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Q9BXF3 (CECR2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cat eye syndrome critical region protein 2
Gene names
Name:CECR2
Synonyms:KIAA1740
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1484 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (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. Ref.7

Subunit structure

Part of the CECR2-containing remodeling factor (CERF) complex which contains CECR2 and SMARCA1. Interacts with acetylated lysine residues on histone H2A and H3 (in vitro). Interacts with LRPPRC. Ref.6 Ref.7 Ref.9

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 dup22(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.

Sequence similarities

Contains 1 bromo domain.

Sequence caution

The sequence CAH56122.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence CAH56212.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence EAW57756.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform A (identifier: Q9BXF3-1)

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 B (identifier: Q9BXF3-2)

Also known as: CECR2B;

The sequence of this isoform differs from the canonical sequence as follows:
     291-318: Missing.
     519-526: EYTKMSDN → GKQGRSLC
     527-1484: Missing.
Isoform C (identifier: Q9BXF3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     370-389: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14841484Cat eye syndrome critical region protein 2
PRO_0000211192

Regions

Domain451 – 52171Bromo
Compositional bias333 – 3375Poly-Glu
Compositional bias611 – 6144Poly-Ser
Compositional bias1250 – 12534Poly-Pro

Amino acid modifications

Modified residue4221Phosphoserine Ref.8
Modified residue5461Phosphothreonine Ref.8
Modified residue5711Phosphoserine Ref.8
Modified residue10141Phosphoserine Ref.8
Modified residue13121Phosphoserine Ref.8

Natural variations

Alternative sequence291 – 31828Missing in isoform B.
VSP_000571
Alternative sequence370 – 38920Missing in isoform C.
VSP_020407
Alternative sequence519 – 5268EYTKMSDN → GKQGRSLC in isoform B.
VSP_000572
Alternative sequence527 – 1484958Missing in isoform B.
VSP_000573
Natural variant2931R → H.
Corresponds to variant rs5747211 [ dbSNP | Ensembl ].
VAR_027411
Natural variant6741P → L. Ref.1 Ref.5
Corresponds to variant rs1296794 [ dbSNP | Ensembl ].
VAR_027412

Experimental info

Sequence conflict3521M → I in CAH56122. Ref.4
Sequence conflict3521M → I in CAH56212. Ref.4
Sequence conflict10291S → C in AAK15343. Ref.1
Sequence conflict10451W → R in AAK15343. Ref.1
Sequence conflict14411M → T in CAH56122. Ref.4
Sequence conflict14411M → T in CAH56212. Ref.4

Secondary structure

............... 1484
Helix Strand Turn

Details...

Sequences

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

Last modified September 5, 2006. Version 2.
Checksum: 8680DB16A0B90D0D

FASTA1,484164,213
        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 

« Hide

Isoform B (CECR2B) [UniParc].

Checksum: 40A2A890E9B5B9D6
Show »

FASTA49858,108
Isoform C [UniParc].

Checksum: 3321852BA97D5481
Show »

FASTA1,464162,067

References

« Hide 'large scale' references
[1]"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."
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. expand/collapse author list , Yao Z., Chen F., Huan A., Hu P., Wang Q., Loh P., Qi S., Roe B.A., McDermid H.E.
Genome Res. 11:1053-1070(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), VARIANT LEU-674.
[2]"The DNA sequence of human chromosome 22."
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. expand/collapse author list , 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.
Nature 402:489-495(1999) [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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 36-1484 (ISOFORM C).
Tissue: Skeletal muscle.
[5]"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."
Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 346-1484 (ISOFORM C), VARIANT LEU-674.
Tissue: Brain.
[6]"Sequence analysis of LRPPRC and its SEC1 domain interaction partners suggests roles in cytoskeletal organization, vesicular trafficking, nucleocytosolic shuttling, and chromosome activity."
Liu L., McKeehan W.L.
Genomics 79:124-136(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 168-1484 (ISOFORM B), INTERACTION WITH LRPPRC.
Tissue: Liver.
[7]"CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L."
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.
Hum. Mol. Genet. 14:513-524(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, IDENTIFICATION IN THE CERF COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
[8]"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 SER-422; THR-546; SER-571; SER-1014 AND SER-1312, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Histone recognition and large-scale structural analysis of the human bromodomain family."
Filippakopoulos P., Picaud S., Mangos M., Keates T., Lambert J.P., Barsyte-Lovejoy D., Felletar I., Volkmer R., Muller S., Pawson T., Gingras A.C., Arrowsmith C.H., Knapp S.
Cell 149:214-231(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.83 ANGSTROMS) OF 424-538, SUBUNIT.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF336133 mRNA. Translation: AAK15343.1.
AC004019 Genomic DNA. No translation available.
CH471193 Genomic DNA. Translation: EAW57756.1. Different initiation.
BX647449 mRNA. Translation: CAH56122.1. Different initiation.
AL832377 mRNA. Translation: CAH56212.1. Different initiation.
AB051527 mRNA. Translation: BAB21831.1.
AF411609 mRNA. Translation: AAL07393.1.
RefSeqNP_001276975.1. NM_001290046.1.
NP_001276976.1. NM_001290047.1. [Q9BXF3-3]
UniGeneHs.231895.
Hs.658723.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3NXBX-ray1.83A/B424-538[»]
ProteinModelPortalQ9BXF3.
SMRQ9BXF3. Positions 412-537.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118176. 4 interactions.
STRING9606.ENSP00000262608.

PTM databases

PhosphoSiteQ9BXF3.

Polymorphism databases

DMDM114152782.

Proteomic databases

PaxDbQ9BXF3.
PRIDEQ9BXF3.

Protocols and materials databases

DNASU27443.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262608; ENSP00000262608; ENSG00000099954.
GeneID27443.
KEGGhsa:27443.
UCSCuc010gqw.1. human. [Q9BXF3-1]

Organism-specific databases

GeneCardsGC22P017840.
H-InvDBHIX0023032.
HGNCHGNC:1840. CECR2.
HPAHPA002943.
MIM607576. gene.
neXtProtNX_Q9BXF3.
PharmGKBPA26383.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5076.
HOGENOMHOG000081808.
HOVERGENHBG081078.
PhylomeDBQ9BXF3.
TreeFamTF324727.

Gene expression databases

ArrayExpressQ9BXF3.
BgeeQ9BXF3.
CleanExHS_CECR2.
GenevestigatorQ9BXF3.

Family and domain databases

Gene3D1.20.920.10. 1 hit.
InterProIPR001487. Bromodomain.
IPR018359. Bromodomain_CS.
[Graphical view]
PfamPF00439. Bromodomain. 1 hit.
[Graphical view]
PRINTSPR00503. BROMODOMAIN.
SMARTSM00297. BROMO. 1 hit.
[Graphical view]
SUPFAMSSF47370. SSF47370. 1 hit.
PROSITEPS00633. BROMODOMAIN_1. 1 hit.
PS50014. BROMODOMAIN_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCECR2. human.
EvolutionaryTraceQ9BXF3.
GenomeRNAi27443.
NextBio50516.
PROQ9BXF3.
SOURCESearch...

Entry information

Entry nameCECR2_HUMAN
AccessionPrimary (citable) accession number: Q9BXF3
Secondary accession number(s): A8MS90 expand/collapse secondary AC list , A8MX16, Q658Z4, Q96P58, Q9C0C3
Entry history
Integrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: September 5, 2006
Last modified: July 9, 2014
This is version 110 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 22

Human chromosome 22: entries, gene names and cross-references to MIM