Toll/interleukin-1 receptor domain-containing adapter protein

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

Caution

<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

• identical protein binding Source: IntAct <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
  • "MAPPIT analysis of TLR adaptor complexes."
    Ulrichts P., Peelman F., Beyaert R., Tavernier J.
    FEBS Lett 581:629-636(2007) [PubMed] [Europe PMC] [Abstract]
  • "Crystal structures of the Toll/Interleukin-1 receptor (TIR) domains from the Brucella protein TcpB and host adaptor TIRAP reveal mechanisms of molecular mimicry."
    Snyder G.A., Deredge D., Waldhuber A., Fresquez T., Wilkins D.Z., Smith P.T., Durr S., Cirl C., Jiang J., Jennings W., Luchetti T., Snyder N., Sundberg E.J., Wintrode P., Miethke T., Xiao T.S.
    J Biol Chem 289:669-679(2014) [PubMed] [Europe PMC] [Abstract]
• phosphatidylinositol-4,5-bisphosphate binding Source: BHF-UCL
• protein kinase C binding Source: BHF-UCLInferred from physical interactionⁱ
  • "Protein kinase Cdelta binds TIRAP/Mal to participate in TLR signaling."
    Kubo-Murai M., Hazeki K., Sukenobu N., Yoshikawa K., Nigorikawa K., Inoue K., Yamamoto T., Matsumoto M., Seya T., Inoue N., Hazeki O.
    Mol Immunol 44:2257-2264(2007) [PubMed] [Europe PMC] [Abstract]
• protein-macromolecule adaptor activity Source: BHF-UCL <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.14

    "A TIR domain variant of MyD88 adapter-like (Mal)/TIRAP results in loss of MyD88 binding and reduced TLR2/TLR4 signaling."
    Nagpal K., Plantinga T.S., Wong J., Monks B.G., Gay N.J., Netea M.G., Fitzgerald K.A., Golenbock D.T.
    J. Biol. Chem. 284:25742-25748(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH MYD88, VARIANT ASN-96, CHARACTERIZATION OF VARIANTS PRO-9; TRP-13; ASN-96; LEU-180 AND ILE-197.
• Toll-like receptor 2 binding Source: BHF-UCLInferred from physical interactionⁱ
  • Ref.14

    "A TIR domain variant of MyD88 adapter-like (Mal)/TIRAP results in loss of MyD88 binding and reduced TLR2/TLR4 signaling."
    Nagpal K., Plantinga T.S., Wong J., Monks B.G., Gay N.J., Netea M.G., Fitzgerald K.A., Golenbock D.T.
    J. Biol. Chem. 284:25742-25748(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH MYD88, VARIANT ASN-96, CHARACTERIZATION OF VARIANTS PRO-9; TRP-13; ASN-96; LEU-180 AND ILE-197.
• Toll-like receptor 4 binding Source: BHF-UCLInferred from physical interactionⁱ
  • Ref.14

    "A TIR domain variant of MyD88 adapter-like (Mal)/TIRAP results in loss of MyD88 binding and reduced TLR2/TLR4 signaling."
    Nagpal K., Plantinga T.S., Wong J., Monks B.G., Gay N.J., Netea M.G., Fitzgerald K.A., Golenbock D.T.
    J. Biol. Chem. 284:25742-25748(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH MYD88, VARIANT ASN-96, CHARACTERIZATION OF VARIANTS PRO-9; TRP-13; ASN-96; LEU-180 AND ILE-197.

GO - Biological processⁱ

• 3'-UTR-mediated mRNA stabilization Source: BHF-UCL <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
  • "Toll IL-1 receptors differ in their ability to promote the stabilization of adenosine and uridine-rich elements containing mRNA."
    Datta S., Novotny M., Li X., Tebo J., Hamilton T.A.
    J Immunol 173:2755-2761(2004) [PubMed] [Europe PMC] [Abstract]
• activation of NF-kappaB-inducing kinase activity Source: AgBase <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
  • "Crystal structures of the Toll/Interleukin-1 receptor (TIR) domains from the Brucella protein TcpB and host adaptor TIRAP reveal mechanisms of molecular mimicry."
    Snyder G.A., Deredge D., Waldhuber A., Fresquez T., Wilkins D.Z., Smith P.T., Durr S., Cirl C., Jiang J., Jennings W., Luchetti T., Snyder N., Sundberg E.J., Wintrode P., Miethke T., Xiao T.S.
    J Biol Chem 289:669-679(2014) [PubMed] [Europe PMC] [Abstract]
• cell surface receptor signaling pathway Source: BHF-UCL
• cellular response to bacterial lipopeptide Source: BHF-UCL
• cellular response to lipoteichoic acid Source: BHF-UCL
• defense response to Gram-positive bacterium Source: BHF-UCL
• inflammatory response Source: UniProtKB-KW
• innate immune response Source: UniProtKB-KW
• MyD88-dependent toll-like receptor signaling pathway 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
  • Ref.14

    "A TIR domain variant of MyD88 adapter-like (Mal)/TIRAP results in loss of MyD88 binding and reduced TLR2/TLR4 signaling."
    Nagpal K., Plantinga T.S., Wong J., Monks B.G., Gay N.J., Netea M.G., Fitzgerald K.A., Golenbock D.T.
    J. Biol. Chem. 284:25742-25748(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH MYD88, VARIANT ASN-96, CHARACTERIZATION OF VARIANTS PRO-9; TRP-13; ASN-96; LEU-180 AND ILE-197.
• myeloid cell differentiation Source: BHF-UCL
• positive regulation of B cell proliferation Source: BHF-UCL
• positive regulation of chemokine (C-X-C motif) ligand 1 production Source: BHF-UCL
• positive regulation of chemokine (C-X-C motif) ligand 2 production Source: BHF-UCL
• positive regulation of ERK1 and ERK2 cascade Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.1

    "Mal (MyD88-adapter-like) is required for Toll-like receptor-4 signal transduction."
    Fitzgerald K.A., Palsson-McDermott E.M., Bowie A.G., Jefferies C.A., Mansell A.S., Brady G., Brint E., Dunne A., Gray P., Harte M.T., McMurray D., Smith D.E., Sims J.E., Bird T.A., O'Neill L.A.J.
    Nature 413:78-83(2001) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), MUTAGENESIS OF PRO-125, VARIANT ASN-55.
• positive regulation of I-kappaB kinase/NF-kappaB signaling Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.14

    "A TIR domain variant of MyD88 adapter-like (Mal)/TIRAP results in loss of MyD88 binding and reduced TLR2/TLR4 signaling."
    Nagpal K., Plantinga T.S., Wong J., Monks B.G., Gay N.J., Netea M.G., Fitzgerald K.A., Golenbock D.T.
    J. Biol. Chem. 284:25742-25748(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH MYD88, VARIANT ASN-96, CHARACTERIZATION OF VARIANTS PRO-9; TRP-13; ASN-96; LEU-180 AND ILE-197.
• positive regulation of interleukin-12 production Source: BHF-UCL
• positive regulation of interleukin-15 production Source: BHF-UCLInferred from direct assayⁱ
  • "Requirement of TLR2-mediated signaling for the induction of IL-15 gene expression in human monocytic cells by HSV-1."
    Ahmad R., El Bassam S., Cordeiro P., Menezes J.
    Blood 112:2360-2368(2008) [PubMed] [Europe PMC] [Abstract]
• positive regulation of interleukin-6 production Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Toll-IL-1 receptor domain-containing adaptor protein is critical for early lung immune responses against Escherichia coli lipopolysaccharide and viable Escherichia coli."
    Jeyaseelan S., Manzer R., Young S.K., Yamamoto M., Akira S., Mason R.J., Worthen G.S.
    J Immunol 175:7484-7495(2005) [PubMed] [Europe PMC] [Abstract]
• positive regulation of interleukin-8 production Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Toll-IL-1 receptor domain-containing adaptor protein is critical for early lung immune responses against Escherichia coli lipopolysaccharide and viable Escherichia coli."
    Jeyaseelan S., Manzer R., Young S.K., Yamamoto M., Akira S., Mason R.J., Worthen G.S.
    J Immunol 175:7484-7495(2005) [PubMed] [Europe PMC] [Abstract]
• positive regulation of JNK cascade Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.1

    "Mal (MyD88-adapter-like) is required for Toll-like receptor-4 signal transduction."
    Fitzgerald K.A., Palsson-McDermott E.M., Bowie A.G., Jefferies C.A., Mansell A.S., Brady G., Brint E., Dunne A., Gray P., Harte M.T., McMurray D., Smith D.E., Sims J.E., Bird T.A., O'Neill L.A.J.
    Nature 413:78-83(2001) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), MUTAGENESIS OF PRO-125, VARIANT ASN-55.
• positive regulation of neutrophil chemotaxis Source: BHF-UCL
• positive regulation of NF-kappaB transcription factor activity Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.14

    "A TIR domain variant of MyD88 adapter-like (Mal)/TIRAP results in loss of MyD88 binding and reduced TLR2/TLR4 signaling."
    Nagpal K., Plantinga T.S., Wong J., Monks B.G., Gay N.J., Netea M.G., Fitzgerald K.A., Golenbock D.T.
    J. Biol. Chem. 284:25742-25748(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH MYD88, VARIANT ASN-96, CHARACTERIZATION OF VARIANTS PRO-9; TRP-13; ASN-96; LEU-180 AND ILE-197.
• positive regulation of protein-containing complex assembly Source: BHF-UCLInferred from direct assayⁱ
  • "Involvement of TIRAP/MAL in signaling for the activation of interferon regulatory factor 3 by lipopolysaccharide."
    Shinobu N., Iwamura T., Yoneyama M., Yamaguchi K., Suhara W., Fukuhara Y., Amano F., Fujita T.
    FEBS Lett 517:251-256(2002) [PubMed] [Europe PMC] [Abstract]
• positive regulation of toll-like receptor 2 signaling pathway Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.14

    "A TIR domain variant of MyD88 adapter-like (Mal)/TIRAP results in loss of MyD88 binding and reduced TLR2/TLR4 signaling."
    Nagpal K., Plantinga T.S., Wong J., Monks B.G., Gay N.J., Netea M.G., Fitzgerald K.A., Golenbock D.T.
    J. Biol. Chem. 284:25742-25748(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH MYD88, VARIANT ASN-96, CHARACTERIZATION OF VARIANTS PRO-9; TRP-13; ASN-96; LEU-180 AND ILE-197.
• positive regulation of toll-like receptor 3 signaling pathway Source: BHF-UCL
• positive regulation of toll-like receptor 4 signaling pathway Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.14

    "A TIR domain variant of MyD88 adapter-like (Mal)/TIRAP results in loss of MyD88 binding and reduced TLR2/TLR4 signaling."
    Nagpal K., Plantinga T.S., Wong J., Monks B.G., Gay N.J., Netea M.G., Fitzgerald K.A., Golenbock D.T.
    J. Biol. Chem. 284:25742-25748(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH MYD88, VARIANT ASN-96, CHARACTERIZATION OF VARIANTS PRO-9; TRP-13; ASN-96; LEU-180 AND ILE-197.
• positive regulation of tumor necrosis factor production Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Toll-IL-1 receptor domain-containing adaptor protein is critical for early lung immune responses against Escherichia coli lipopolysaccharide and viable Escherichia coli."
    Jeyaseelan S., Manzer R., Young S.K., Yamamoto M., Akira S., Mason R.J., Worthen G.S.
    J Immunol 175:7484-7495(2005) [PubMed] [Europe PMC] [Abstract]
  • Ref.14

    "A TIR domain variant of MyD88 adapter-like (Mal)/TIRAP results in loss of MyD88 binding and reduced TLR2/TLR4 signaling."
    Nagpal K., Plantinga T.S., Wong J., Monks B.G., Gay N.J., Netea M.G., Fitzgerald K.A., Golenbock D.T.
    J. Biol. Chem. 284:25742-25748(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH MYD88, VARIANT ASN-96, CHARACTERIZATION OF VARIANTS PRO-9; TRP-13; ASN-96; LEU-180 AND ILE-197.
• regulation of innate immune response Source: BHF-UCL <p>Inferred by Curator</p> <p>Used for cases where an annotation is not supported by any evidence but can be reasonably inferred by a curator from other GO annotations for which evidence<br />is available.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ic">GO evidence code guide</a></p> Inferred by curatorⁱ
  • Ref.14

    "A TIR domain variant of MyD88 adapter-like (Mal)/TIRAP results in loss of MyD88 binding and reduced TLR2/TLR4 signaling."
    Nagpal K., Plantinga T.S., Wong J., Monks B.G., Gay N.J., Netea M.G., Fitzgerald K.A., Golenbock D.T.
    J. Biol. Chem. 284:25742-25748(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH MYD88, VARIANT ASN-96, CHARACTERIZATION OF VARIANTS PRO-9; TRP-13; ASN-96; LEU-180 AND ILE-197.
• regulation of interferon-beta production Source: BHF-UCL
• response to lipopolysaccharide Source: BHF-UCLInferred from direct assayⁱ
  • Ref.1

    "Mal (MyD88-adapter-like) is required for Toll-like receptor-4 signal transduction."
    Fitzgerald K.A., Palsson-McDermott E.M., Bowie A.G., Jefferies C.A., Mansell A.S., Brady G., Brint E., Dunne A., Gray P., Harte M.T., McMurray D., Smith D.E., Sims J.E., Bird T.A., O'Neill L.A.J.
    Nature 413:78-83(2001) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), MUTAGENESIS OF PRO-125, VARIANT ASN-55.
• TIRAP-dependent toll-like receptor 4 signaling pathway Source: BHF-UCLInferred from direct assayⁱ
  • Ref.1

    "Mal (MyD88-adapter-like) is required for Toll-like receptor-4 signal transduction."
    Fitzgerald K.A., Palsson-McDermott E.M., Bowie A.G., Jefferies C.A., Mansell A.S., Brady G., Brint E., Dunne A., Gray P., Harte M.T., McMurray D., Smith D.E., Sims J.E., Bird T.A., O'Neill L.A.J.
    Nature 413:78-83(2001) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), MUTAGENESIS OF PRO-125, VARIANT ASN-55.

<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

Protein family/group 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

Mutagenesis

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

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

• identical protein binding Source: IntActInferred from physical interactionⁱ
  • "MAPPIT analysis of TLR adaptor complexes."
    Ulrichts P., Peelman F., Beyaert R., Tavernier J.
    FEBS Lett 581:629-636(2007) [PubMed] [Europe PMC] [Abstract]
  • "Crystal structures of the Toll/Interleukin-1 receptor (TIR) domains from the Brucella protein TcpB and host adaptor TIRAP reveal mechanisms of molecular mimicry."
    Snyder G.A., Deredge D., Waldhuber A., Fresquez T., Wilkins D.Z., Smith P.T., Durr S., Cirl C., Jiang J., Jennings W., Luchetti T., Snyder N., Sundberg E.J., Wintrode P., Miethke T., Xiao T.S.
    J Biol Chem 289:669-679(2014) [PubMed] [Europe PMC] [Abstract]
• protein kinase C binding Source: BHF-UCLInferred from physical interactionⁱ
  • "Protein kinase Cdelta binds TIRAP/Mal to participate in TLR signaling."
    Kubo-Murai M., Hazeki K., Sukenobu N., Yoshikawa K., Nigorikawa K., Inoue K., Yamamoto T., Matsumoto M., Seya T., Inoue N., Hazeki O.
    Mol Immunol 44:2257-2264(2007) [PubMed] [Europe PMC] [Abstract]
• Toll-like receptor 2 binding Source: BHF-UCLInferred from physical interactionⁱ
  • Ref.14

    "A TIR domain variant of MyD88 adapter-like (Mal)/TIRAP results in loss of MyD88 binding and reduced TLR2/TLR4 signaling."
    Nagpal K., Plantinga T.S., Wong J., Monks B.G., Gay N.J., Netea M.G., Fitzgerald K.A., Golenbock D.T.
    J. Biol. Chem. 284:25742-25748(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH MYD88, VARIANT ASN-96, CHARACTERIZATION OF VARIANTS PRO-9; TRP-13; ASN-96; LEU-180 AND ILE-197.
• Toll-like receptor 4 binding Source: BHF-UCLInferred from physical interactionⁱ
  • Ref.14

    "A TIR domain variant of MyD88 adapter-like (Mal)/TIRAP results in loss of MyD88 binding and reduced TLR2/TLR4 signaling."
    Nagpal K., Plantinga T.S., Wong J., Monks B.G., Gay N.J., Netea M.G., Fitzgerald K.A., Golenbock D.T.
    J. Biol. Chem. 284:25742-25748(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH MYD88, VARIANT ASN-96, CHARACTERIZATION OF VARIANTS PRO-9; TRP-13; ASN-96; LEU-180 AND ILE-197.

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

<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

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 1 potential isoform that is computationally mapped.Show allAlign All

        10         20         30         40         50
MASSTSLPAP GSRPKKPLGK MADWFRQTLL KKPKKRPNSP ESTSSDASQP 
        60         70         80         90        100
TSQDSPLPPS LSSVTSPSLP PTHASDSGSS RWSKDYDVCV CHSEEDLVAA 
       110        120        130        140        150
QDLVSYLEGS TASLRCFLQL RDATPGGAIV SELCQALSSS HCRVLLITPG 
       160        170        180        190        200
FLQDPWCKYQ MLQALTEAPG AEGCTIPLLS GLSRAAYPPE LRFMYYVDGR 
       210        220 
GPDGGFRQVK EAVMRYLQTL S                                

        10         20         30         40         50
MASSTSLPAP GSRPKKPLGK MADWFRQTLL KKPKKRPNSP ESTSSDASQP 
        60         70         80         90        100
TSQDSPLPPS LSSVTSPSLP PTHASDSGSS RWSKDYDVCV CHSEEDLVAA 
       110        120        130        140        150
QDLVSYLEGS TASLRCFLQL RDATPGGAIV SELCQALSSS HCRVLLITPG 
       160        170        180        190        200
FLQDPWCKYQ MLQALTEAPG AEGCTIPLLS GLSRAAYPPE LRFMYYVDGR 
       210        220        230 
GPDGGFRQVK EAVMRCKLLQ EGEGERDSAT VSDLL                 

        10         20         30         40         50
MASSTSLPAP GSRPKKPLGK MADWFRQTLL KKPKKRPNSP ESTSSDASQP 
        60         70         80         90        100
TSQDSPLPPS LSSVTSPSLP PTHASDSGSS RWSKDYDVCV CHSEEDLVAA 
       110        120        130        140        150
QDLVSYLEGS TASLRCFLQL RDATPGGAIV SELCQALSSS HCRVLLITPG 
       160        170        180        190        200
FLQDPWCKYQ MLQALTEAPG AEGCTIPLLS GLSRAAYPPE LRFMYYVDGR 
       210        220        230        240        250
GPDGGFRQVK EAVMRYLQTL WHLLYHGTPE IGVKLETENP CRASDSHKCD 

KRYRE                                                  

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismⁱ

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

Protein family/group 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. PDB cross-references
   Index of Protein Data Bank (PDB) cross-references
4. Human chromosome 11
   Human chromosome 11: entries, gene names and cross-references to MIM
5. Human entries with polymorphisms or disease mutations
   List of human entries with polymorphisms or disease mutations