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UniProtKB - Q9BXF3 (CECR2_HUMAN)

Protein

Cat eye syndrome critical region protein 2

Gene

CECR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Chromatin reader component of histone-modifying complexes, such as the CERF (CECR2-containing-remodeling factor) complex and ISWI-type complex (PubMed:15640247, PubMed:26365797, PubMed:22464331). It thereby plays a role in various processes during development: required during embryogenesis for neural tube closure and inner ear development. In adults, required for spermatogenesis, via the formation of ISWI-type chromatin complexes (By similarity). In histone-modifying complexes, CECR2 recognizes and binds acylated histones: binds histones that are acetylated and/or butyrylated (PubMed:26365797, PubMed:22464331). May also be involved through its interaction with LRPPRC in the integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling and cytokinesis (PubMed:11827465).By similarity4 Publications

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.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

  • apoptotic DNA fragmentation Source: HGNC
  • ATP-dependent chromatin remodeling Source: MGI
  • cytoskeleton-dependent cytokinesis Source: UniProtKB
  • cytoskeleton organization Source: UniProtKB
  • execution phase of apoptosis Source: BHF-UCL
  • neural tube development Source: InterPro
  • vesicle-mediated transport Source: UniProtKB
View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChromatin regulator

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Cat eye syndrome critical region protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CECR2
Synonyms:KIAA1740
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000099954.18

Human Gene Nomenclature Database

More...HGNCi		HGNC:1840 CECR2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607576 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BXF3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		27443

Open Targets

More...OpenTargetsi		ENSG00000099954

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26383

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3108639

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		2733

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CECR2

Domain mapping of disease mutations (DMDM)

More...DMDMi		114152782

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002111921 – 1484Cat eye syndrome critical region protein 2Add BLAST1484

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei422PhosphoserineCombined sources1
Modified residuei546PhosphothreonineCombined sources1
Modified residuei571PhosphoserineCombined sources1
Modified residuei1014PhosphoserineCombined sources1
Modified residuei1197Asymmetric dimethylarginineBy similarity1
Modified residuei1203Asymmetric dimethylarginineBy similarity1
Modified residuei1312PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BXF3

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9BXF3

PeptideAtlas

More...PeptideAtlasi		Q9BXF3

PRoteomics IDEntifications database

More...PRIDEi		Q9BXF3

ProteomicsDB human proteome resource

More...ProteomicsDBi		79417
79418 [Q9BXF3-2]
79419 [Q9BXF3-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BXF3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9BXF3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in skeletal muscle, thymus, placenta and lung. Expressed at lower level in brain, heart, colon, spleen, kidney.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000099954 Expressed in 147 organ(s), highest expression level in gastrocnemius

CleanEx database of gene expression profiles

More...CleanExi		HS_CECR2

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BXF3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BXF3 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA002943

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Part of the CECR2-containing remodeling factor (CERF) complex which contains CECR2 and SMARCA1 (PubMed:15640247). Interacts with acetylated lysine residues on histone H2A and H3 (in vitro) (PubMed:26365797, PubMed:22464331). Interacts with LRPPRC (PubMed:11827465).4 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		118176, 5 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-446 CERF complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9BXF3

Protein interaction database and analysis system

More...IntActi		Q9BXF3, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000262608

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q9BXF3

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11484
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q9BXF3

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9BXF3

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9BXF3

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini451 – 521BromoPROSITE-ProRule annotationAdd BLAST71

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi333 – 337Poly-Glu5
Compositional biasi611 – 614Poly-Ser4
Compositional biasi1250 – 1253Poly-Pro4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The Bromo domain recognizes and binds acetylated histones (PubMed:22464331). Also recognizes and binds histones that are butyrylated (PubMed:26365797).2 Publications

Keywords - Domaini

Bromodomain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1472 Eukaryota
COG5076 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160360

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000081808

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG081078

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BXF3

Identification of Orthologs from Complete Genome Data

More...OMAi		NHGATNP

Database of Orthologous Groups

More...OrthoDBi		EOG091G00ZX

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BXF3

TreeFam database of animal gene trees

More...TreeFami		TF324727

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.920.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001487 Bromodomain
IPR036427 Bromodomain-like_sf
IPR018359 Bromodomain_CS
IPR029614 CECR2

The PANTHER Classification System

More...PANTHERi		PTHR22880:SF123 PTHR22880:SF123, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00439 Bromodomain, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00503 BROMODOMAIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00297 BROMO, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47370 SSF47370, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00633 BROMODOMAIN_1, 1 hit
PS50014 BROMODOMAIN_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: Q9BXF3-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MCPEEGGAAG LGELRSWWEV PAIAHFCSLF RTAFRLPDFE IEELEAALHR 
        60         70         80         90        100
DDVEFISDLI ACLLQGCYQR RDITPQTFHS YLEDIINYRW ELEEGKPNPL 
       110        120        130        140        150
REASFQDLPL RTRVEILHRL CDYRLDADDV FDLLKGLDAD SLRVEPLGED 
       160        170        180        190        200
NSGALYWYFY GTRMYKEDPV QGKSNGELSL SRESEGQKNV SSIPGKTGKR 
       210        220        230        240        250
RGRPPKRKKL QEEILLSEKQ EENSLASEPQ TRHGSQGPGQ GTWWLLCQTE 
       260        270        280        290        300
EEWRQVTESF RERTSLRERQ LYKLLSEDFL PEICNMIAQK GKRPQRTKAE 
       310        320        330        340        350
LHPRWMSDHL SIKPVKQEET PVLTRIEKQK RKEEEEERQI LLAVQKKEQE 
       360        370        380        390        400
QMLKEERKRE LEEKVKAVEG MCSVRVVWRG ACLSTSRPVD RAKRRKLREE 
       410        420        430        440        450
RAWLLAQGKE LPPELSHLDP NSPMREEKKT KDLFELDDDF TAMYKVLDVV 
       460        470        480        490        500
KAHKDSWPFL EPVDESYAPN YYQIIKAPMD ISSMEKKLNG GLYCTKEEFV 
       510        520        530        540        550
NDMKTMFRNC RKYNGESSEY TKMSDNLERC FHRAMMKHFP GEDGDTDEEF 
       560        570        580        590        600
WIREDEKREK RRSRAGRSGG SHVWTRSRDP EGSSRKQQPM ENGGKSLPPT 
       610        620        630        640        650
RRAPSSGDDQ SSSSTQPPRE VGTSNGRGFS HPLHCGGTPS QAPFLNQMRP 
       660        670        680        690        700
AVPGTFGPLR GSDPATLYGS SGVPEPHPGE PVQQRQPFTM QPPVGINSLR 
       710        720        730        740        750
GPRLGTPEEK QMCGGLTHLS NMGPHPGSLQ LGQISGPSQD GSMYAPAQFQ 
       760        770        780        790        800
PGFIPPRHGG APARPPDFPE SSEIPPSHMY RSYKYLNRVH SAVWNGNHGA 
       810        820        830        840        850
TNQGPLGPDE KPHLGPGPSH QPRTLGHVMD SRVMRPPVPP NQWTEQSGFL 
       860        870        880        890        900
PHGVPSSGYM RPPCKSAGHR LQPPPVPAPS SLFGAPAQAL RGVQGGDSMM 
       910        920        930        940        950
DSPEMIAMQQ LSSRVCPPGV PYHPHQPAHP RLPGPFPQVA HPMSVTVSAP 
       960        970        980        990       1000
KPALGNPGRA PENSEAQEPE NDQAEPLPGL EEKPPGVGTS EGVYLTQLPH 
      1010       1020       1030       1040       1050
PTPPLQTDCT RQSSPQERET VGPELKSSSS ESADNCKAMK GKNPWPSDSS 
      1060       1070       1080       1090       1100
YPGPAAQGCV RDLSTVADRG ALSENGVIGE ASPCGSEGKG LGSSGSEKLL 
      1110       1120       1130       1140       1150
CPRGRTLQET MPCTGQNAAT PPSTDPGLTG GTVSQFPPLY MPGLEYPNSA 
      1160       1170       1180       1190       1200
AHYHISPGLQ GVGPVMGGKS PASHPQHFPP RGFQSNHPHS GGFPRYRPPQ 
      1210       1220       1230       1240       1250
GMRYSYHPPP QPSYHHYQRT PYYACPQSFS DWQRPLHPQG SPSGPPASQP 
      1260       1270       1280       1290       1300
PPPRSLFSDK NAMASLQGCE TLNAALTSPT RMDAVAAKVP NDGQNPGPEE 
      1310       1320       1330       1340       1350
EKLDESMERP ESPKEFLDLD NHNAATKRQS SLSASEYLYG TPPPLSSGMG 
      1360       1370       1380       1390       1400
FGSSAFPPHS VMLQTGPPYT PQRPASHFQP RAYSSPVAAL PPHHPGATQP 
      1410       1420       1430       1440       1450
NGLSQEGPIY RCQEEGLGHF QAVMMEQIGT RSGIRGPFQE MYRPSGMQMH 
      1460       1470       1480 
PVQSQASFPK TPTAATSQEE VPPHKPPTLP LDQS
Length:1,484
Mass (Da):164,213
Last modified:September 5, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8680DB16A0B90D0D
GO
Isoform B (identifier: Q9BXF3-2) [UniParc]FASTAAdd to basket
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.

Show »
Length:498
Mass (Da):58,108
Checksum:i40A2A890E9B5B9D6
GO
Isoform C (identifier: Q9BXF3-3) [UniParc]FASTAAdd to basket

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

Show »
Length:1,464
Mass (Da):162,067
Checksum:i3321852BA97D5481
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7WPH3B7WPH3_HUMAN
Cat eye syndrome critical region pr...
CECR2
1,300Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WT21A0A087WT21_HUMAN
Cat eye syndrome critical region pr...
CECR2
1,442Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0R4J2E1A0A0R4J2E1_HUMAN
Cat eye syndrome critical region pr...
CECR2
1,301Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y2Z1H0Y2Z1_HUMAN
Cat eye syndrome critical region pr...
CECR2
218Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAH56122 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH56212 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence EAW57756 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti352M → I in CAH56122 (PubMed:17974005).Curated1
Sequence conflicti352M → I in CAH56212 (PubMed:17974005).Curated1
Sequence conflicti1029S → C in AAK15343 (PubMed:11381032).Curated1
Sequence conflicti1045W → R in AAK15343 (PubMed:11381032).Curated1
Sequence conflicti1441M → T in CAH56122 (PubMed:17974005).Curated1
Sequence conflicti1441M → T in CAH56212 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_027411293R → H. Corresponds to variant dbSNP:rs5747211Ensembl.1
Natural variantiVAR_027412674P → L2 PublicationsCorresponds to variant dbSNP:rs1296794Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_000571291 – 318Missing in isoform B. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_020407370 – 389Missing in isoform C. 2 PublicationsAdd BLAST20
Alternative sequenceiVSP_000572519 – 526EYTKMSDN → GKQGRSLC in isoform B. 1 Publication8
Alternative sequenceiVSP_000573527 – 1484Missing in isoform B. 1 PublicationAdd BLAST958

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
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

NCBI Reference Sequences

More...RefSeqi		NP_001276975.1, NM_001290046.1
NP_001276976.1, NM_001290047.1 [Q9BXF3-3]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.231895
Hs.658723

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000342247; ENSP00000341219; ENSG00000099954 [Q9BXF3-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		27443

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:27443

UCSC genome browser

More...UCSCi		uc062bgi.1 human [Q9BXF3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
RefSeqiNP_001276975.1, NM_001290046.1
NP_001276976.1, NM_001290047.1 [Q9BXF3-3]
UniGeneiHs.231895
Hs.658723

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3NXBX-ray1.83A/B424-538[»]
5V84X-ray2.70A/B/C/D424-538[»]
ProteinModelPortaliQ9BXF3
SMRiQ9BXF3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118176, 5 interactors
ComplexPortaliCPX-446 CERF complex
CORUMiQ9BXF3
IntActiQ9BXF3, 1 interactor
STRINGi9606.ENSP00000262608

Chemistry databases

BindingDBiQ9BXF3
ChEMBLiCHEMBL3108639
GuidetoPHARMACOLOGYi2733

PTM databases

iPTMnetiQ9BXF3
PhosphoSitePlusiQ9BXF3

Polymorphism and mutation databases

BioMutaiCECR2
DMDMi114152782

Proteomic databases

EPDiQ9BXF3
PaxDbiQ9BXF3
PeptideAtlasiQ9BXF3
PRIDEiQ9BXF3
ProteomicsDBi79417
79418 [Q9BXF3-2]
79419 [Q9BXF3-3]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		27443
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342247; ENSP00000341219; ENSG00000099954 [Q9BXF3-1]
GeneIDi27443
KEGGihsa:27443
UCSCiuc062bgi.1 human [Q9BXF3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		27443
DisGeNETi27443
EuPathDBiHostDB:ENSG00000099954.18

GeneCards: human genes, protein and diseases

More...GeneCardsi		CECR2

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0023032
HGNCiHGNC:1840 CECR2
HPAiHPA002943
MIMi607576 gene
neXtProtiNX_Q9BXF3
OpenTargetsiENSG00000099954
PharmGKBiPA26383

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1472 Eukaryota
COG5076 LUCA
GeneTreeiENSGT00940000160360
HOGENOMiHOG000081808
HOVERGENiHBG081078
InParanoidiQ9BXF3
OMAiNHGATNP
OrthoDBiEOG091G00ZX
PhylomeDBiQ9BXF3
TreeFamiTF324727

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CECR2 human
EvolutionaryTraceiQ9BXF3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		27443

Protein Ontology

More...PROi		PR:Q9BXF3

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000099954 Expressed in 147 organ(s), highest expression level in gastrocnemius
CleanExiHS_CECR2
ExpressionAtlasiQ9BXF3 baseline and differential
GenevisibleiQ9BXF3 HS

Family and domain databases

Gene3Di1.20.920.10, 1 hit
InterProiView protein in InterPro
IPR001487 Bromodomain
IPR036427 Bromodomain-like_sf
IPR018359 Bromodomain_CS
IPR029614 CECR2
PANTHERiPTHR22880:SF123 PTHR22880:SF123, 1 hit
PfamiView protein in Pfam
PF00439 Bromodomain, 1 hit
PRINTSiPR00503 BROMODOMAIN
SMARTiView protein in SMART
SM00297 BROMO, 1 hit
SUPFAMiSSF47370 SSF47370, 1 hit
PROSITEiView protein in PROSITE
PS00633 BROMODOMAIN_1, 1 hit
PS50014 BROMODOMAIN_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCECR2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BXF3
Secondary accession number(s): A8MS90
, A8MX16, Q658Z4, Q96P58, Q9C0C3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: September 5, 2006
Last modified: December 5, 2018
This is version 148 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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