Low density lipoprotein receptor adapter protein 1

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• amyloid-beta binding Source: BHF-UCL <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • "Autosomal recessive hypercholesterolemia protein interacts with and regulates the cell surface level of Alzheimer's amyloid beta precursor protein."
    Noviello C., Vito P., Lopez P., Abdallah M., D'Adamio L.
    J Biol Chem 278:31843-31847(2003) [PubMed] [Europe PMC] [Abstract]
• AP-1 adaptor complex 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%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • Ref.7

    "The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery."
    Mishra S.K., Watkins S.C., Traub L.M.
    Proc. Natl. Acad. Sci. U.S.A. 99:16099-16104(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: CHARACTERIZATION, INTERACTION WITH CLATHRIN AND AP-2 COMPLEX, SUBCELLULAR LOCATION.
• AP-2 adaptor complex binding Source: UniProtKBInferred from direct assayⁱ
  • Ref.7

    "The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery."
    Mishra S.K., Watkins S.C., Traub L.M.
    Proc. Natl. Acad. Sci. U.S.A. 99:16099-16104(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: CHARACTERIZATION, INTERACTION WITH CLATHRIN AND AP-2 COMPLEX, SUBCELLULAR LOCATION.
• clathrin adaptor activity Source: BHF-UCLInferred from direct assayⁱ
  • Ref.8

    "Functional dissection of an AP-2 beta2 appendage-binding sequence within the autosomal recessive hypercholesterolemia protein."
    Mishra S.K., Keyel P.A., Edeling M.A., Dupin A.L., Owen D.J., Traub L.M.
    J. Biol. Chem. 280:19270-19280(2005) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH AP2B1.
• clathrin binding Source: UniProtKBInferred from direct assayⁱ
  • Ref.7

    "The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery."
    Mishra S.K., Watkins S.C., Traub L.M.
    Proc. Natl. Acad. Sci. U.S.A. 99:16099-16104(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: CHARACTERIZATION, INTERACTION WITH CLATHRIN AND AP-2 COMPLEX, SUBCELLULAR LOCATION.
• low-density lipoprotein particle receptor binding Source: BHF-UCLInferred from physical interactionⁱ
  • Ref.6

    "ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2."
    He G., Gupta S., Yi M., Michaely P., Hobbs H.H., Cohen J.C.
    J. Biol. Chem. 277:44044-44049(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH LDLR; CLATHRIN AND AP-2 COMPLEX, MUTAGENESIS OF PHE-165; 212-LEU-LEU-213; ASP-214; GLU-216 AND ARG-266, MOTIF, REGION.
  • "The adaptor protein ARH escorts megalin to and through endosomes."
    Nagai M., Meerloo T., Takeda T., Farquhar M.G.
    Mol Biol Cell 14:4984-4996(2003) [PubMed] [Europe PMC] [Abstract]
• phosphatidylinositol-4,5-bisphosphate binding Source: BHF-UCLInferred from direct assayⁱ
  • Ref.7

    "The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery."
    Mishra S.K., Watkins S.C., Traub L.M.
    Proc. Natl. Acad. Sci. U.S.A. 99:16099-16104(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: CHARACTERIZATION, INTERACTION WITH CLATHRIN AND AP-2 COMPLEX, SUBCELLULAR LOCATION.
• phosphotyrosine residue binding Source: UniProtKBInferred from direct assayⁱ
  • Ref.7

    "The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery."
    Mishra S.K., Watkins S.C., Traub L.M.
    Proc. Natl. Acad. Sci. U.S.A. 99:16099-16104(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: CHARACTERIZATION, INTERACTION WITH CLATHRIN AND AP-2 COMPLEX, SUBCELLULAR LOCATION.
• signaling adaptor activity Source: BHF-UCLInferred from direct assayⁱ
  • Ref.6

    "ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2."
    He G., Gupta S., Yi M., Michaely P., Hobbs H.H., Cohen J.C.
    J. Biol. Chem. 277:44044-44049(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH LDLR; CLATHRIN AND AP-2 COMPLEX, MUTAGENESIS OF PHE-165; 212-LEU-LEU-213; ASP-214; GLU-216 AND ARG-266, MOTIF, REGION.
• signaling receptor complex adaptor activity 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%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits."
    Michaely P., Li W.-P., Anderson R.G.W., Cohen J.C., Hobbs H.H.
    J. Biol. Chem. 279:34023-34031(2004) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• amyloid precursor protein metabolic process Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Autosomal recessive hypercholesterolemia protein interacts with and regulates the cell surface level of Alzheimer's amyloid beta precursor protein."
    Noviello C., Vito P., Lopez P., Abdallah M., D'Adamio L.
    J Biol Chem 278:31843-31847(2003) [PubMed] [Europe PMC] [Abstract]
• cellular response to cytokine stimulus Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Induction of MiR133a expression by IL-19 targets LDLRAP1 and reduces oxLDL uptake in VSMC."
    Gabunia K., Herman A.B., Ray M., Kelemen S.E., England R.N., DeLa Cadena R., Foster W.J., Elliott K.J., Eguchi S., Autieri M.V.
    J Mol Cell Cardiol 105:38-48(2017) [PubMed] [Europe PMC] [Abstract]
• cholesterol homeostasis Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits."
    Michaely P., Li W.-P., Anderson R.G.W., Cohen J.C., Hobbs H.H.
    J. Biol. Chem. 279:34023-34031(2004) [PubMed] [Europe PMC] [Abstract]
• cholesterol metabolic process Source: UniProtKB <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#nas">GO evidence code guide</a></p> Non-traceable author statementⁱ
  • Ref.7

    "The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery."
    Mishra S.K., Watkins S.C., Traub L.M.
    Proc. Natl. Acad. Sci. U.S.A. 99:16099-16104(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: CHARACTERIZATION, INTERACTION WITH CLATHRIN AND AP-2 COMPLEX, SUBCELLULAR LOCATION.
• cholesterol transport Source: UniProtKBNon-traceable author statementⁱ
  • Ref.7

    "The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery."
    Mishra S.K., Watkins S.C., Traub L.M.
    Proc. Natl. Acad. Sci. U.S.A. 99:16099-16104(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: CHARACTERIZATION, INTERACTION WITH CLATHRIN AND AP-2 COMPLEX, SUBCELLULAR LOCATION.
• low-density lipoprotein particle clearance Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.2

    "Molecular mechanisms of autosomal recessive hypercholesterolemia."
    Wilund K.R., Yi M., Campagna F., Arca M., Zuliani G., Fellin R., Ho Y.K., Garcia J.V., Hobbs H.H., Cohen J.C.
    Hum. Mol. Genet. 11:3019-3030(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PRO-202.
  • "Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1."
    Eden E.R., Patel D.D., Sun X.M., Burden J.J., Themis M., Edwards M., Lee P., Neuwirth C., Naoumova R.P., Soutar A.K.
    J Clin Invest 110:1695-1702(2002) [PubMed] [Europe PMC] [Abstract]
  • "The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits."
    Michaely P., Li W.-P., Anderson R.G.W., Cohen J.C., Hobbs H.H.
    J. Biol. Chem. 279:34023-34031(2004) [PubMed] [Europe PMC] [Abstract]
• membrane organization Source: Reactome
• positive regulation of cholesterol metabolic process 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
  • "The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits."
    Michaely P., Li W.-P., Anderson R.G.W., Cohen J.C., Hobbs H.H.
    J. Biol. Chem. 279:34023-34031(2004) [PubMed] [Europe PMC] [Abstract]
• positive regulation of low-density lipoprotein particle clearance Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Induction of MiR133a expression by IL-19 targets LDLRAP1 and reduces oxLDL uptake in VSMC."
    Gabunia K., Herman A.B., Ray M., Kelemen S.E., England R.N., DeLa Cadena R., Foster W.J., Elliott K.J., Eguchi S., Autieri M.V.
    J Mol Cell Cardiol 105:38-48(2017) [PubMed] [Europe PMC] [Abstract]
• positive regulation of receptor-mediated endocytosis Source: UniProtKBInferred from mutant phenotypeⁱ
  • "The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits."
    Michaely P., Li W.-P., Anderson R.G.W., Cohen J.C., Hobbs H.H.
    J. Biol. Chem. 279:34023-34031(2004) [PubMed] [Europe PMC] [Abstract]
• positive regulation of receptor-mediated endocytosis involved in cholesterol transport Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.2

    "Molecular mechanisms of autosomal recessive hypercholesterolemia."
    Wilund K.R., Yi M., Campagna F., Arca M., Zuliani G., Fellin R., Ho Y.K., Garcia J.V., Hobbs H.H., Cohen J.C.
    Hum. Mol. Genet. 11:3019-3030(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PRO-202.
  • "Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1."
    Eden E.R., Patel D.D., Sun X.M., Burden J.J., Themis M., Edwards M., Lee P., Neuwirth C., Naoumova R.P., Soutar A.K.
    J Clin Invest 110:1695-1702(2002) [PubMed] [Europe PMC] [Abstract]
  • "The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits."
    Michaely P., Li W.-P., Anderson R.G.W., Cohen J.C., Hobbs H.H.
    J. Biol. Chem. 279:34023-34031(2004) [PubMed] [Europe PMC] [Abstract]
• positive regulation of vascular associated smooth muscle cell proliferation Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Induction of MiR133a expression by IL-19 targets LDLRAP1 and reduces oxLDL uptake in VSMC."
    Gabunia K., Herman A.B., Ray M., Kelemen S.E., England R.N., DeLa Cadena R., Foster W.J., Elliott K.J., Eguchi S., Autieri M.V.
    J Mol Cell Cardiol 105:38-48(2017) [PubMed] [Europe PMC] [Abstract]
• receptor internalization Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits."
    Michaely P., Li W.-P., Anderson R.G.W., Cohen J.C., Hobbs H.H.
    J. Biol. Chem. 279:34023-34031(2004) [PubMed] [Europe PMC] [Abstract]
• receptor-mediated endocytosis Source: BHF-UCLInferred from direct assayⁱ
  • "The adaptor protein ARH escorts megalin to and through endosomes."
    Nagai M., Meerloo T., Takeda T., Farquhar M.G.
    Mol Biol Cell 14:4984-4996(2003) [PubMed] [Europe PMC] [Abstract]
• receptor-mediated endocytosis involved in cholesterol transport Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.2

    "Molecular mechanisms of autosomal recessive hypercholesterolemia."
    Wilund K.R., Yi M., Campagna F., Arca M., Zuliani G., Fellin R., Ho Y.K., Garcia J.V., Hobbs H.H., Cohen J.C.
    Hum. Mol. Genet. 11:3019-3030(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PRO-202.
  • "Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1."
    Eden E.R., Patel D.D., Sun X.M., Burden J.J., Themis M., Edwards M., Lee P., Neuwirth C., Naoumova R.P., Soutar A.K.
    J Clin Invest 110:1695-1702(2002) [PubMed] [Europe PMC] [Abstract]
  • "The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits."
    Michaely P., Li W.-P., Anderson R.G.W., Cohen J.C., Hobbs H.H.
    J. Biol. Chem. 279:34023-34031(2004) [PubMed] [Europe PMC] [Abstract]
• regulation of protein binding Source: UniProtKBInferred from mutant phenotypeⁱ
  • "The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits."
    Michaely P., Li W.-P., Anderson R.G.W., Cohen J.C., Hobbs H.H.
    J. Biol. Chem. 279:34023-34031(2004) [PubMed] [Europe PMC] [Abstract]
• regulation of protein localization to plasma membrane Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Autosomal recessive hypercholesterolemia protein interacts with and regulates the cell surface level of Alzheimer's amyloid beta precursor protein."
    Noviello C., Vito P., Lopez P., Abdallah M., D'Adamio L.
    J Biol Chem 278:31843-31847(2003) [PubMed] [Europe PMC] [Abstract]

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Mutagenesis

Keywords - Diseaseⁱ

Organism-specific databases

Miscellaneous databases

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

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

• clathrin adaptor activity Source: BHF-UCLInferred from direct assayⁱ
  • Ref.8

    "Functional dissection of an AP-2 beta2 appendage-binding sequence within the autosomal recessive hypercholesterolemia protein."
    Mishra S.K., Keyel P.A., Edeling M.A., Dupin A.L., Owen D.J., Traub L.M.
    J. Biol. Chem. 280:19270-19280(2005) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH AP2B1.
• clathrin binding Source: UniProtKBInferred from direct assayⁱ
  • Ref.7

    "The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery."
    Mishra S.K., Watkins S.C., Traub L.M.
    Proc. Natl. Acad. Sci. U.S.A. 99:16099-16104(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: CHARACTERIZATION, INTERACTION WITH CLATHRIN AND AP-2 COMPLEX, SUBCELLULAR LOCATION.
• low-density lipoprotein particle receptor binding Source: BHF-UCLInferred from physical interactionⁱ
  • Ref.6

    "ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2."
    He G., Gupta S., Yi M., Michaely P., Hobbs H.H., Cohen J.C.
    J. Biol. Chem. 277:44044-44049(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH LDLR; CLATHRIN AND AP-2 COMPLEX, MUTAGENESIS OF PHE-165; 212-LEU-LEU-213; ASP-214; GLU-216 AND ARG-266, MOTIF, REGION.
  • "The adaptor protein ARH escorts megalin to and through endosomes."
    Nagai M., Meerloo T., Takeda T., Farquhar M.G.
    Mol Biol Cell 14:4984-4996(2003) [PubMed] [Europe PMC] [Abstract]
• phosphotyrosine residue binding Source: UniProtKBInferred from direct assayⁱ
  • Ref.7

    "The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery."
    Mishra S.K., Watkins S.C., Traub L.M.
    Proc. Natl. Acad. Sci. U.S.A. 99:16099-16104(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: CHARACTERIZATION, INTERACTION WITH CLATHRIN AND AP-2 COMPLEX, SUBCELLULAR LOCATION.

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

Domains and Repeats

Region

Motif

Compositional bias

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domainⁱ

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>Sequenceⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

        10         20         30         40         50
MDALKSAGRA LIRSPSLAKQ SWGGGGRHRK LPENWTDTRE TLLEGMLFSL 
        60         70         80         90        100
KYLGMTLVEQ PKGEELSAAA IKRIVATAKA SGKKLQKVTL KVSPRGIILT 
       110        120        130        140        150
DNLTNQLIEN VSIYRISYCT ADKMHDKVFA YIAQSQHNQS LECHAFLCTK 
       160        170        180        190        200
RKMAQAVTLT VAQAFKVAFE FWQVSKEEKE KRDKASQEGG DVLGARQDCT 
       210        220        230        240        250
PSLKSLVATG NLLDLEETAK APLSTVSANT TNMDEVPRPQ ALSGSSVVWE 
       260        270        280        290        300
LDDGLDEAFS RLAQSRTNPQ VLDTGLTAQD MHYAQCLSPV DWDKPDSSGT 

EQDDLFSF                                               

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityⁱ

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 90% Identity
• 50% Identity

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

Sequence databases

3D structure databases

Protein-protein interaction databases

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 1
   Human chromosome 1: 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