Myocardin

<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

<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

• histone acetyltransferase binding Source: Ensembl
• histone deacetylase binding Source: Ensembl
• RNA polymerase II-specific DNA-binding transcription factor binding Source: BHF-UCL
• R-SMAD binding Source: Ensembl
• transcription coactivator activity 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%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • "Myocardin-dependent activation of the CArG box-rich smooth muscle gamma-actin gene: preferential utilization of a single CArG element through functional association with the NKX3.1 homeodomain protein."
    Sun Q., Taurin S., Sethakorn N., Long X., Imamura M., Wang D.Z., Zimmer W.E., Dulin N.O., Miano J.M.
    J Biol Chem 284:32582-32590(2009) [PubMed] [Europe PMC] [Abstract]
• transcription factor binding Source: UniProtKB <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%2Dgo%2Devidence%2Dcodes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • Ref.8

    "Phenotypic modulation of smooth muscle cells through interaction of Foxo4 and myocardin."
    Liu Z.-P., Wang Z., Yanagisawa H., Olson E.N.
    Dev. Cell 9:261-270(2005) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH MLLT7.
  • "Myocardin-dependent activation of the CArG box-rich smooth muscle gamma-actin gene: preferential utilization of a single CArG element through functional association with the NKX3.1 homeodomain protein."
    Sun Q., Taurin S., Sethakorn N., Long X., Imamura M., Wang D.Z., Zimmer W.E., Dulin N.O., Miano J.M.
    J Biol Chem 284:32582-32590(2009) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• cardiac muscle cell differentiation Source: BHF-UCL
• cardiac ventricle development Source: Ensembl
• cardiocyte differentiation 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%2Dgo%2Devidence%2Dcodes#nas">GO evidence code guide</a></p> Non-traceable author statementⁱ
  • Ref.2

    "Myocardin is a critical serum response factor cofactor in the transcriptional program regulating smooth muscle cell differentiation."
    Du K.L., Ip H.S., Li J., Chen M., Dandre F., Yu W., Lu M.M., Owens G.K., Parmacek M.S.
    Mol. Cell. Biol. 23:2425-2437(2003) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, TISSUE SPECIFICITY.
• cellular component maintenance Source: Ensembl
• digestive tract development Source: Ensembl
• ductus arteriosus closure Source: Ensembl
• lung alveolus development Source: Ensembl
• negative regulation of amyloid-beta clearance 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%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "SRF and myocardin regulate LRP-mediated amyloid-beta clearance in brain vascular cells."
    Bell R.D., Deane R., Chow N., Long X., Sagare A., Singh I., Streb J.W., Guo H., Rubio A., Van Nostrand W., Miano J.M., Zlokovic B.V.
    Nat Cell Biol 11:143-153(2009) [PubMed] [Europe PMC] [Abstract]
• negative regulation of cardiac muscle cell apoptotic process Source: Ensembl
• negative regulation of cell adhesion molecule production Source: Ensembl
• negative regulation of cell population proliferation Source: BHF-UCLInferred from direct assayⁱ
  • "Myocardin is sufficient for a smooth muscle-like contractile phenotype."
    Long X., Bell R.D., Gerthoffer W.T., Zlokovic B.V., Miano J.M.
    Arterioscler Thromb Vasc Biol 28:1505-1510(2008) [PubMed] [Europe PMC] [Abstract]
• negative regulation of cyclin-dependent protein serine/threonine kinase activity Source: BHF-UCLInferred from direct assayⁱ
  • "Myocardin is sufficient for a smooth muscle-like contractile phenotype."
    Long X., Bell R.D., Gerthoffer W.T., Zlokovic B.V., Miano J.M.
    Arterioscler Thromb Vasc Biol 28:1505-1510(2008) [PubMed] [Europe PMC] [Abstract]
• negative regulation of myotube differentiation Source: Ensembl
• negative regulation of platelet-derived growth factor receptor-beta signaling pathway Source: Ensembl
• negative regulation of skeletal muscle cell differentiation Source: BHF-UCLInferred from direct assayⁱ
  • "Myocardin is sufficient for a smooth muscle-like contractile phenotype."
    Long X., Bell R.D., Gerthoffer W.T., Zlokovic B.V., Miano J.M.
    Arterioscler Thromb Vasc Biol 28:1505-1510(2008) [PubMed] [Europe PMC] [Abstract]
• negative regulation of transcription by RNA polymerase II Source: Ensembl
• negative regulation of vascular associated smooth muscle cell migration Source: Ensembl
• negative regulation of vascular associated smooth muscle cell proliferation Source: Ensembl
• positive regulation of cardiac muscle cell differentiation Source: BHF-UCLInferred from direct assayⁱ
  • "Myocardin is sufficient for a smooth muscle-like contractile phenotype."
    Long X., Bell R.D., Gerthoffer W.T., Zlokovic B.V., Miano J.M.
    Arterioscler Thromb Vasc Biol 28:1505-1510(2008) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cardiac vascular smooth muscle cell differentiation Source: BHF-UCL
• positive regulation of cell population proliferation Source: Ensembl
• positive regulation of DNA binding Source: Ensembl
• positive regulation of DNA-binding transcription factor activity Source: BHF-UCLInferred from direct assayⁱ
  • "SRF and myocardin regulate LRP-mediated amyloid-beta clearance in brain vascular cells."
    Bell R.D., Deane R., Chow N., Long X., Sagare A., Singh I., Streb J.W., Guo H., Rubio A., Van Nostrand W., Miano J.M., Zlokovic B.V.
    Nat Cell Biol 11:143-153(2009) [PubMed] [Europe PMC] [Abstract]
• positive regulation of production of miRNAs involved in gene silencing by miRNA Source: Ensembl
• positive regulation of smooth muscle cell differentiation Source: BHF-UCLInferred from direct assayⁱ
  • "Myocardin is sufficient for a smooth muscle-like contractile phenotype."
    Long X., Bell R.D., Gerthoffer W.T., Zlokovic B.V., Miano J.M.
    Arterioscler Thromb Vasc Biol 28:1505-1510(2008) [PubMed] [Europe PMC] [Abstract]
• positive regulation of smooth muscle contraction Source: BHF-UCLInferred from direct assayⁱ
  • "Serum response factor and myocardin mediate arterial hypercontractility and cerebral blood flow dysregulation in Alzheimer's phenotype."
    Chow N., Bell R.D., Deane R., Streb J.W., Chen J., Brooks A., Van Nostrand W., Miano J.M., Zlokovic B.V.
    Proc Natl Acad Sci U S A 104:823-828(2007) [PubMed] [Europe PMC] [Abstract]
• positive regulation of transcription, DNA-templated Source: UniProtKBInferred from direct assayⁱ
  • "Myocardin-dependent activation of the CArG box-rich smooth muscle gamma-actin gene: preferential utilization of a single CArG element through functional association with the NKX3.1 homeodomain protein."
    Sun Q., Taurin S., Sethakorn N., Long X., Imamura M., Wang D.Z., Zimmer W.E., Dulin N.O., Miano J.M.
    J Biol Chem 284:32582-32590(2009) [PubMed] [Europe PMC] [Abstract]
  • Ref.10

    "Loss-of-function variants in myocardin cause congenital megabladder in humans and mice."
    Houweling A.C., Beaman G.M., Postma A.V., Gainous T.B., Lichtenbelt K.D., Brancati F., Lopes F.M., van der Made I., Polstra A.M., Robinson M.L., Wright K.D., Ellingford J.M., Jackson A.R., Overwater E., Genesio R., Romano S., Camerota L., D'Angelo E.

    , Meijers-Heijboer E.J., Christoffels V.M., McHugh K.M., Black B.L., Newman W.G., Woolf A.S., Creemers E.E.
    J. Clin. Invest. 129:5374-5380(2019) [PubMed] [Europe PMC] [Abstract]

    Cited for: INVOLVEMENT IN MGBL, FUNCTION, VARIANTS MGBL 115-ARG--TRP-938 DEL AND GLY-530, CHARACTERIZATION OF VARIANTS MGBL 115-ARG--TRP-938 DEL AND GLY-530.
• positive regulation of transcription by RNA polymerase II Source: BHF-UCLInferred from direct assayⁱ
  • "Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells."
    Du K.L., Chen M., Li J., Lepore J.J., Mericko P., Parmacek M.S.
    J Biol Chem 279:17578-17586(2004) [PubMed] [Europe PMC] [Abstract]
  • "Serum response factor and myocardin mediate arterial hypercontractility and cerebral blood flow dysregulation in Alzheimer's phenotype."
    Chow N., Bell R.D., Deane R., Streb J.W., Chen J., Brooks A., Van Nostrand W., Miano J.M., Zlokovic B.V.
    Proc Natl Acad Sci U S A 104:823-828(2007) [PubMed] [Europe PMC] [Abstract]
  • "miR-145 and miR-143 regulate smooth muscle cell fate and plasticity."
    Cordes K.R., Sheehy N.T., White M.P., Berry E.C., Morton S.U., Muth A.N., Lee T.H., Miano J.M., Ivey K.N., Srivastava D.
    Nature 460:705-710(2009) [PubMed] [Europe PMC] [Abstract]
• positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation Source: BHF-UCLInferred from direct assayⁱ
  • Ref.3

    "Activation of cardiac and smooth muscle-specific genes in primary human cells after forced expression of human myocardin."
    van Tuyn J., Knaan-Shanzer S., van de Watering M.J., de Graaf M., van der Laarse A., Schalij M.J., van der Wall E.E., de Vries A.A., Atsma D.E.
    Cardiovasc. Res. 67:245-255(2005) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
• positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation Source: BHF-UCLInferred from direct assayⁱ
  • Ref.3

    "Activation of cardiac and smooth muscle-specific genes in primary human cells after forced expression of human myocardin."
    van Tuyn J., Knaan-Shanzer S., van de Watering M.J., de Graaf M., van der Laarse A., Schalij M.J., van der Wall E.E., de Vries A.A., Atsma D.E.
    Cardiovasc. Res. 67:245-255(2005) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
• positive regulation of transforming growth factor beta receptor signaling pathway Source: Ensembl
• regulation of cell growth by extracellular stimulus Source: Ensembl
• regulation of histone acetylation Source: UniProtKB
• regulation of myoblast differentiation Source: Ensembl
• regulation of phenotypic switching Source: Ensembl
• regulation of smooth muscle cell differentiation Source: BHF-UCL <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%2Dgo%2Devidence%2Dcodes#tas">GO evidence code guide</a></p> Traceable author statementⁱ
  • "Serum response factor and myocardin mediate arterial hypercontractility and cerebral blood flow dysregulation in Alzheimer's phenotype."
    Chow N., Bell R.D., Deane R., Streb J.W., Chen J., Brooks A., Van Nostrand W., Miano J.M., Zlokovic B.V.
    Proc Natl Acad Sci U S A 104:823-828(2007) [PubMed] [Europe PMC] [Abstract]
• response to hypoxia Source: BHF-UCL <p>Inferred from Expression Pattern</p> <p>Covers cases where the annotation is inferred from the timing or location of expression of a gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iep">GO evidence code guide</a></p> Inferred from expression patternⁱ
  • "SRF and myocardin regulate LRP-mediated amyloid-beta clearance in brain vascular cells."
    Bell R.D., Deane R., Chow N., Long X., Sagare A., Singh I., Streb J.W., Guo H., Rubio A., Van Nostrand W., Miano J.M., Zlokovic B.V.
    Nat Cell Biol 11:143-153(2009) [PubMed] [Europe PMC] [Abstract]
• smooth muscle cell differentiation Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells."
    Du K.L., Chen M., Li J., Lepore J.J., Mericko P., Parmacek M.S.
    J Biol Chem 279:17578-17586(2004) [PubMed] [Europe PMC] [Abstract]
• urinary bladder development Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.10

    "Loss-of-function variants in myocardin cause congenital megabladder in humans and mice."
    Houweling A.C., Beaman G.M., Postma A.V., Gainous T.B., Lichtenbelt K.D., Brancati F., Lopes F.M., van der Made I., Polstra A.M., Robinson M.L., Wright K.D., Ellingford J.M., Jackson A.R., Overwater E., Genesio R., Romano S., Camerota L., D'Angelo E.

    , Meijers-Heijboer E.J., Christoffels V.M., McHugh K.M., Black B.L., Newman W.G., Woolf A.S., Creemers E.E.
    J. Clin. Invest. 129:5374-5380(2019) [PubMed] [Europe PMC] [Abstract]

    Cited for: INVOLVEMENT IN MGBL, FUNCTION, VARIANTS MGBL 115-ARG--TRP-938 DEL AND GLY-530, CHARACTERIZATION OF VARIANTS MGBL 115-ARG--TRP-938 DEL AND GLY-530.
• uterus development Source: Ensembl
• vascular associated smooth muscle cell differentiation Source: Ensembl
• vasculogenesis Source: Ensembl
• ventricular cardiac muscle cell differentiation Source: Ensembl

<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

Miscellaneous 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

<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

<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

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductionⁱ

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

• histone acetyltransferase binding Source: Ensembl
• histone deacetylase binding Source: Ensembl
• RNA polymerase II-specific DNA-binding transcription factor binding Source: BHF-UCL
• R-SMAD binding Source: Ensembl
• transcription factor binding Source: UniProtKBInferred from physical interactionⁱ
  • Ref.8

    "Phenotypic modulation of smooth muscle cells through interaction of Foxo4 and myocardin."
    Liu Z.-P., Wang Z., Yanagisawa H., Olson E.N.
    Dev. Cell 9:261-270(2005) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH MLLT7.
  • "Myocardin-dependent activation of the CArG box-rich smooth muscle gamma-actin gene: preferential utilization of a single CArG element through functional association with the NKX3.1 homeodomain protein."
    Sun Q., Taurin S., Sethakorn N., Long X., Imamura M., Wang D.Z., Zimmer W.E., Dulin N.O., Miano J.M.
    J Biol Chem 284:32582-32590(2009) [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

3D structure 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

Region

Coiled coil

Motif

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

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%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.

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

        10         20         30         40         50
MTLLGSEHSL LIRSKFRSVL QLRLQQRRTQ EQLANQGIIP PLKRPAEFHE 
        60         70         80         90        100
QRKHLDSDKA KNSLKRKARN RCNSADLVNM HILQASTAER SIPTAQMKLK 
       110        120        130        140        150
RARLADDLNE KIALRPGPLE LVEKNILPVD SAVKEAIKGN QVSFSKSTDA 
       160        170        180        190        200
FAFEEDSSSD GLSPDQTRSE DPQNSAGSPP DAKASDTPST GSLGTNQDLA 
       210        220        230        240        250
SGSENDRNDS ASQPSHQSDA GKQGLGPPST PIAVHAAVKS KSLGDSKNRH 
       260        270        280        290        300
KKPKDPKPKV KKLKYHQYIP PDQKAEKSPP PMDSAYARLL QQQQLFLQLQ 
       310        320        330        340        350
ILSQQQQQQQ HRFSYLGMHQ AQLKEPNEQM VRNPNSSSTP LSNTPLSPVK 
       360        370        380        390        400
NSFSGQTGVS SFKPGPLPPN LDDLKVSELR QQLRIRGLPV SGTKTALMDR 
       410        420        430        440        450
LRPFQDCSGN PVPNFGDITT VTFPVTPNTL PNYQSSSSTS ALSNGFYHFG 
       460        470        480        490        500
STSSSPPISP ASSDLSVAGS LPDTFNDASP SFGLHPSPVH VCTEESLMSS 
       510        520        530        540        550
LNGGSVPSEL DGLDSEKDKM LVEKQKVINE LTWKLQQEQR QVEELRMQLQ 
       560        570        580        590        600
KQKRNNCSEK KPLPFLAASI KQEEAVSSCP FASQVPVKRQ SSSSECHPPA 
       610        620        630        640        650
CEAAQLQPLG NAHCVESSDQ TNVLSSTFLS PQCSPQHSPL GAVKSPQHIS 
       660        670        680        690        700
LPPSPNNPHF LPSSSGAQGE GHRVSSPISS QVCTAQMAGL HSSDKVGPKF 
       710        720        730        740        750
SIPSPTFSKS SSAISEVTQP PSYEDAVKQQ MTRSQQMDEL LDVLIESGEM 
       760        770        780        790        800
PADAREDHSC LQKVPKIPRS SRSPTAVLTK PSASFEQASS GSQIPFDPYA 
       810        820        830        840        850
TDSDEHLEVL LNSQSPLGKM SDVTLLKIGS EEPHFDGIMD GFSGKAAEDL 
       860        870        880        890        900
FNAHEILPGP LSPMQTQFSP SSVDSNGLQL SFTESPWETM EWLDLTPPNS 
       910        920        930 
TPGFSALTTS SPSIFNIDFL DVTDLNLNSS MDLHLQQW              

        10         20         30         40         50
MKLKRARLAD DLNEKIALRP GPLELVEKNI LPVDSAVKEA IKGNQVSFSK 
        60         70         80         90        100
STDAFAFEED SSSDGLSPDQ TRSEDPQNSA GSPPDAKASD TPSTGSLGTN 
       110        120        130        140        150
QDLASGSEND RNDSASQPSH QSDAGKQGLG PPSTPIAVHA AVKSKSLGDS 
       160        170        180        190        200
KNRHKKPKDP KPKVKKLKYH QYIPPDQKAE KSPPPMDSAY ARLLQQQQLF 
       210        220        230        240        250
LQLQILSQQQ QQQQHRFSYL GMHQAQLKEP NEQMVRNPNS SSTPLSNTPL 
       260        270        280        290        300
SPVKNSFSGQ TGVSSFKPGP LPPNLDDLKV SELRQQLRIR GLPVSGTKTA 
       310        320        330        340        350
LMDRLRPFQD CSGNPVPNFG DITTVTFPVT PNTLPNYQSS SSTSALSNGF 
       360        370        380        390        400
YHFGSTSSSP PISPASSDLS VAGSLPDTFN DASPSFGLHP SPVHVCTEES 
       410        420        430        440        450
LMSSLNGGSV PSELDGLDSE KDKMLVEKQK VINELTWKLQ QEQRQVEELR 
       460        470        480        490        500
MQLQKQKRNN CSEKKPLPFL AASIKQEEAV SSCPFASQVP VKRQSSSSEC 
       510        520        530        540        550
HPPACEAAQL QPLGNAHCVE SSDQTNVLSS TFLSPQCSPQ HSPLGAVKSP 
       560        570        580        590        600
QHISLPPSPN NPHFLPSSSG AQGEGHRVSS PISSQVCTAQ NSGAHDGHPP 
       610        620        630        640        650
SFSPHSSSLH PPFSGAQADS SHGAGGNPCP KSPCVQQKMA GLHSSDKVGP 
       660        670        680 
KFSIPSPTFS KSSSAISEVT QPPSYEDAVK QVTM                  

        10         20         30         40         50
MTLLGSEHSL LIRSKFRSVL QLRLQQRRTQ EQLANQGIIP PLKRPAEFHE 
        60         70         80         90        100
QRKHLDSDKA KNSLKRKARN RCNSADLVNM HILQASTAER SIPTAQMKLK 
       110        120        130        140        150
RARLADDLNE KIALRPGPLE LVEKNILPVD SAVKEAIKGN QVSFSKSTDA 
       160        170        180        190        200
FAFEEDSSSD GLSPDQTRSE DPQNSAGSPP DAKASDTPST GSLGTNQDLA 
       210        220        230        240        250
SGSENDRNDS ASQPSHQSDA GKQGLGPPST PIAVHAAVKS KSLGDSKNRH 
       260        270        280        290        300
KKPKDPKPKV KKLKYHQYIP PDQKAEKSPP PMDSAYARLL QQQQLFLQLQ 
       310        320        330        340        350
ILSQQQQQQQ HRFSYLGMHQ AQLKEPNEQM VRNPNSSSTP LSNTPLSPVK 
       360        370        380        390        400
NSFSGQTGVS SFKPGPLPPN LDDLKVSELR QQLRIRGLPV SGTKTALMDR 
       410        420        430        440        450
LRPFQDCSGN PVPNFGDITT VTFPVTPNTL PNYQSSSSTS ALSNGFYHFG 
       460        470        480        490        500
STSSSPPISP ASSDLSVAGS LPDTFNDASP SFGLHPSPVH VCTEESLMSS 
       510        520        530        540        550
LNGGSVPSEL DGLDSEKDKM LVEKQKVINE LTWKLQQEQR QVEELRMQLQ 
       560        570        580        590        600
KQKRNNCSEK KPLPFLAASI KQEEAVSSCP FASQVPVKRQ SSSSECHPPA 
       610        620        630        640        650
CEAAQLQPLG NAHCVESSDQ TNVLSSTFLS PQCSPQHSPL GAVKSPQHIS 
       660        670        680        690        700
LPPSPNNPHF LPSSSGAQGE GHRVSSPISS QVCTAQNSGA HDGHPPSFSP 
       710        720        730        740        750
HSSSLHPPFS GAQADSSHGA GGNPCPKSPC VQQKMAGLHS SDKVGPKFSI 
       760        770        780        790        800
PSPTFSKSSS AISEVTQPPS YEDAVKQQMT RSQQMDELLD VLIESGEMPA 
       810        820        830        840        850
DAREDHSCLQ KVPKIPRSSR SPTAVLTKPS ASFEQASSGS QIPFDPYATD 
       860        870        880        890        900
SDEHLEVLLN SQSPLGKMSD VTLLKIGSEE PHFDGIMDGF SGKAAEDLFN 
       910        920        930        940        950
AHEILPGPLS PMQTQFSPSS VDSNGLQLSF TESPWETMEW LDLTPPNSTP 
       960        970        980 
GFSALTTSSP SIFNIDFLDV TDLNLNSSMD LHLQQW                

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

• 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

PTM databases

Polymorphism and mutation 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 polymorphisms and disease mutations
   Index of human polymorphisms and disease mutations
2. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
3. Human chromosome 17
   Human chromosome 17: entries, gene names and cross-references to MIM
4. Human entries with polymorphisms or disease mutations
   List of human entries with polymorphisms or disease mutations