Paired box protein Pax-8

<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
  • "Expression, regulation, and function of paired-box gene 8 in the human placenta and placental cancer cell lines."
    Ferretti E., Arturi F., Mattei T., Scipioni A., Tell G., Tosi E., Presta I., Morisi R., Lacroix L., Gulino A., Russo D., Damante G., Filetti S.
    Endocrinology 146:4009-4015(2005) [PubMed] [Europe PMC] [Abstract]
  • "PAX8-mediated activation of the wt1 tumor suppressor gene."
    Dehbi M., Pelletier J.
    EMBO J 15:4297-4306(1996) [PubMed] [Europe PMC] [Abstract]
• DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
• DNA-binding transcription factor activity Source: UniProtKBInferred from direct assayⁱ
  • "PAX 8 regulates human WT1 transcription through a novel DNA binding site."
    Fraizer G.C., Shimamura R., Zhang X., Saunders G.F.
    J Biol Chem 272:30678-30687(1997) [PubMed] [Europe PMC] [Abstract]
  • Ref.9

    "PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis."
    Macchia P.E., Lapi P., Krude H., Pirro M.T., Missero C., Chiovato L., Souabni A., Baserga M., Tassi V., Pinchera A., Fenzi G., Gruters A., Busslinger M., Di Lauro R.
    Nat. Genet. 19:83-86(1998) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS CHNG2 HIS-31 AND ARG-62.
• DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
• RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: UniProtKBInferred from direct assayⁱ
  • "PAX 8 regulates human WT1 transcription through a novel DNA binding site."
    Fraizer G.C., Shimamura R., Zhang X., Saunders G.F.
    J Biol Chem 272:30678-30687(1997) [PubMed] [Europe PMC] [Abstract]
• sequence-specific double-stranded DNA binding Source: ARUK-UCLInferred from direct assayⁱ
  • "Impact of cytosine methylation on DNA binding specificities of human transcription factors."
    Yin Y., Morgunova E., Jolma A., Kaasinen E., Sahu B., Khund-Sayeed S., Das P.K., Kivioja T., Dave K., Zhong F., Nitta K.R., Taipale M., Popov A., Ginno P.A., Domcke S., Yan J., Schubeler D., Vinson C., Taipale J.
    Science 356:0-0(2017) [PubMed] [Europe PMC] [Abstract]
• thyroid-stimulating hormone receptor activity Source: ProtInc <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
  • Ref.9

    "PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis."
    Macchia P.E., Lapi P., Krude H., Pirro M.T., Missero C., Chiovato L., Souabni A., Baserga M., Tassi V., Pinchera A., Fenzi G., Gruters A., Busslinger M., Di Lauro R.
    Nat. Genet. 19:83-86(1998) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS CHNG2 HIS-31 AND ARG-62.
• transcription cis-regulatory region binding Source: UniProtKBInferred from direct assayⁱ
  • "Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid."
    Meeus L., Gilbert B., Rydlewski C., Parma J., Roussie A.L., Abramowicz M., Vilain C., Christophe D., Costagliola S., Vassart G.
    J Clin Endocrinol Metab 89:4285-4291(2004) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• anatomical structure development 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]
• anatomical structure morphogenesis Source: ProtIncTraceable author statementⁱ
  • Ref.9

    "PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis."
    Macchia P.E., Lapi P., Krude H., Pirro M.T., Missero C., Chiovato L., Souabni A., Baserga M., Tassi V., Pinchera A., Fenzi G., Gruters A., Busslinger M., Di Lauro R.
    Nat. Genet. 19:83-86(1998) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS CHNG2 HIS-31 AND ARG-62.
• branching involved in ureteric bud morphogenesis Source: UniProtKB <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-go-evidence-codes#iep">GO evidence code guide</a></p> Inferred from expression patternⁱ
  • Ref.1

    "PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors."
    Poleev A., Fickenscher H., Mundlos S., Winterpacht A., Zabel B., Fidler A., Gruss P., Plachov D.
    Development 116:611-623(1992) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT LEU-329.
• cellular response to gonadotropin stimulus Source: UniProtKBInferred from direct assayⁱ
  • "Expression, regulation, and function of paired-box gene 8 in the human placenta and placental cancer cell lines."
    Ferretti E., Arturi F., Mattei T., Scipioni A., Tell G., Tosi E., Presta I., Morisi R., Lacroix L., Gulino A., Russo D., Damante G., Filetti S.
    Endocrinology 146:4009-4015(2005) [PubMed] [Europe PMC] [Abstract]
• central nervous system development Source: UniProtKBInferred from expression patternⁱ
  • "PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations."
    Trueba S.S., Auge J., Mattei G., Etchevers H., Martinovic J., Czernichow P., Vekemans M., Polak M., Attie-Bitach T.
    J Clin Endocrinol Metab 90:455-462(2005) [PubMed] [Europe PMC] [Abstract]
• inner ear morphogenesis Source: UniProtKB
• kidney development Source: UniProtKBInferred from expression patternⁱ
  • "PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations."
    Trueba S.S., Auge J., Mattei G., Etchevers H., Martinovic J., Czernichow P., Vekemans M., Polak M., Attie-Bitach T.
    J Clin Endocrinol Metab 90:455-462(2005) [PubMed] [Europe PMC] [Abstract]
• mesenchymal to epithelial transition involved in metanephros morphogenesis Source: UniProtKBInferred from expression patternⁱ
  • "PAX8-mediated activation of the wt1 tumor suppressor gene."
    Dehbi M., Pelletier J.
    EMBO J 15:4297-4306(1996) [PubMed] [Europe PMC] [Abstract]
• mesonephros development Source: UniProtKB
• metanephric comma-shaped body morphogenesis Source: UniProtKBInferred from expression patternⁱ
  • Ref.1

    "PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors."
    Poleev A., Fickenscher H., Mundlos S., Winterpacht A., Zabel B., Fidler A., Gruss P., Plachov D.
    Development 116:611-623(1992) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT LEU-329.
• metanephric distal convoluted tubule development Source: UniProtKB
• metanephric epithelium development Source: UniProtKBInferred from expression patternⁱ
  • "Comparative in situ hybridization analysis of PAX2, PAX8, and WT1 gene transcription in human fetal kidney and Wilms' tumors."
    Eccles M.R., Yun K., Reeve A.E., Fidler A.E.
    Am J Pathol 146:40-45(1995) [PubMed] [Europe PMC] [Abstract]
• metanephric nephron tubule formation Source: UniProtKB
• metanephric S-shaped body morphogenesis Source: UniProtKBInferred from expression patternⁱ
  • Ref.1

    "PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors."
    Poleev A., Fickenscher H., Mundlos S., Winterpacht A., Zabel B., Fidler A., Gruss P., Plachov D.
    Development 116:611-623(1992) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT LEU-329.
• negative regulation of apoptotic process involved in metanephric collecting duct development Source: UniProtKB
• negative regulation of apoptotic process involved in metanephric nephron tubule development Source: UniProtKB
• negative regulation of cardiac muscle cell apoptotic process Source: Ensembl
• negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis Source: UniProtKB
• negative regulation of mesenchymal cell apoptotic process involved in metanephros development Source: UniProtKB
• otic vesicle development Source: UniProtKBInferred from expression patternⁱ
  • "PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations."
    Trueba S.S., Auge J., Mattei G., Etchevers H., Martinovic J., Czernichow P., Vekemans M., Polak M., Attie-Bitach T.
    J Clin Endocrinol Metab 90:455-462(2005) [PubMed] [Europe PMC] [Abstract]
• positive regulation of branching involved in ureteric bud morphogenesis Source: UniProtKB
• positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis Source: UniProtKB
• positive regulation of metanephric DCT cell differentiation Source: UniProtKB
• positive regulation of thyroid hormone generation 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
  • "Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid."
    Meeus L., Gilbert B., Rydlewski C., Parma J., Roussie A.L., Abramowicz M., Vilain C., Christophe D., Costagliola S., Vassart G.
    J Clin Endocrinol Metab 89:4285-4291(2004) [PubMed] [Europe PMC] [Abstract]
• positive regulation of transcription, DNA-templated Source: UniProtKBInferred from direct assayⁱ
  • "Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid."
    Meeus L., Gilbert B., Rydlewski C., Parma J., Roussie A.L., Abramowicz M., Vilain C., Christophe D., Costagliola S., Vassart G.
    J Clin Endocrinol Metab 89:4285-4291(2004) [PubMed] [Europe PMC] [Abstract]
  • "Expression, regulation, and function of paired-box gene 8 in the human placenta and placental cancer cell lines."
    Ferretti E., Arturi F., Mattei T., Scipioni A., Tell G., Tosi E., Presta I., Morisi R., Lacroix L., Gulino A., Russo D., Damante G., Filetti S.
    Endocrinology 146:4009-4015(2005) [PubMed] [Europe PMC] [Abstract]
  • "PAX 8 regulates human WT1 transcription through a novel DNA binding site."
    Fraizer G.C., Shimamura R., Zhang X., Saunders G.F.
    J Biol Chem 272:30678-30687(1997) [PubMed] [Europe PMC] [Abstract]
  • Ref.2

    "Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties."
    Kozmik Z., Kurzbauer R., Doerfler P., Busslinger M.
    Mol. Cell. Biol. 13:6024-6035(1993) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING.
  • "PAX8-mediated activation of the wt1 tumor suppressor gene."
    Dehbi M., Pelletier J.
    EMBO J 15:4297-4306(1996) [PubMed] [Europe PMC] [Abstract]
• positive regulation of transcription by RNA polymerase II Source: UniProtKBInferred from direct assayⁱ
  • "PAX 8 regulates human WT1 transcription through a novel DNA binding site."
    Fraizer G.C., Shimamura R., Zhang X., Saunders G.F.
    J Biol Chem 272:30678-30687(1997) [PubMed] [Europe PMC] [Abstract]
• pronephric field specification Source: UniProtKB
• pronephros development Source: UniProtKB
• regulation of apoptotic process Source: UniProtKB
• regulation of metanephric nephron tubule epithelial cell differentiation Source: UniProtKB
• regulation of thyroid-stimulating hormone secretion Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid."
    Meeus L., Gilbert B., Rydlewski C., Parma J., Roussie A.L., Abramowicz M., Vilain C., Christophe D., Costagliola S., Vassart G.
    J Clin Endocrinol Metab 89:4285-4291(2004) [PubMed] [Europe PMC] [Abstract]
• 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]
• sulfur compound metabolic process Source: Ensembl
• thyroid gland development Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.9

    "PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis."
    Macchia P.E., Lapi P., Krude H., Pirro M.T., Missero C., Chiovato L., Souabni A., Baserga M., Tassi V., Pinchera A., Fenzi G., Gruters A., Busslinger M., Di Lauro R.
    Nat. Genet. 19:83-86(1998) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS CHNG2 HIS-31 AND ARG-62.
• transcription, DNA-templated Source: UniProtKBInferred from direct assayⁱ
  • Ref.9

    "PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis."
    Macchia P.E., Lapi P., Krude H., Pirro M.T., Missero C., Chiovato L., Souabni A., Baserga M., Tassi V., Pinchera A., Fenzi G., Gruters A., Busslinger M., Di Lauro R.
    Nat. Genet. 19:83-86(1998) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS CHNG2 HIS-31 AND ARG-62.
• urogenital system development Source: UniProtKB
• ventricular septum development 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

• 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

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

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 provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stageⁱ

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

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

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 (5+)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 5 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

        10         20         30         40         50
MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ 
        60         70         80         90        100
LRVSHGCVSK ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP 
       110        120        130        140        150
TMFAWEIRDR LLAEGVCDND TVPSVSSINR IIRTKVQQPF NLPMDSCVAT 
       160        170        180        190        200
KSLSPGHTLI PSSAVTPPES PQSDSLGSTY SINGLLGIAQ PGSDKRKMDD 
       210        220        230        240        250
SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF ERQHYPEAYA 
       260        270        280        290        300
SPSHTKGEQG LYPLPLLNST LDDGKATLTP SNTPLGRNLS THQTYPVVAD 
       310        320        330        340        350
PHSPFAIKQE TPEVSSSSST PSSLSSSAFL DLQQVGSGVP PFNAFPHAAS 
       360        370        380        390        400
VYGQFTGQAL LSGREMVGPT LPGYPPHIPT SGQGSYASSA IAGMVAGSEY 
       410        420        430        440        450
SGNAYGHTPY SSYSEAWRFP NSSLLSSPYY YSSTSRPSAP PTTATAFDHL 

        10         20         30         40         50
MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ 
        60         70         80         90        100
LRVSHGCVSK ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP 
       110        120        130        140        150
TMFAWEIRDR LLAEGVCDND TVPSVSSINR IIRTKVQQPF NLPMDSCVAT 
       160        170        180        190        200
KSLSPGHTLI PSSAVTPPES PQSDSLGSTY SINGLLGIAQ PGSDKRKMDD 
       210        220        230        240        250
SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF ERQHYPEAYA 
       260        270        280        290        300
SPSHTKGEQG LYPLPLLNST LDDGKATLTP SNTPLGRNLS THQTYPVVAG 
       310        320        330        340        350
REMVGPTLPG YPPHIPTSGQ GSYASSAIAG MVAGSEYSGN AYGHTPYSSY 
       360        370        380 
SEAWRFPNSS LLSSPYYYSS TSRPSAPPTT ATAFDHL               

        10         20         30         40         50
MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ 
        60         70         80         90        100
LRVSHGCVSK ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP 
       110        120        130        140        150
TMFAWEIRDR LLAEGVCDND TVPSVSSINR IIRTKVQQPF NLPMDSCVAT 
       160        170        180        190        200
KSLSPGHTLI PSSAVTPPES PQSDSLGSTY SINGLLGIAQ PGSDKRKMDD 
       210        220        230        240        250
SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF ERQHYPEAYA 
       260        270        280        290        300
SPSHTKGEQG LYPLPLLNST LDDGKATLTP SNTPLGRNLS THQTYPVVAA 
       310        320        330        340        350
PPFWICSKSA PGSRPSMPFP MLPPCTGSSR ARPSSQGERW WGPRCPDTHP 
       360        370        380        390 
TSPPADRAAM PPLPSQAWWQ EVNTLAMPMA TPPTPPTARP GASPTPAC   

        10         20         30         40         50
MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ 
        60         70         80         90        100
LRVSHGCVSK ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP 
       110        120        130        140        150
TMFAWEIRDR LLAEGVCDND TVPSVSSINR IIRTKVQQPF NLPMDSCVAT 
       160        170        180        190        200
KSLSPGHTLI PSSAVTPPES PQSDSLGSTY SINGLLGIAQ PGSDKRKMDD 
       210        220        230        240        250
SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF ERQHYPEAYA 
       260        270        280        290        300
SPSHTKGEQG ERWWGPRCPD THPTSPPADR AAMPPLPSQA WWQEVNTLAM 
       310        320 
PMATPPTPPT ARPGASPTPA C                                

        10         20         30         40         50
MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ 
        60         70         80         90        100
LRVSHGCVSK ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP 
       110        120        130        140        150
TMFAWEIRDR LLAEGVCDND TVPSVSSINR IIRTKVQQPF NLPMDSCVAT 
       160        170        180        190        200
KSLSPGHTLI PSSAVTPPES PQSDSLGSTY SINGLLGIAQ PGSDKRKMDD 
       210        220        230        240        250
SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF ERQHYPEAYA 
       260        270        280 
SPSHTKGEQE VNTLAMPMAT PPTPPTARPG ASPTPAC               

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesⁱ

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 2
   Human chromosome 2: 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