Reviewed,
UniProtKB/Swiss-Prot Q9BXF3 (CECR2_HUMAN)
Last modified
January 19, 2010.
Version 72.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Cat eye syndrome critical region protein 2 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1484 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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 LRPPRC. Ref.6 |
| 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. |
| Sequence similarities | Contains 1 bromo domain. |
| Sequence caution | The sequence EAW57756.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended/shortened. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Bromodomain |
| Molecular function | Chromatin regulator |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | DNA fragmentation involved in apoptosis Traceable author statement. Source: HGNC chromatin modificationInferred from electronic annotation. Source: UniProtKB-KW cytokinesis Ref.6Non-traceable author statement. Source: UniProtKB cytoskeleton organization Ref.6Non-traceable author statement. Source: UniProtKB vesicle-mediated transport Ref.6Non-traceable author statement. Source: UniProtKB |
| Cellular component | nucleus Inferred from direct assay. Source: HGNC |
| Molecular function | protein binding Inferred from physical interaction. Source: HGNC |
| Complete GO annotation... | |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1484 | 1484 | Cat eye syndrome critical region protein 2 | PRO_0000211192 | |||||
Regions | |||||||||
| Domain | 451 – 521 | 71 | Bromo | ||||||
| Compositional bias | 333 – 337 | 5 | Poly-Glu | ||||||
| Compositional bias | 611 – 614 | 4 | Poly-Ser | ||||||
| Compositional bias | 1250 – 1253 | 4 | Poly-Pro | ||||||
Natural variations | |||||||||
| Alternative sequence | 291 – 318 | 28 | Missing in isoform B. | VSP_000571 | |||||
| Alternative sequence | 370 – 389 | 20 | Missing in isoform C. | VSP_020407 | |||||
| Alternative sequence | 519 – 526 | 8 | EYTKMSDN → GKQGRSLC in isoform B. | VSP_000572 | |||||
| Alternative sequence | 527 – 1484 | 958 | Missing in isoform B. | VSP_000573 | |||||
| Natural variant | 293 | 1 | R → H: dbSNP rs5747211. | VAR_027411 | |||||
| Natural variant | 632 | 1 | P → L: dbSNP rs1296794. | VAR_048432 | |||||
| Natural variant | 674 | 1 | P → L: dbSNP rs1296794. Ref.1 Ref.5 | VAR_027412 | |||||
Experimental info | |||||||||
| Sequence conflict | 352 | 1 | M → I in CAH56122. Ref.4 | ||||||
| Sequence conflict | 352 | 1 | M → I in CAH56212. Ref.4 | ||||||
| Sequence conflict | 1029 | 1 | S → C in AAK15343. Ref.1 | ||||||
| Sequence conflict | 1045 | 1 | W → R in AAK15343. Ref.1 | ||||||
| Sequence conflict | 1441 | 1 | M → T in CAH56122. Ref.4 | ||||||
| Sequence conflict | 1441 | 1 | M → T in CAH56212. Ref.4 | ||||||
Sequences
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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. McDermid H.E.Genome Res. 11:1053-1070(2001) [PubMed: 11381032] [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. Wright H.Nature 402:489-495(1999) [PubMed: 10591208] [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. 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: 17974005] [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: 11214970] [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: 11827465] [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: 15640247] [Abstract] Cited for: FUNCTION, IDENTIFICATION IN THE CERF COMPLEX, MASS SPECTROMETRY. |
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. |
| IPI | IPI00215838. IPI00785169. IPI00848350. |
| RefSeq | NP_113601.2. |
| UniGene | Hs.658723 |
3D structure databases | |
| SMR | Q9BXF3. Positions 441-542. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q9BXF3. |
PTM databases | |
| PhosphoSite | Q9BXF3. |
Genome annotation databases | |
| Ensembl | ENST00000262608; ENSP00000262608; ENSG00000099954; Homo sapiens. [Genome view] ENST00000400579; ENSP00000383423; ENSG00000099954; Homo sapiens. [Genome view] |
| GeneID | 27443. |
| KEGG | hsa:27443. |
| NMPDR | fig|9606.3.peg.21180. |
Organism-specific databases | |
| CTD | 27443. |
| GeneCards | GC22P016328. |
| H-InvDB | HIX0023032. |
| HGNC | HGNC:1840. CECR2. |
| HPA | HPA002943. |
| MIM | 607576. gene. |
| Orphanet | 195. Cat-eye syndrome. |
| PharmGKB | PA26383. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG15998. |
| HOGENOM | HBG506250. |
| HOVERGEN | Q9BXF3. |
Gene expression databases | |
| ArrayExpress | Q9BXF3. |
| Bgee | Q9BXF3. |
| CleanEx | HS_CECR2. |
| Genevestigator | Q9BXF3. |
| GermOnline | ENSG00000099954. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001487. Bromodomain. IPR018359. Bromodomain_CS. [Graphical view] |
| Gene3D | G3DSA:1.20.920.10. Bromodomain. 1 hit. |
| Pfam | PF00439. Bromodomain. 1 hit. [Graphical view] |
| PRINTS | PR00503. BROMODOMAIN. |
| SMART | SM00297. BROMO. 1 hit. [Graphical view] |
| PROSITE | PS00633. BROMODOMAIN_1. 1 hit. PS50014. BROMODOMAIN_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 50516. |
| SOURCE | Search... |
Entry information
| Entry name | CECR2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BXF3 Secondary accession number(s): A8MS90 Q9C0C3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any 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
| Human chromosome 22 Human chromosome 22: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


