Motor neuron and pancreas homeobox protein 1

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

Regions

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Specifies the position and type of each <span class="caps">DNA</span>-binding domain present within the protein.</p><p><a href='../manual/dna_bind' target='_top'>More...</a></p>DNA bindingi	241 – 300	60	HomeoboxPROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi PROSITE-ProRule:PRU00108			Add BLAST

<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><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• sequence-specific DNA binding Source: InterPro
• transcription factor activity, sequence-specific DNA binding 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

  • 9843207

<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><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processⁱ

• anatomical structure morphogenesis 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

  • 9843207

• endocrine pancreas development Source: GO_Central
• humoral immune response 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

  • 7914194

• neuron projection morphogenesis Source: GO_Central
• regulation of transcription from RNA polymerase II promoter 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

  • 9843207

• spinal cord motor neuron cell fate specification Source: GO_Central
• transcription, DNA-templated Source: UniProtKB-KW

<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Biological processⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Ligandⁱ

Enzyme and pathway databases

<p>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><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

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

<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><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componentⁱ

• cytoplasm Source: HPA
• nucleolus Source: HPA
• nucleus Source: HPA

<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Cellular componentⁱ

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

<p>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"><span class="caps">OMIM</span></a> database are represented with a <a href="/diseases">controlled vocabulary</a> in the following way:</p><p><a href='../manual/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Currarino syndrome (CURRAS)4 Publications

<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment inⁱ

• Ref.7

  "Involvement of the HLXB9 homeobox gene in Currarino syndrome."
  Belloni E., Martucciello G., Verderio D., Ponti E., Seri M., Jasonni V., Torre M., Ferrari M., Tsui L.-C., Scherer S.W.
  Am. J. Hum. Genet. 66:312-319(2000) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANTS CURRAS SER-246 AND TRP-293.
• Ref.8

  "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene."
  Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P., Correia P.

  , Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S.
  Am. J. Hum. Genet. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.
• Ref.9

  "MNX1 (HLXB9) mutations in Currarino patients."
  Garcia-Barcelo M.M., Lui V.C., So M.T., Miao X., Leon T.Y., Yuan Z.W., Ngan E.S., Ehsan T., Chung P.H., Khong P.L., Wong K.K., Tam P.K.
  J. Pediatr. Surg. 44:1892-1898(2009) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANTS CURRAS TRP-243 AND GLY-288.
• Ref.10

  "Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype."
  Markljung E., Adamovic T., Cao J., Naji H., Kaiser S., Wester T., Nordenskjold A.
  Gene 507:50-53(2012) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANT CURRAS SER-289.

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionThe triad of a presacral tumor, sacral agenesis and anorectal malformation constitutes the Currarino syndrome which is caused by dorsal-ventral patterning defects during embryonic development. The syndrome occurs in the majority of patients as an autosomal dominant trait.

See also OMIM:176450

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	243 – 243	1	R → W in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.9 "MNX1 (HLXB9) mutations in Currarino patients." Garcia-Barcelo M.M., Lui V.C., So M.T., Miao X., Leon T.Y., Yuan Z.W., Ngan E.S., Ehsan T., Chung P.H., Khong P.L., Wong K.K., Tam P.K. J. Pediatr. Surg. 44:1892-1898(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS TRP-243 AND GLY-288.		VAR_068473
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	245 – 245	1	R → G in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene." Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P., Correia P. , Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S. Am. J. Hum. Genet. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.		VAR_017874
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	245 – 245	1	R → H in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene." Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P., Correia P. , Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S. Am. J. Hum. Genet. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.		VAR_017875
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	246 – 246	1	T → S in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.7 "Involvement of the HLXB9 homeobox gene in Currarino syndrome." Belloni E., Martucciello G., Verderio D., Ponti E., Seri M., Jasonni V., Torre M., Ferrari M., Tsui L.-C., Scherer S.W. Am. J. Hum. Genet. 66:312-319(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS SER-246 AND TRP-293. Corresponds to variant rs121912548 [ dbSNP | Ensembl ].		VAR_017876
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	288 – 288	1	W → G in CURRAS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene." Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P., Correia P. , Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S. Am. J. Hum. Genet. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293. Ref.9 "MNX1 (HLXB9) mutations in Currarino patients." Garcia-Barcelo M.M., Lui V.C., So M.T., Miao X., Leon T.Y., Yuan Z.W., Ngan E.S., Ehsan T., Chung P.H., Khong P.L., Wong K.K., Tam P.K. J. Pediatr. Surg. 44:1892-1898(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS TRP-243 AND GLY-288.		VAR_017877
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	288 – 288	1	W → L in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene." Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P., Correia P. , Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S. Am. J. Hum. Genet. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.		VAR_017878
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	289 – 289	1	F → S in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.10 "Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype." Markljung E., Adamovic T., Cao J., Naji H., Kaiser S., Wester T., Nordenskjold A. Gene 507:50-53(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CURRAS SER-289.		VAR_068474
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	290 – 290	1	Q → P in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene." Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P., Correia P. , Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S. Am. J. Hum. Genet. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.		VAR_017879
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	292 – 292	1	R → W in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene." Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P., Correia P. , Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S. Am. J. Hum. Genet. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.		VAR_017880
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	293 – 293	1	R → Q in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene." Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P., Correia P. , Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S. Am. J. Hum. Genet. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.		VAR_017881
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	293 – 293	1	R → W in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.7 "Involvement of the HLXB9 homeobox gene in Currarino syndrome." Belloni E., Martucciello G., Verderio D., Ponti E., Seri M., Jasonni V., Torre M., Ferrari M., Tsui L.-C., Scherer S.W. Am. J. Hum. Genet. 66:312-319(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS SER-246 AND TRP-293.		VAR_017882

<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Diseaseⁱ

Organism-specific databases

Polymorphism and mutation databases

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

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the extent of a polypeptide chain in the mature protein following processing.</p><p><a href='../manual/chain' target='_top'>More...</a></p>Chaini	1 – 401	401	Motor neuron and pancreas homeobox protein 1		PRO_0000048905	Add BLAST

Amino acid modifications

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Specifies the position and type of each modified residue excluding <a href="/manual/lipid">lipids</a>, <a href="/manual/carbohyd">glycans</a> and <a href="/manual/crosslnk">protein cross-links</a>.</p><p><a href='../manual/mod_res' target='_top'>More...</a></p>Modified residuei	1 – 1	1	N-acetylmethionineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei Ref.5 "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB." Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R. Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
<p>Specifies the position and type of each modified residue excluding <a href="/manual/lipid">lipids</a>, <a href="/manual/carbohyd">glycans</a> and <a href="/manual/crosslnk">protein cross-links</a>.</p><p><a href='../manual/mod_res' target='_top'>More...</a></p>Modified residuei	77 – 77	1	PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei Ref.6 "Toward a comprehensive characterization of a human cancer cell phosphoproteome." Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S. J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-77 AND SER-79, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
<p>Specifies the position and type of each modified residue excluding <a href="/manual/lipid">lipids</a>, <a href="/manual/carbohyd">glycans</a> and <a href="/manual/crosslnk">protein cross-links</a>.</p><p><a href='../manual/mod_res' target='_top'>More...</a></p>Modified residuei	79 – 79	1	PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei Ref.6 "Toward a comprehensive characterization of a human cancer cell phosphoproteome." Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S. J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-77 AND SER-79, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - PTMⁱ

Proteomic databases

PTM databases

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

<p>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 />Examples: <a href="/uniprot/P92958#expression"><span class="caps">P92958</span></a>, <a href="/uniprot/Q8TDN4#expression"><span class="caps">Q8TDN4</span></a>, <a href="/uniprot/O14734#expression"><span class="caps">O14734</span></a></p><p><a href='../manual/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

Gene expression databases

Organism-specific databases

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

Protein-protein interaction databases

<p>Provides information on the tertiary and secondary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

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

Compositional bias

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.</p><p><a href='../manual/compbias' target='_top'>More...</a></p>Compositional biasi	35 – 38	4	Poly-Ala
<p>Describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.</p><p><a href='../manual/compbias' target='_top'>More...</a></p>Compositional biasi	40 – 49	10	Poly-Gly
<p>Describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.</p><p><a href='../manual/compbias' target='_top'>More...</a></p>Compositional biasi	98 – 112	15	Poly-Gly			Add BLAST
<p>Describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.</p><p><a href='../manual/compbias' target='_top'>More...</a></p>Compositional biasi	121 – 134	14	Poly-Ala			Add BLAST
<p>Describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.</p><p><a href='../manual/compbias' target='_top'>More...</a></p>Compositional biasi	168 – 176	9	Poly-Ala
<p>Describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.</p><p><a href='../manual/compbias' target='_top'>More...</a></p>Compositional biasi	315 – 324	10	Poly-Gly

<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>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 length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequences (2)ⁱ

<p>Indicates if the <a href="/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.</p><p><a href='../manual/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

This entry describes 2<p>Lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.</p><p><a href='../manual/alternative_products' target='_top'>More...</a></p> isoformsⁱ produced by alternative splicing. AlignAdd to basketAdded to basket

        10         20         30         40         50
MEKSKNFRID ALLAVDPPRA ASAQSAPLAL VTSLAAAASG TGGGGGGGGA 
        60         70         80         90        100
SGGTSGSCSP ASSEPPAAPA DRLRAESPSP PRLLAAHCAL LPKPGFLGAG 
       110        120        130        140        150
GGGGGTGGGH GGPHHHAHPG AAAAAAAAAA AAAAGGLALG LHPGGAQGGA 
       160        170        180        190        200
GLPAQAALYG HPVYGYSAAA AAAALAGQHP ALSYSYPQVQ GAHPAHPADP 
       210        220        230        240        250
IKLGAGTFQL DQWLRASTAG MILPKMPDFN SQAQSNLLGK CRRPRTAFTS 
       260        270        280        290        300
QQLLELEHQF KLNKYLSRPK RFEVATSLML TETQVKIWFQ NRRMKWKRSK 
       310        320        330        340        350
KAKEQAAQEA EKQKGGGGGA GKGGAEEPGA EELLGPPAPG DKGSGRRLRD 
       360        370        380        390        400
LRDSDPEEDE DEDDEDHFPY SNGASVHAAS SDCSSEDDSP PPRPSHQPAP 

Q                                             

        10         20         30         40         50
MGGLSTVGAC PGILGAQQAQ AQSNLLGKCR RPRTAFTSQQ LLELEHQFKL 
        60         70         80         90        100
NKYLSRPKRF EVATSLMLTE TQVKIWFQNR RMKWKRSKKA KEQAAQEAEK 
       110        120        130        140        150
QKGGGGGAGK GGAEEPGAEE LLGPPAPGDK GSGRRLRDLR DSDPEEDEDE 
       160        170        180 
DDEDHFPYSN GASVHAASSD CSSEDDSPPP RPSHQPAPQ            

Experimental Info

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	10 – 37	28	DALLA…SLAAA → EPCWRWTPHEPPLAERALAK VTSPPVP in AAB60647 (PubMed:7914194).Curated			Add BLAST
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	121 – 121	1	A → AAA in AAB60647 (PubMed:7914194).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	121 – 121	1	A → ARA in AAD41467 (PubMed:10329000).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	262 – 262	1	L → F in AAB60647 (PubMed:7914194).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	340 – 340	1	G → R in AAB60647 (PubMed:7914194).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	346 – 349	4	RRLR → PPA in AAB60647 (PubMed:7914194).Curated

Natural variant

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	243 – 243	1	R → W in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.9 "MNX1 (HLXB9) mutations in Currarino patients." Garcia-Barcelo M.M., Lui V.C., So M.T., Miao X., Leon T.Y., Yuan Z.W., Ngan E.S., Ehsan T., Chung P.H., Khong P.L., Wong K.K., Tam P.K. J. Pediatr. Surg. 44:1892-1898(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS TRP-243 AND GLY-288.		VAR_068473
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	245 – 245	1	R → G in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene." Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P., Correia P. , Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S. Am. J. Hum. Genet. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.		VAR_017874
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	245 – 245	1	R → H in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene." Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P., Correia P. , Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S. Am. J. Hum. Genet. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.		VAR_017875
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	246 – 246	1	T → S in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.7 "Involvement of the HLXB9 homeobox gene in Currarino syndrome." Belloni E., Martucciello G., Verderio D., Ponti E., Seri M., Jasonni V., Torre M., Ferrari M., Tsui L.-C., Scherer S.W. Am. J. Hum. Genet. 66:312-319(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS SER-246 AND TRP-293. Corresponds to variant rs121912548 [ dbSNP | Ensembl ].		VAR_017876
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	288 – 288	1	W → G in CURRAS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene." Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P., Correia P. , Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S. Am. J. Hum. Genet. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293. Ref.9 "MNX1 (HLXB9) mutations in Currarino patients." Garcia-Barcelo M.M., Lui V.C., So M.T., Miao X., Leon T.Y., Yuan Z.W., Ngan E.S., Ehsan T., Chung P.H., Khong P.L., Wong K.K., Tam P.K. J. Pediatr. Surg. 44:1892-1898(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS TRP-243 AND GLY-288.		VAR_017877
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	288 – 288	1	W → L in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene." Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P., Correia P. , Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S. Am. J. Hum. Genet. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.		VAR_017878
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	289 – 289	1	F → S in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.10 "Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype." Markljung E., Adamovic T., Cao J., Naji H., Kaiser S., Wester T., Nordenskjold A. Gene 507:50-53(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CURRAS SER-289.		VAR_068474
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	290 – 290	1	Q → P in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene." Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P., Correia P. , Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S. Am. J. Hum. Genet. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.		VAR_017879
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	292 – 292	1	R → W in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene." Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P., Correia P. , Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S. Am. J. Hum. Genet. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.		VAR_017880
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	293 – 293	1	R → Q in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene." Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P., Correia P. , Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S. Am. J. Hum. Genet. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.		VAR_017881
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	293 – 293	1	R → W in CURRAS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.7 "Involvement of the HLXB9 homeobox gene in Currarino syndrome." Belloni E., Martucciello G., Verderio D., Ponti E., Seri M., Jasonni V., Torre M., Ferrari M., Tsui L.-C., Scherer S.W. Am. J. Hum. Genet. 66:312-319(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CURRAS SER-246 AND TRP-293.		VAR_017882

Alternative sequence

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.</p><p><a href='../manual/var_seq' target='_top'>More...</a></p>Alternative sequencei	1 – 212	212	Missing in isoform 2. Curated		VSP_046773	Add BLAST
<p>Describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.</p><p><a href='../manual/var_seq' target='_top'>More...</a></p>Alternative sequencei	213 – 231	19	WLRAS…PDFNS → MGGLSTVGACPGILGAQQA in isoform 2. Curated		VSP_046774	Add BLAST

Sequence databases

Genome annotation databases

<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Coding sequence diversityⁱ

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

<p>Provides links to various web resources that are relevant for a specific protein.</p><p><a href='../manual/web_resource' target='_top'>More...</a></p>Web resourcesⁱ

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>Provides general information on the entry.</p><p><a href='../manual/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

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

<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Technical termⁱ

Documents

1. Human chromosome 7
   Human chromosome 7: entries, gene names and cross-references to MIM
2. Human entries with polymorphisms or disease mutations
   List of human entries with polymorphisms or disease mutations
3. Human polymorphisms and disease mutations
   Index of human polymorphisms and disease mutations
4. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
5. SIMILARITY comments
   Index of protein domains and families

<p>Provides links to the UniProt Reference Clusters (<a href="/help/uniref">UniRef</a>). UniRef consists of clusters for UniProtKB sequences (including isoforms) and selected UniParc sequences, in order to obtain complete coverage of the sequence space at resolutions of 100%, 90% and 50% identity.</p><p><a href='../manual/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ