphoserine4 Publications
Modified residuei134 – 1341Phosphoserine2 Publications
Modified residuei135 – 1351Phosphoserine3 Publications
Modified residuei333 – 3331Phosphoserine1 Publication
Modified residuei338 – 3381Phosphoserine1 Publication
Modified residuei486 – 4861Phosphoserine3 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8WXI9.
PaxDbiQ8WXI9.
PeptideAtlasiQ8WXI9.
PRIDEiQ8WXI9.

PTM databases

PhosphoSiteiQ8WXI9.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiQ8WXI9.
CleanExiHS_GATAD2B.
GenevestigatoriQ8WXI9.

Organism-specific databases

HPAiHPA017015.

Interactioni

Subunit structurei

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 H4.3 Publications

Protein-protein interaction databases

BioGridi121529. 29 interactions.
IntActiQ8WXI9. 21 interactions.
MINTiMINT-1197791.
STRINGi9606.ENSP00000357644.

Structurei

3D structure databases

ProteinModelPortaliQ8WXI9.
SMRiQ8WXI9. Positions 160-199.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni165 – 19531CR1; MBD2- and MBD3-binding
Add
BLAST
Regioni340 – 480141CR2; histone tail-binding
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili140 – 19455 Reviewed prediction
Add
BLAST
Coiled coili449 – 48234 Reviewed prediction
Add
BLAST

Domaini

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

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiNOG293566.
HOGENOMiHOG000074070.
HOVERGENiHBG053401.
InParanoidiQ8WXI9.
OMAiPCQRTTS.
OrthoDBiEOG783MV0.
PhylomeDBiQ8WXI9.
TreeFamiTF321369.

Family and domain databases

Gene3Di3.30.50.10. 1 hit.
InterProiIPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PfamiPF00320. GATA. 1 hit.
[Graphical view]
PROSITEiPS50114. GATA_ZN_FINGER_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8WXI9-1 [UniParc]FASTAAdd to Basket

« Hide

MDRMTEDALR LNLLKRSLDP ADERDDVLAK RLKMEGHEAM ERLKMLALLK    50
RKDLANLEVP HELPTKQDGS GVKGYEEKLN GNLRPHGDNR TAGRPGKENI 100
NDEPVDMSAR RSEPERGRLT PSPDIIVLSD NEASSPRSSS RMEERLKAAN 150
LEMFKGKGIE ERQQLIKQLR DELRLEEARL VLLKKLRQSQ LQKENVVQKT 200
PVVQNAASIV QPSPAHVGQQ GLSKLPSRPG AQGVEPQNLR TLQGHSVIRS 250
ATNTTLPHML MSQRVIAPNP AQLQGQRGPP KPGLVRTTTP NMNPAINYQP 300
QSSSSVPCQR TTSSAIYMNL ASHIQPGTVN RVSSPLPSPS AMTDAANSQA 350
AAKLALRKQL EKTLLEIPPP KPPAPLLHFL PSAANSEFIY MVGLEEVVQS 400
VIDSQGKSCA SLLRVEPFVC AQCRTDFTPH WKQEKNGKIL CEQCMTSNQK 450
KALKAEHTNR LKNAFVKALQ QEQEIEQRLQ QQAALSPTTA PAVSSVSKQE 500
TIMRHHTLRQ APQPQSSLQR GIPTSARSML SNFAQAPQLS VPGGLLGMPG 550
VNIAYLNTGI GGHKGPSLAD RQREYLLDMI PPRSISQSIS GQK 593
Length:593
Mass (Da):65,261
Last modified:March 1, 2002 - v1
Checksum:i5EB375C7EB24210B
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti316 – 3161I → V.1 Publication
VAR_069363
Natural varianti586 – 5861S → L.1 Publication
VAR_069364

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS1054.1.
RefSeqiNP_065750.1. NM_020699.2.
XP_005245421.1. XM_005245364.2.
XP_006711532.1. XM_006711469.1.
UniGeneiHs.4779.
Hs.596854.

Genome annotation databases

EnsembliENST00000368655; ENSP00000357644; ENSG00000143614.
ENST00000576342; ENSP00000458280; ENSG00000261992.
GeneIDi57459.
KEGGihsa:57459.
UCSCiuc001fdb.4. human.

Polymorphism databases

DMDMi50401096.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS1054.1.
RefSeqi NP_065750.1. NM_020699.2.
XP_005245421.1. XM_005245364.2.
XP_006711532.1. XM_006711469.1.
UniGenei Hs.4779.
Hs.596854.

3D structure databases

ProteinModelPortali Q8WXI9.
SMRi Q8WXI9. Positions 160-199.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121529. 29 interactions.
IntActi Q8WXI9. 21 interactions.
MINTi MINT-1197791.
STRINGi 9606.ENSP00000357644.

PTM databases

PhosphoSitei Q8WXI9.

Polymorphism databases

DMDMi 50401096.

Proteomic databases

MaxQBi Q8WXI9.
PaxDbi Q8WXI9.
PeptideAtlasi Q8WXI9.
PRIDEi Q8WXI9.

Protocols and materials databases

DNASUi 57459.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000368655 ; ENSP00000357644 ; ENSG00000143614 .
ENST00000576342 ; ENSP00000458280 ; ENSG00000261992 .
GeneIDi 57459.
KEGGi hsa:57459.
UCSCi uc001fdb.4. human.

Organism-specific databases

CTDi 57459.
GeneCardsi GC01M153777.
HGNCi HGNC:30778. GATAD2B.
HPAi HPA017015.
MIMi 614998. gene.
615074. phenotype.
neXtProti NX_Q8WXI9.
Orphaneti 363686. Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome.
PharmGKBi PA142671747.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG293566.
HOGENOMi HOG000074070.
HOVERGENi HBG053401.
InParanoidi Q8WXI9.
OMAi PCQRTTS.
OrthoDBi EOG783MV0.
PhylomeDBi Q8WXI9.
TreeFami TF321369.

Enzyme and pathway databases

Reactomei REACT_953. RNA Polymerase I Transcription Initiation.

Miscellaneous databases

ChiTaRSi GATAD2B. human.
GeneWikii GATAD2B.
GenomeRNAii 57459.
NextBioi 63644.
PROi Q8WXI9.
SOURCEi Search...

Gene expression databases

Bgeei Q8WXI9.
CleanExi HS_GATAD2B.
Genevestigatori Q8WXI9.

Family and domain databases

Gene3Di 3.30.50.10. 1 hit.
InterProi IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view ]
Pfami PF00320. GATA. 1 hit.
[Graphical view ]
PROSITEi PS50114. GATA_ZN_FINGER_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. 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. 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.
    , 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. Cited for: INVOLVEMENT IN MRD18, VARIANTS VAL-316 AND LEU-586.

Entry informationi

Entry nameiP66B_HUMAN
AccessioniPrimary (citable) accession number: Q8WXI9
Secondary accession number(s): D3DUZ2
, Q5VUR2, Q7LG68, Q9ULS0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: March 1, 2002
Last modified: September 3, 2014
This is version 117 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 1
    Human chromosome 1: 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

External Data

Dasty 3

Similar proteinsi