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UniProtKB/Swiss-Prot entry Q9BXF3


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name CECR2_HUMAN
Primary accession number Q9BXF3
Secondary accession numbers A8MS90 A8MX16 Q658Z4 Q96P58 Q9C0C3
Integrated into Swiss-Prot on April 16, 2002
Sequence was last modified on September 5, 2006 (Sequence version 2)
Annotations were last modified on    June 16, 2009 (Entry version 64)
Name and origin of the protein
Protein name Cat eye syndrome critical region protein 2
Synonyms None
Gene name
Name: CECR2
Synonyms: KIAA1740
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), AND VARIANT LEU-674.
DOI=10.1101/gr.154901; PubMed=11381032 [NCBI, ExPASy, EBI, Israel, Japan]
Footz T.K., Brinkman-Mills P., Banting G.S., Maier S.A., Riazi M.A., Bridgland L.J., Hu S., Birren B., Minoshima S., Shimizu N., Pan H., Nguyen T., Fang F., Fu Y., Ray L., Wu H., Shaull S., Phan S., Yao Z., Chen F., Huan A., Hu P., Wang Q., Loh P., Qi S., Roe B.A., McDermid H.E.;
"Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere.";
Genome Res. 11:1053-1070(2001).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/990031; PubMed=10591208 [NCBI, ExPASy, EBI, Israel, Japan]
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.;
"The DNA sequence of human chromosome 22.";
Nature 402:489-495(1999).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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., 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 36-1484 (ISOFORM C).
TISSUE=Skeletal muscle;
DOI=10.1186/1471-2164-8-399; PubMed=17974005 [NCBI, ExPASy, EBI, Israel, Japan]
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 346-1484 (ISOFORM C), AND VARIANT LEU-674.
TISSUE=Brain;
DOI=10.1093/dnares/7.6.347; PubMed=11214970 [NCBI, ExPASy, EBI, Israel, Japan]
Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.;
"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.";
DNA Res. 7:347-355(2000).
[6]
NUCLEOTIDE SEQUENCE [MRNA] OF 168-1484 (ISOFORM B), AND INTERACTION WITH LRPPRC.
TISSUE=Liver;
DOI=10.1006/geno.2001.6679; PubMed=11827465 [NCBI, ExPASy, EBI, Israel, Japan]
Liu L., McKeehan W.L.;
"Sequence analysis of LRPPRC and its SEC1 domain interaction partners suggests roles in cytoskeletal organization, vesicular trafficking, nucleocytosolic shuttling, and chromosome activity.";
Genomics 79:124-136(2002).
[7]
FUNCTION, IDENTIFICATION IN THE CERF COMPLEX, AND MASS SPECTROMETRY.
DOI=10.1093/hmg/ddi048; PubMed=15640247 [NCBI, ExPASy, EBI, Israel, Japan]
Banting G.S., Barak O., Ames T.M., Burnham A.C., Kardel M.D., Cooch N.S., Davidson C.E., Godbout R., McDermid H.E., Shiekhattar R.;
"CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L.";
Hum. Mol. Genet. 14:513-524(2005).
Comments
  • FUNCTION: Part of the CERF (CECR2-containing-remodeling factor) complex, which facilitates the perturbation of chromatin structure in an ATP-dependent manner. May be involved through its interaction with LRPPRC in the integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling and cytokinesis.
  • SUBUNIT: Part of the CECR2-containing remodeling factor (CERF) complex which contains CECR2 and SMARCA1. Interacts with LRPPRC.
  • ALTERNATIVE PRODUCTS: 3 named isoforms [FASTA] produced by alternative splicing.
    NameA
    Isoform IDQ9BXF3-1
    This is the isoform sequence displayed in this entry.
    NameB
    SynonymsCECR2B
    Isoform IDQ9BXF3-2
    Features which should be applied to build the isoform sequence: VSP_000571, VSP_000572, VSP_000573.
    NameC
    Isoform IDQ9BXF3-3
    Features which should be applied to build the isoform sequence: VSP_020407.
  • TISSUE SPECIFICITY: Highly expressed in skeletal muscle, thymus, placenta and lung. Expressed at lower level in brain, heart, colon, spleen, kidney.
  • MISCELLANEOUS: Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.
  • SIMILARITY: Contains 1 bromo domain.
  • SEQUENCE CAUTION:
    • Sequence=EAW57756.1; Type=Erroneous initiation; Note=Translation N-terminally extended/shortened
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF336133; AAK15343.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AC004019; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
CH471193; EAW57756.1; ALT_INIT; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BX647449; CAH56122.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL832377; CAH56212.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB051527; BAB21831.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF411609; AAL07393.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00215838; -.
IPI00785169; -.
IPI00848350; -.
RefSeq NP_113601.2; -.
UniGene Hs.658723
3D structure databases
HSSP Q03330; 1E6I. [HSSP ENTRY / PDB]
ModBase Q9BXF3.
PTM databases
PhosphoSite Q9BXF3; -.
Organism-specific databases
GeneCards GC22P016328; -.
H-InvDB HIX0023032; -.
HGNC HGNC:1840; CECR2.
GenAtlas CECR2.
HPA HPA002943; -.
MIM 607576; gene. [NCBI / EBI]
Orphanet 195; Cat-eye syndrome.
PharmGKB PA26383; -.
HUGE KIAA1740.
Gene expression databases
ArrayExpress Q9BXF3; -.
Bgee Q9BXF3; -.
CleanEx HS_CECR2; -.
GermOnline ENSG00000099954; Homo sapiens.
Ontologies
GO
GO:0005634; Cellular component: nucleus (inferred from direct assay from HGNC).
GO:0016568; Biological process: chromatin modification (inferred from electronic annotation from UniProtKB-KW).
GO:0000910; Biological process: cytokinesis (non-traceable author statement from UniProtKB).
GO:0007010; Biological process: cytoskeleton organization (non-traceable author statement from UniProtKB).
GO:0006309; Biological process: DNA fragmentation involved in apoptosis (traceable author statement from HGNC).
GO:0016192; Biological process: vesicle-mediated transport (non-traceable author statement from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR001487; Bromodomain.
IPR018359; Bromodomain_CS.
Graphical view of domain structure.
Gene3D G3DSA:1.20.920.10; Bromodomain; 1.
Pfam PF00439; Bromodomain; 1.
Pfam graphical view of domain structure.
PRINTS PR00503; BROMODOMAIN.
SMART SM00297; BROMO; 1.
SMART graphical view of domain structure.
PROSITE PS00633; BROMODOMAIN_1; 1.
PS50014; BROMODOMAIN_2; 1.
PROSITE graphical view of domain structure (profiles).
Genome annotation databases
Ensembl ENSG00000099954; Homo sapiens. [Contig view]
GeneID 27443; -.
KEGG hsa:27443; -.
NMPDR fig|9606.3.peg.21180; -.
Phylogenomic databases
HOGENOM Q9BXF3; -.
HOVERGEN Q9BXF3; -.
Other
NextBio 50516; -.
SOURCE CECR2; Homo sapiens.
ProtoNet Q9BXF3.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Bromodomain; Chromatin regulator; Polymorphism.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom    To Length Description FTId
CHAIN   1   1484  1484     Cat eye syndrome critical region protein 2. PRO_0000211192
DOMAIN   451    521  71     Bromo. 
COMPBIAS   333    337  5     Poly-Glu. 
COMPBIAS   611    614  4     Poly-Ser. 
COMPBIAS   1250   1253  4     Poly-Pro. 
VAR_SEQ   291    318        Missing (in isoform B). VSP_000571
VAR_SEQ   370    389        Missing (in isoform C). VSP_020407
VAR_SEQ   519    526        EYTKMSDN -> GKQGRSLC (in isoform B). VSP_000572
VAR_SEQ   527   1484        Missing (in isoform B). VSP_000573
VARIANT   293    293  1     R -> H (in dbSNP:rs5747211 [NCBI]). VAR_027411 
VARIANT   632    632  1     P -> L (in dbSNP:rs1296794 [NCBI]). VAR_048432 
VARIANT   674    674  1     P -> L (in dbSNP:rs1296794 [NCBI]). VAR_027412 
CONFLICT   352    352        M -> I (in Ref. 4; CAH56122/CAH56212). 
CONFLICT   1029   1029        S -> C (in Ref. 1; AAK15343). 
CONFLICT   1045   1045        W -> R (in Ref. 1; AAK15343). 
CONFLICT   1441   1441        M -> T (in Ref. 4; CAH56122/CAH56212). 
Sequence information
Length: 1484 AA [This is the length of the unprocessed precursor] Molecular weight: 164213 Da [This is the MW of the unprocessed precursor] CRC64: 8680DB16A0B90D0D [This is a checksum on the sequence]
        10         20         30         40         50         60 
MCPEEGGAAG LGELRSWWEV PAIAHFCSLF RTAFRLPDFE IEELEAALHR DDVEFISDLI 

        70         80         90        100        110        120 
ACLLQGCYQR RDITPQTFHS YLEDIINYRW ELEEGKPNPL REASFQDLPL RTRVEILHRL 

       130        140        150        160        170        180 
CDYRLDADDV FDLLKGLDAD SLRVEPLGED NSGALYWYFY GTRMYKEDPV QGKSNGELSL 

       190        200        210        220        230        240 
SRESEGQKNV SSIPGKTGKR RGRPPKRKKL QEEILLSEKQ EENSLASEPQ TRHGSQGPGQ 

       250        260        270        280        290        300 
GTWWLLCQTE EEWRQVTESF RERTSLRERQ LYKLLSEDFL PEICNMIAQK GKRPQRTKAE 

       310        320        330        340        350        360 
LHPRWMSDHL SIKPVKQEET PVLTRIEKQK RKEEEEERQI LLAVQKKEQE QMLKEERKRE 

       370        380        390        400        410        420 
LEEKVKAVEG MCSVRVVWRG ACLSTSRPVD RAKRRKLREE RAWLLAQGKE LPPELSHLDP 

       430        440        450        460        470        480 
NSPMREEKKT KDLFELDDDF TAMYKVLDVV KAHKDSWPFL EPVDESYAPN YYQIIKAPMD 

       490        500        510        520        530        540 
ISSMEKKLNG GLYCTKEEFV NDMKTMFRNC RKYNGESSEY TKMSDNLERC FHRAMMKHFP 

       550        560        570        580        590        600 
GEDGDTDEEF WIREDEKREK RRSRAGRSGG SHVWTRSRDP EGSSRKQQPM ENGGKSLPPT 

       610        620        630        640        650        660 
RRAPSSGDDQ SSSSTQPPRE VGTSNGRGFS HPLHCGGTPS QAPFLNQMRP AVPGTFGPLR 

       670        680        690        700        710        720 
GSDPATLYGS SGVPEPHPGE PVQQRQPFTM QPPVGINSLR GPRLGTPEEK QMCGGLTHLS 

       730        740        750        760        770        780 
NMGPHPGSLQ LGQISGPSQD GSMYAPAQFQ PGFIPPRHGG APARPPDFPE SSEIPPSHMY 

       790        800        810        820        830        840 
RSYKYLNRVH SAVWNGNHGA TNQGPLGPDE KPHLGPGPSH QPRTLGHVMD SRVMRPPVPP 

       850        860        870        880        890        900 
NQWTEQSGFL PHGVPSSGYM RPPCKSAGHR LQPPPVPAPS SLFGAPAQAL RGVQGGDSMM 

       910        920        930        940        950        960 
DSPEMIAMQQ LSSRVCPPGV PYHPHQPAHP RLPGPFPQVA HPMSVTVSAP KPALGNPGRA 

       970        980        990       1000       1010       1020 
PENSEAQEPE NDQAEPLPGL EEKPPGVGTS EGVYLTQLPH PTPPLQTDCT RQSSPQERET 

      1030       1040       1050       1060       1070       1080 
VGPELKSSSS ESADNCKAMK GKNPWPSDSS YPGPAAQGCV RDLSTVADRG ALSENGVIGE 

      1090       1100       1110       1120       1130       1140 
ASPCGSEGKG LGSSGSEKLL CPRGRTLQET MPCTGQNAAT PPSTDPGLTG GTVSQFPPLY 

      1150       1160       1170       1180       1190       1200 
MPGLEYPNSA AHYHISPGLQ GVGPVMGGKS PASHPQHFPP RGFQSNHPHS GGFPRYRPPQ 

      1210       1220       1230       1240       1250       1260 
GMRYSYHPPP QPSYHHYQRT PYYACPQSFS DWQRPLHPQG SPSGPPASQP PPPRSLFSDK 

      1270       1280       1290       1300       1310       1320 
NAMASLQGCE TLNAALTSPT RMDAVAAKVP NDGQNPGPEE EKLDESMERP ESPKEFLDLD 

      1330       1340       1350       1360       1370       1380 
NHNAATKRQS SLSASEYLYG TPPPLSSGMG FGSSAFPPHS VMLQTGPPYT PQRPASHFQP 

      1390       1400       1410       1420       1430       1440 
RAYSSPVAAL PPHHPGATQP NGLSQEGPIY RCQEEGLGHF QAVMMEQIGT RSGIRGPFQE 

      1450       1460       1470       1480 
MYRPSGMQMH PVQSQASFPK TPTAATSQEE VPPHKPPTLP LDQS 

Q9BXF3 in FASTA format

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