T-box transcription factor TBX5

<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

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

• DNA binding Source: UniProtKB <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
  • "A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome."
    Murakami M., Nakagawa M., Olson E.N., Nakagawa O.
    Proc Natl Acad Sci U S A 102:18034-18039(2005) [PubMed] [Europe PMC] [Abstract]
• DNA-binding transcription activator activity, RNA polymerase II-specific Source: BHF-UCL
• DNA-binding transcription factor activity Source: UniProtKBInferred from direct assayⁱ
  • "Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation."
    Hiroi Y., Kudoh S., Monzen K., Ikeda Y., Yazaki Y., Nagai R., Komuro I.
    Nat Genet 28:276-280(2001) [PubMed] [Europe PMC] [Abstract]
  • "Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome."
    Fan C., Liu M., Wang Q.
    J Biol Chem 278:8780-8785(2003) [PubMed] [Europe PMC] [Abstract]
  • "A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome."
    Murakami M., Nakagawa M., Olson E.N., Nakagawa O.
    Proc Natl Acad Sci U S A 102:18034-18039(2005) [PubMed] [Europe PMC] [Abstract]
• DNA-binding transcription factor activity, RNA polymerase II-specific Source: UniProtKBInferred from direct assayⁱ
  • Ref.13

    "Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development."
    Ghosh T.K., Aparicio-Sanchez J.J., Buxton S., Ketley A., Mohamed T., Rutland C.S., Loughna S., Brook J.D.
    J. Mol. Cell. Cardiol. 114:185-198(2017) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBCELLULAR LOCATION, ACETYLATION AT LYS-339, MUTAGENESIS OF LYS-234; LYS-325; LYS-327; LYS-339 AND LYS-340.
• RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: UniProtKBInferred from direct assayⁱ
  • Ref.15

    "Intermolecular interactions of cardiac transcription factors NKX2.5 and TBX5."
    Pradhan L., Gopal S., Li S., Ashur S., Suryanarayanan S., Kasahara H., Nam H.J.
    Biochemistry 55:1702-1710(2016) [PubMed] [Europe PMC] [Abstract]

    Cited for: X-RAY CRYSTALLOGRAPHY (2.58 ANGSTROMS) OF 1-239 OF HOMODIMER AND DNA, X-RAY CRYSTALLOGRAPHY (2.82 ANGSTROMS) OF 53-238 IN COMPLEX WITH NKX2-5 AND DNA, INTERACTION WITH NKX2-5, DNA-BINDING.
• RNA polymerase II-specific DNA-binding transcription factor binding Source: BHF-UCL <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
  • "Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation."
    Hiroi Y., Kudoh S., Monzen K., Ikeda Y., Yazaki Y., Nagai R., Komuro I.
    Nat Genet 28:276-280(2001) [PubMed] [Europe PMC] [Abstract]
• sequence-specific DNA binding Source: UniProtKBInferred from direct assayⁱ
  • "Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation."
    Hiroi Y., Kudoh S., Monzen K., Ikeda Y., Yazaki Y., Nagai R., Komuro I.
    Nat Genet 28:276-280(2001) [PubMed] [Europe PMC] [Abstract]
  • "Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome."
    Fan C., Liu M., Wang Q.
    J Biol Chem 278:8780-8785(2003) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• atrial septum morphogenesis Source: Ensembl
• atrioventricular bundle cell differentiation Source: BHF-UCL
• atrioventricular node cell development Source: BHF-UCL
• atrioventricular node cell fate commitment Source: BHF-UCL
• atrioventricular valve morphogenesis Source: Ensembl
• bundle of His cell to Purkinje myocyte communication by electrical coupling Source: BHF-UCL
• bundle of His development Source: BHF-UCL
• cardiac left ventricle formation Source: BHF-UCL
• cell-cell signaling Source: UniProtKBInferred from direct assayⁱ
  • "TBX5 transcription factor regulates cell proliferation during cardiogenesis."
    Hatcher C.J., Kim M.S., Mah C.S., Goldstein M.M., Wong B., Mikawa T., Basson C.T.
    Dev Biol 230:177-188(2001) [PubMed] [Europe PMC] [Abstract]
• cell-cell signaling involved in cardiac conduction Source: BHF-UCL
• cell fate specification Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• cell migration involved in coronary vasculogenesis Source: DFLAT <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
  • "Epicardial-myocardial signaling directing coronary vasculogenesis."
    Olivey H.E., Svensson E.C.
    Circ Res 106:818-832(2010) [PubMed] [Europe PMC] [Abstract]
• embryonic forelimb morphogenesis Source: UniProtKB <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
  • "TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome."
    McDermott D.A., Bressan M.C., He J., Lee J.S., Aftimos S., Brueckner M., Gilbert F., Graham G.E., Hannibal M.C., Innis J.W., Pierpont M.E., Raas-Rothschild A., Shanske A.L., Smith W.E., Spencer R.H., St John-Sutton M.G., van Maldergem L., Waggoner D.J., Weber M., Basson C.T.
    Pediatr Res 58:981-986(2005) [PubMed] [Europe PMC] [Abstract]
• embryonic limb morphogenesis Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.1

    "Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family."
    Li Q.Y., Newbury-Ecob R., Terrett J.A., Wilson D.I., Curtis A., Yi C.H., Bullen P.J., Strachan T., Robson S., Bonnet D., Young I.E., Raeburn J.A., Buckler A.J., Gebuhr T., Law D.J., Brook J.D.
    Nat. Genet. 15:21-29(1997) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INVOLVEMENT IN HOS.
• endocardial cushion development Source: Ensembl
• forelimb morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • Ref.1

    "Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family."
    Li Q.Y., Newbury-Ecob R., Terrett J.A., Wilson D.I., Curtis A., Yi C.H., Bullen P.J., Strachan T., Robson S., Bonnet D., Young I.E., Raeburn J.A., Buckler A.J., Gebuhr T., Law D.J., Brook J.D.
    Nat. Genet. 15:21-29(1997) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INVOLVEMENT IN HOS.
  • Ref.2

    "Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome."
    Basson C.T., Bachinsky D.R., Lin R.C., Levi T., Elkins J.A., Soults J., Grayzel D., Kroumpouzou E., Traill T.A., Leblanc-Straceski J., Renault B., Kucherlapati R., Seidman J.G., Seidman C.E.
    Nat. Genet. 15:30-35(1997) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING, VARIANT HOS GLN-237.
• heart development Source: UniProtKBInferred from direct assayⁱ
  • "A role for Tbx5 in proepicardial cell migration during cardiogenesis."
    Hatcher C.J., Diman N.Y., Kim M.S., Pennisi D., Song Y., Goldstein M.M., Mikawa T., Basson C.T.
    Physiol Genomics 18:129-140(2004) [PubMed] [Europe PMC] [Abstract]
• lung development Source: Ensembl
• morphogenesis of an epithelium Source: Ensembl
• negative regulation of cardiac muscle cell proliferation Source: UniProtKBInferred from direct assayⁱ
  • "TBX5 transcription factor regulates cell proliferation during cardiogenesis."
    Hatcher C.J., Kim M.S., Mah C.S., Goldstein M.M., Wong B., Mikawa T., Basson C.T.
    Dev Biol 230:177-188(2001) [PubMed] [Europe PMC] [Abstract]
• negative regulation of cell migration Source: UniProtKBInferred from direct assayⁱ
  • "A role for Tbx5 in proepicardial cell migration during cardiogenesis."
    Hatcher C.J., Diman N.Y., Kim M.S., Pennisi D., Song Y., Goldstein M.M., Mikawa T., Basson C.T.
    Physiol Genomics 18:129-140(2004) [PubMed] [Europe PMC] [Abstract]
• negative regulation of cell population proliferation Source: UniProtKBInferred from direct assayⁱ
  • "TBX5 transcription factor regulates cell proliferation during cardiogenesis."
    Hatcher C.J., Kim M.S., Mah C.S., Goldstein M.M., Wong B., Mikawa T., Basson C.T.
    Dev Biol 230:177-188(2001) [PubMed] [Europe PMC] [Abstract]
  • "Induction of apoptosis and inhibition of cell growth by developmental regulator hTBX5."
    He M.L., Chen Y., Peng Y., Jin D., Du D., Wu J., Lu P., Lin M.C., Kung H.F.
    Biochem Biophys Res Commun 297:185-192(2002) [PubMed] [Europe PMC] [Abstract]
• negative regulation of epithelial to mesenchymal transition Source: DFLATTraceable author statementⁱ
  • "Epicardial-myocardial signaling directing coronary vasculogenesis."
    Olivey H.E., Svensson E.C.
    Circ Res 106:818-832(2010) [PubMed] [Europe PMC] [Abstract]
• pattern specification process Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• pericardium development Source: UniProtKBInferred from direct assayⁱ
  • "A role for Tbx5 in proepicardial cell migration during cardiogenesis."
    Hatcher C.J., Diman N.Y., Kim M.S., Pennisi D., Song Y., Goldstein M.M., Mikawa T., Basson C.T.
    Physiol Genomics 18:129-140(2004) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cardiac conduction Source: BHF-UCL
• positive regulation of cardiac muscle cell proliferation Source: Ensembl
• positive regulation of cardioblast differentiation Source: UniProtKBInferred from direct assayⁱ
  • "Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation."
    Hiroi Y., Kudoh S., Monzen K., Ikeda Y., Yazaki Y., Nagai R., Komuro I.
    Nat Genet 28:276-280(2001) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCLTraceable author statementⁱ
  • "The T-Box transcription factor Tbx5 is required for the patterning and maturation of the murine cardiac conduction system."
    Moskowitz I.P., Pizard A., Patel V.V., Bruneau B.G., Kim J.B., Kupershmidt S., Roden D., Berul C.I., Seidman C.E., Seidman J.G.
    Development 131:4107-4116(2004) [PubMed] [Europe PMC] [Abstract]
• positive regulation of gap junction assembly Source: BHF-UCL
• positive regulation of secondary heart field cardioblast proliferation Source: Ensembl
• positive regulation of transcription, DNA-templated Source: UniProtKBInferred from direct assayⁱ
  • "Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation."
    Hiroi Y., Kudoh S., Monzen K., Ikeda Y., Yazaki Y., Nagai R., Komuro I.
    Nat Genet 28:276-280(2001) [PubMed] [Europe PMC] [Abstract]
  • "Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome."
    Fan C., Liu M., Wang Q.
    J Biol Chem 278:8780-8785(2003) [PubMed] [Europe PMC] [Abstract]
  • "GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5."
    Garg V., Kathiriya I.S., Barnes R., Schluterman M.K., King I.N., Butler C.A., Rothrock C.R., Eapen R.S., Hirayama-Yamada K., Joo K., Matsuoka R., Cohen J.C., Srivastava D.
    Nature 424:443-447(2003) [PubMed] [Europe PMC] [Abstract]
  • "A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome."
    Murakami M., Nakagawa M., Olson E.N., Nakagawa O.
    Proc Natl Acad Sci U S A 102:18034-18039(2005) [PubMed] [Europe PMC] [Abstract]
  • Ref.19

    "TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome."
    Guo D.F., Li R.G., Yuan F., Shi H.Y., Hou X.M., Qu X.K., Xu Y.J., Zhang M., Liu X., Jiang J.Q., Yang Y.Q., Qiu X.B.
    Mol. Med. Report. 13:4349-4356(2016) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT SER-132, INVOLVEMENT IN AF, CHARACTERIZATION OF VARIANT SER-132, FUNCTION.
• positive regulation of transcription by RNA polymerase II Source: UniProtKBInferred from direct assayⁱ
  • Ref.13

    "Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development."
    Ghosh T.K., Aparicio-Sanchez J.J., Buxton S., Ketley A., Mohamed T., Rutland C.S., Loughna S., Brook J.D.
    J. Mol. Cell. Cardiol. 114:185-198(2017) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBCELLULAR LOCATION, ACETYLATION AT LYS-339, MUTAGENESIS OF LYS-234; LYS-325; LYS-327; LYS-339 AND LYS-340.
• regulation of atrial cardiac muscle cell membrane depolarization Source: BHF-UCL
• regulation of transcription by RNA polymerase II Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• ventricular septum development 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

• UniProt annotation
• GO - Cellular component

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

Mutagenesis

Keywords - Diseaseⁱ

Organism-specific databases

Miscellaneous databases

Chemistry databases

Genetic variation 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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationⁱ

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%5Fsection">'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%5Fsection">'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%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

GO - Molecular functionⁱ

• RNA polymerase II-specific DNA-binding transcription factor binding Source: BHF-UCLInferred from physical interactionⁱ
  • "Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation."
    Hiroi Y., Kudoh S., Monzen K., Ikeda Y., Yazaki Y., Nagai R., Komuro I.
    Nat Genet 28:276-280(2001) [PubMed] [Europe PMC] [Abstract]

Protein-protein interaction databases

Miscellaneous 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

Region

Compositional bias

<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

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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

        10         20         30         40         50
MADADEGFGL AHTPLEPDAK DLPCDSKPES ALGAPSKSPS SPQAAFTQQG 
        60         70         80         90        100
MEGIKVFLHE RELWLKFHEV GTEMIITKAG RRMFPSYKVK VTGLNPKTKY 
       110        120        130        140        150
ILLMDIVPAD DHRYKFADNK WSVTGKAEPA MPGRLYVHPD SPATGAHWMR 
       160        170        180        190        200
QLVSFQKLKL TNNHLDPFGH IILNSMHKYQ PRLHIVKADE NNGFGSKNTA 
       210        220        230        240        250
FCTHVFPETA FIAVTSYQNH KITQLKIENN PFAKGFRGSD DMELHRMSRM 
       260        270        280        290        300
QSKEYPVVPR STVRQKVASN HSPFSSESRA LSTSSNLGSQ YQCENGVSGP 
       310        320        330        340        350
SQDLLPPPNP YPLPQEHSQI YHCTKRKEEE CSTTDHPYKK PYMETSPSEE 
       360        370        380        390        400
DSFYRSSYPQ QQGLGASYRT ESAQRQACMY ASSAPPSEPV PSLEDISCNT 
       410        420        430        440        450
WPSMPSYSSC TVTTVQPMDR LPYQHFSAHF TSGPLVPRLA GMANHGSPQL 
       460        470        480        490        500
GEGMFQHQTS VAHQPVVRQC GPQTGLQSPG TLQPPEFLYS HGVPRTLSPH 
       510 
QYHSVHGVGM VPEWSDNS                                    

        10         20         30         40         50
MADADEGFGL AHTPLEPDAK DLPCDSKPES ALGAPSKSPS SPQAAFTQQG 
        60         70         80         90        100
MEGIKVFLHE RELWLKFHEV GTEMIITKAG RRMFPSYKVK VTGLNPKTKY 
       110        120        130        140        150
ILLMDIVPAD DHRYKFADNK WSVTGKAEPA MPGRLYVHPD SPATGAHWMR 
       160        170        180        190        200
QLVSFQKLKL TNNHLDPFGH IILNSMHKYQ PRLHIVKADE NNGFGSKNTA 
       210        220        230        240        250
FCTHVFPETA FIAVTSYQNH KITQLKIENN PFAKGFRGSD DMELHRMSRM 
       260        270        280        290        300
QSKEYPVVPR STVRQKVASN HSPFSSESRA LSTSSNLGSQ YQCENGVSGP 
       310        320        330        340 
SQDLLPPPNP YPLPQEHSQI YHCTKRKGEC DHPWSICFLS YLFLSLGWG  

        10         20         30         40         50
MEGIKVFLHE RELWLKFHEV GTEMIITKAG RRMFPSYKVK VTGLNPKTKY 
        60         70         80         90        100
ILLMDIVPAD DHRYKFADNK WSVTGKAEPA MPGRLYVHPD SPATGAHWMR 
       110        120        130        140        150
QLVSFQKLKL TNNHLDPFGH IILNSMHKYQ PRLHIVKADE NNGFGSKNTA 
       160        170        180        190        200
FCTHVFPETA FIAVTSYQNH KITQLKIENN PFAKGFRGSD DMELHRMSRM 
       210        220        230        240        250
QSKEYPVVPR STVRQKVASN HSPFSSESRA LSTSSNLGSQ YQCENGVSGP 
       260        270        280        290        300
SQDLLPPPNP YPLPQEHSQI YHCTKRKEEE CSTTDHPYKK PYMETSPSEE 
       310        320        330        340        350
DSFYRSSYPQ QQGLGASYRT ESAQRQACMY ASSAPPSEPV PSLEDISCNT 
       360        370        380        390        400
WPSMPSYSSC TVTTVQPMDR LPYQHFSAHF TSGPLVPRLA GMANHGSPQL 
       410        420        430        440        450
GEGMFQHQTS VAHQPVVRQC GPQTGLQSPG TLQPPEFLYS HGVPRTLSPH 
       460 
QYHSVHGVGM VPEWSDNS                                    

<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 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

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Genetic variation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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

Documents

1. Human chromosome 12
   Human chromosome 12: entries, gene names and cross-references to MIM
2. Human entries with genetic variants
   List of human entries with genetic variants
3. Human variants curated from literature reports
   Index of human variants curated from literature reports
4. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
5. PDB cross-references
   Index of Protein Data Bank (PDB) cross-references