Recombining binding protein suppressor of hairless

<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

Caution

Regions

<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 - Molecular functionⁱ

• chromatin binding Source: Ensembl
• DNA binding Source: UniProtKB <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ
  • 9874765
• DNA-binding transcription factor activity Source: UniProtKBTraceable author statementⁱ
  • 9874765
• protein N-terminus binding Source: Ensembl
• recombinase activity Source: UniProtKB <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#nas">GO evidence code guide</a></p> Non-traceable author statementⁱ
  • 8406481
• repressing transcription factor binding Source: CAFA <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • 16691198
• RNA polymerase II proximal promoter sequence-specific DNA binding Source: CAFA <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • 16691198
• RNA polymerase II repressing transcription factor binding Source: BHF-UCLInferred from physical interactionⁱ
  • 16287852
• RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
• sequence-specific DNA binding Source: UniProtKBInferred from direct assayⁱ
  • 23303788
• transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: MGIInferred from direct assayⁱ
  • 18663143
• transcription factor binding Source: UniProtKBInferred from direct assayⁱ
  • 23303788

GO - Biological processⁱ

• angiogenesis Source: BHF-UCL
• aortic valve development Source: Ensembl
• arterial endothelial cell fate commitment Source: Ensembl
• atrioventricular canal development Source: BHF-UCL
• auditory receptor cell fate commitment Source: Ensembl
• B cell differentiation Source: Ensembl
• blood vessel endothelial cell fate specification Source: BHF-UCL
• blood vessel lumenization Source: BHF-UCL
• blood vessel remodeling Source: Ensembl
• cardiac left ventricle morphogenesis Source: BHF-UCL
• Clara cell differentiation Source: Ensembl
• defense response to bacterium Source: Ensembl
• DNA recombination Source: UniProtKBNon-traceable author statementⁱ
  • 8406481
• dorsal aorta morphogenesis Source: BHF-UCL
• endocardium morphogenesis Source: BHF-UCL
• epidermal cell fate specification Source: Ensembl
• epithelial to mesenchymal transition Source: BHF-UCL
• epithelial to mesenchymal transition involved in endocardial cushion formation Source: BHF-UCL
• hair follicle maturation Source: Ensembl
• humoral immune response Source: Ensembl
• inflammatory response to antigenic stimulus Source: Ensembl
• interleukin-4 secretion Source: Ensembl
• keratinocyte differentiation Source: Ensembl
• labyrinthine layer blood vessel development Source: BHF-UCL
• myeloid dendritic cell differentiation Source: Ensembl
• negative regulation of cell differentiation Source: Ensembl
• negative regulation of cell proliferation Source: Ensembl
• negative regulation of cold-induced thermogenesis Source: YuBioLab <p>Inferred from Sequence or Structural Similarity <br />Used for any analysis based on sequence alignment, structure comparison, or evaluation of sequence features such as composition.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iss">GO evidence code guide</a></p> Inferred from sequence or structural similarityⁱ
  • 25038826
• negative regulation of ossification Source: BHF-UCL
• negative regulation of transcription, DNA-templated Source: UniProtKBInferred from direct assayⁱ
  • 10713164
• negative regulation of transcription by RNA polymerase II Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • 18663143
• Notch signaling involved in heart development Source: BHF-UCL <p>Inferred by Curator</p> <p>Used for cases where an annotation is not supported by any evidence but can be reasonably inferred by a curator from other GO annotations for which evidence <br />is available.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ic">GO evidence code guide</a></p> Inferred by curatorⁱ
  • 21311046
• Notch signaling pathway Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 18663143
• outflow tract morphogenesis Source: BHF-UCL
• pituitary gland development Source: Ensembl
• positive regulation of BMP signaling pathway Source: BHF-UCL
• positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment Source: Ensembl
• positive regulation of cardiac muscle cell proliferation Source: BHF-UCL
• positive regulation of cell proliferation involved in heart morphogenesis Source: BHF-UCL
• positive regulation of ephrin receptor signaling pathway Source: BHF-UCL
• positive regulation of ERBB signaling pathway Source: BHF-UCL
• positive regulation of gene expression Source: BHF-UCL
• positive regulation of Notch signaling pathway Source: Reactome
• positive regulation of transcription by RNA polymerase II Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 18663143
  • 20890042
• positive regulation of transcription from RNA polymerase II promoter in response to hypoxia Source: UniProtKBInferred from direct assayⁱ
  • 23303788
• positive regulation of transcription of Notch receptor target Source: UniProtKBInferred from direct assayⁱ
  • 21102556
• pulmonary valve development Source: Ensembl
• regulation of timing of cell differentiation Source: Ensembl
• regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation Source: BHF-UCL
• sebaceous gland development Source: Ensembl
• secondary heart field specification Source: Ensembl
• somatic stem cell population maintenance Source: Ensembl
• somitogenesis Source: Ensembl
• transcription initiation from RNA polymerase II promoter Source: Reactome
• ventricular septum morphogenesis Source: Ensembl
• ventricular trabecula myocardium morphogenesis Source: BHF-UCL

<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

Enzyme and pathway databases

<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

Organism-specific databases

<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

Keywords - Cellular componentⁱ

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Keywords - Diseaseⁱ

Organism-specific databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMⁱ

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

GO - Molecular functionⁱ

• protein N-terminus binding Source: Ensembl
• repressing transcription factor binding Source: CAFAInferred from physical interactionⁱ
  • 16691198
• RNA polymerase II repressing transcription factor binding Source: BHF-UCLInferred from physical interactionⁱ
  • 16287852
• transcription factor binding Source: UniProtKBInferred from direct assayⁱ
  • 23303788

Protein-protein interaction databases

Chemistry databases

<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

3D structure databases

Miscellaneous databases

<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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<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 (7+)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 has 7 described isoforms and 16 potential isoforms that are <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.ⁱShow all

        10         20         30         40         50
MDHTEGSPAE EPPAHAPSPG KFGERPPPKR LTREAMRNYL KERGDQTVLI 
        60         70         80         90        100
LHAKVAQKSY GNEKRFFCPP PCVYLMGSGW KKKKEQMERD GCSEQESQPC 
       110        120        130        140        150
AFIGIGNSDQ EMQQLNLEGK NYCTAKTLYI SDSDKRKHFM LSVKMFYGNS 
       160        170        180        190        200
DDIGVFLSKR IKVISKPSKK KQSLKNADLC IASGTKVALF NRLRSQTVST 
       210        220        230        240        250
RYLHVEGGNF HASSQQWGAF FIHLLDDDES EGEEFTVRDG YIHYGQTVKL 
       260        270        280        290        300
VCSVTGMALP RLIIRKVDKQ TALLDADDPV SQLHKCAFYL KDTERMYLCL 
       310        320        330        340        350
SQERIIQFQA TPCPKEPNKE MINDGASWTI ISTDKAEYTF YEGMGPVLAP 
       360        370        380        390        400
VTPVPVVESL QLNGGGDVAM LELTGQNFTP NLRVWFGDVE AETMYRCGES 
       410        420        430        440        450
MLCVVPDISA FREGWRWVRQ PVQVPVTLVR NDGIIYSTSL TFTYTPEPGP 
       460        470        480        490        500
RPHCSAAGAI LRANSSQVPP NESNTNSEGS YTNASTNSTS VTSSTATVVS 

        10         20         30         40         50
MGSGWKKKKE QMERDGCSEQ ESQPCAFIGI GNSDQEMQQL NLEGKNYCTA 
        60         70         80         90        100
KTLYISDSDK RKHFMLSVKM FYGNSDDIGV FLSKRIKVIS KPSKKKQSLK 
       110        120        130        140        150
NADLCIASGT KVALFNRLRS QTVSTRYLHV EGGNFHASSQ QWGAFFIHLL 
       160        170        180        190        200
DDDESEGEEF TVRDGYIHYG QTVKLVCSVT GMALPRLIIR KVDKQTALLD 
       210        220        230        240        250
ADDPVSQLHK CAFYLKDTER MYLCLSQERI IQFQATPCPK EPNKEMINDG 
       260        270        280        290        300
ASWTIISTDK AEYTFYEGMG PVLAPVTPVP VVESLQLNGG GDVAMLELTG 
       310        320        330        340        350
QNFTPNLRVW FGDVEAETMY RCGESMLCVV PDISAFREGW RWVRQPVQVP 
       360        370        380        390        400
VTLVRNDGII YSTSLTFTYT PEPGPRPHCS AAGAILRANS SQVPPNESNT 
       410        420 
NSEGSYTNAS TNSTSVTSST ATVVS                            

        10         20         30         40         50
MAWIKRESQP CAFIGIGNSD QEMQQLNLEG KNYCTAKTLY ISDSDKRKHF 
        60         70         80         90        100
MLSVKMFYGN SDDIGVFLSK RIKVISKPSK KKQSLKNADL CIASGTKVAL 
       110        120        130        140        150
FNRLRSQTVS TRYLHVEGGN FHASSQQWGA FFIHLLDDDE SEGEEFTVRD 
       160        170        180        190        200
GYIHYGQTVK LVCSVTGMAL PRLIIRKVDK QTALLDADDP VSQLHKCAFY 
       210        220        230        240        250
LKDTERMYLC LSQERIIQFQ ATPCPKEPNK EMINDGASWT IISTDKAEYT 
       260        270        280        290        300
FYEGMGPVLA PVTPVPVVES LQLNGGGDVA MLELTGQNFT PNLRVWFGDV 
       310        320        330        340        350
EAETMYRCGE SMLCVVPDIS AFREGWRWVR QPVQVPVTLV RNDGIIYSTS 
       360        370        380        390        400
LTFTYTPEPG PRPHCSAAGA ILRANSSQVP PNESNTNSEG SYTNASTNST 
       410 
SVTSSTATVV S                                           

        10         20         30         40         50
MGGCRKFGER PPPKRLTREA MRNYLKERGD QTVLILHAKV AQKSYGNEKR 
        60         70         80         90        100
FFCPPPCVYL MGSGWKKKKE QMERDGCSEQ ESQPCAFIGI GNSDQEMQQL 
       110        120        130        140        150
NLEGKNYCTA KTLYISDSDK RKHFMLSVKM FYGNSDDIGV FLSKRIKVIS 
       160        170        180        190        200
KPSKKKQSLK NADLCIASGT KVALFNRLRS QTVSTRYLHV EGGNFHASSQ 
       210        220        230        240        250
QWGAFFIHLL DDDESEGEEF TVRDGYIHYG QTVKLVCSVT GMALPRLIIR 
       260        270        280        290        300
KVDKQTALLD ADDPVSQLHK CAFYLKDTER MYLCLSQERI IQFQATPCPK 
       310        320        330        340        350
EPNKEMINDG ASWTIISTDK AEYTFYEGMG PVLAPVTPVP VVESLQLNGG 
       360        370        380        390        400
GDVAMLELTG QNFTPNLRVW FGDVEAETMY RCGESMLCVV PDISAFREGW 
       410        420        430        440        450
RWVRQPVQVP VTLVRNDGII YSTSLTFTYT PEPGPRPHCS AAGAILRANS 
       460        470        480 
SQVPPNESNT NSEGSYTNAS TNSTSVTSST ATVVS                 

        10         20         30         40         50
MRNYLKERGD QTVLILHAKV AQKSYGNEKR FFCPPPCVYL MGSGWKKKKE 
        60         70         80         90        100
QMERDGCSEQ ESQPCAFIGI GNSDQEMQQL NLEGKNYCTA KTLYISDSDK 
       110        120        130        140        150
RKHFMLSVKM FYGNSDDIGV FLSKRIKVIS KPSKKKQSLK NADLCIASGT 
       160        170        180        190        200
KVALFNRLRS QTVSTRYLHV EGGNFHASSQ QWGAFFIHLL DDDESEGEEF 
       210        220        230        240        250
TVRDGYIHYG QTVKLVCSVT GMALPRLIIR KVDKQTALLD ADDPVSQLHK 
       260        270        280        290        300
CAFYLKDTER MYLCLSQERI IQFQATPCPK EPNKEMINDG ASWTIISTDK 
       310        320        330        340        350
AEYTFYEGMG PVLAPVTPVP VVESLQLNGG GDVAMLELTG QNFTPNLRVW 
       360        370        380        390        400
FGDVEAETMY RCGESMLCVV PDISAFREGW RWVRQPVQVP VTLVRNDGII 
       410        420        430        440        450
YSTSLTFTYT PEPGPRPHCS AAGAILRANS SQVPPNESNT NSEGSYTNAS 
       460 
TNSTSVTSST ATVVS                                       

        10         20         30         40         50
MAWIKRKFGE RPPPKRLTRE AMRNYLKERG DQTVLILHAK VAQKSYGNEK 
        60         70         80         90        100
RFFCPPPCVY LMGSGWKKKK EQMERDGCSE QESQPCAFIG IGNSDQEMQQ 
       110        120        130        140        150
LNLEGKNYCT AKTLYISDSD KRKHFMLSVK MFYGNSDDIG VFLSKRIKVI 
       160        170        180        190        200
SKPSKKKQSL KNADLCIASG TKVALFNRLR SQTVSTRYLH VEGGNFHASS 
       210        220        230        240        250
QQWGAFFIHL LDDDESEGEE FTVRDGYIHY GQTVKLVCSV TGMALPRLII 
       260        270        280        290        300
RKVDKQTALL DADDPVSQLH KCAFYLKDTE RMYLCLSQER IIQFQATPCP 
       310        320        330        340        350
KEPNKEMIND GASWTIISTD KAEYTFYEGM GPVLAPVTPV PVVESLQLNG 
       360        370        380        390        400
GGDVAMLELT GQNFTPNLRV WFGDVEAETM YRCGESMLCV VPDISAFREG 
       410        420        430        440        450
WRWVRQPVQV PVTLVRNDGI IYSTSLTFTY TPEPGPRPHC SAAGAILRAN 
       460        470        480 
SSQVPPNESN TNSEGSYTNA STNSTSVTSS TATVVS                

        10         20         30         40         50
MAPVVTGKFG ERPPPKRLTR EAMRNYLKER GDQTVLILHA KVAQKSYGNE 
        60         70         80         90        100
KRFFCPPPCV YLMGSGWKKK KEQMERDGCS EQESQPCAFI GIGNSDQEMQ 
       110        120        130        140        150
QLNLEGKNYC TAKTLYISDS DKRKHFMLSV KMFYGNSDDI GVFLSKRIKV 
       160        170        180        190        200
ISKPSKKKQS LKNADLCIAS GTKVALFNRL RSQTVSTRYL HVEGGNFHAS 
       210        220        230        240        250
SQQWGAFFIH LLDDDESEGE EFTVRDGYIH YGQTVKLVCS VTGMALPRLI 
       260        270        280        290        300
IRKVDKQTAL LDADDPVSQL HKCAFYLKDT ERMYLCLSQE RIIQFQATPC 
       310        320        330        340        350
PKEPNKEMIN DGASWTIIST DKAEYTFYEG MGPVLAPVTP VPVVESLQLN 
       360        370        380        390        400
GGGDVAMLEL TGQNFTPNLR VWFGDVEAET MYRCGESMLC VVPDISAFRE 
       410        420        430        440        450
GWRWVRQPVQ VPVTLVRNDG IIYSTSLTFT YTPEPGPRPH CSAAGAILRA 
       460        470        480 
NSSQVPPNES NTNSEGSYTN ASTNSTSVTS STATVVS               

<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

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityⁱ

<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

• 100% Identity
• 90% Identity
• 50% Identity

<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 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