Anoctamin-6

<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

Miscellaneous

Caution

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityⁱ

• a 1,2-diacyl-sn-glycero-3-phospho-L-serine

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (in) = a 1,2-diacyl-sn-glycero-3-phospho-L-serine

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (out)By similarity

  Manual assertion inferred from sequence similarity toⁱ

  • UniProtKB:Q6P9J9 (ANO6_MOUSE)
  This reaction proceeds in the forward

  • Search for this reaction in UniProtKB.
  • See the description of this reaction in Rhea.

  By similarity

  Manual assertion inferred from sequence similarity toⁱ

  • UniProtKB:Q6P9J9 (ANO6_MOUSE)

  direction.
  Source: Rhea

  • Search for this reaction in UniProtKB.
  • See the description of this reaction in Rhea.

  . Show »« Hide
  a 1,2-diacyl-sn-glycero-3-phospho-L-serine

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (in)

  zoom

  =

  a 1,2-diacyl-sn-glycero-3-phospho-L-serine

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (out)

  zoom
• a β-D-galactosyl-(1↔1ʼ)-N-acylsphing-4-enine

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (out) = a β-D-galactosyl-(1↔1ʼ)-N-acylsphing-4-enine

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (in)By similarity

  Manual assertion inferred from sequence similarity toⁱ

  • UniProtKB:Q6P9J9 (ANO6_MOUSE)
  This reaction proceeds in the forward

  • Search for this reaction in UniProtKB.
  • See the description of this reaction in Rhea.

  By similarity

  Manual assertion inferred from sequence similarity toⁱ

  • UniProtKB:Q6P9J9 (ANO6_MOUSE)

  direction.
  Source: Rhea

  • Search for this reaction in UniProtKB.
  • See the description of this reaction in Rhea.

  . Show »« Hide
  a β-D-galactosyl-(1↔1ʼ)-N-acylsphing-4-enine

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (out)

  zoom

  =

  a β-D-galactosyl-(1↔1ʼ)-N-acylsphing-4-enine

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (in)

  zoom
• a 1,2-diacyl-sn-glycero-3-phosphocholine

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (in) = a 1,2-diacyl-sn-glycero-3-phosphocholine

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (out)By similarity

  Manual assertion inferred from sequence similarity toⁱ

  • UniProtKB:Q6P9J9 (ANO6_MOUSE)
  This reaction proceeds in the backward

  • Search for this reaction in UniProtKB.
  • See the description of this reaction in Rhea.

  By similarity

  Manual assertion inferred from sequence similarity toⁱ

  • UniProtKB:Q6P9J9 (ANO6_MOUSE)

  direction.
  Source: Rhea

  • Search for this reaction in UniProtKB.
  • See the description of this reaction in Rhea.

  . Show »« Hide
  a 1,2-diacyl-sn-glycero-3-phosphocholine

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (in)

  zoom

  =

  a 1,2-diacyl-sn-glycero-3-phosphocholine

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (out)

  zoom

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationⁱ

Sites

<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

• calcium activated cation channel activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • Ref.15

    "Anoctamins are a family of Ca2+ activated Cl- channels."
    Tian Y., Schreiber R., Kunzelmann K.
    J. Cell Sci. 125:4991-4998(2012) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBCELLULAR LOCATION.
• chloride channel activity Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• intracellular calcium activated chloride channel 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
  • Ref.15

    "Anoctamins are a family of Ca2+ activated Cl- channels."
    Tian Y., Schreiber R., Kunzelmann K.
    J. Cell Sci. 125:4991-4998(2012) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBCELLULAR LOCATION.
• metal ion binding Source: UniProtKB-KW
• phospholipid scramblase activity Source: Ensembl
• protein homodimerization activity Source: Ensembl
• voltage-gated chloride channel activity Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.10

    "Anoctamin 6 is an essential component of the outwardly rectifying chloride channel."
    Martins J.R., Faria D., Kongsuphol P., Reisch B., Schreiber R., Kunzelmann K.
    Proc. Natl. Acad. Sci. U.S.A. 108:18168-18172(2011) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION.
• voltage-gated ion channel activity Source: UniProtKB

GO - Biological processⁱ

• activation of blood coagulation via clotting cascade Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.7

    "Calcium-dependent phospholipid scrambling by TMEM16F."
    Suzuki J., Umeda M., Sims P.J., Nagata S.
    Nature 468:834-838(2010) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN SCOTT SYNDROME.
• bleb assembly Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Anoctamin 6 mediates effects essential for innate immunity downstream of P2X7 receptors in macrophages."
    Ousingsawat J., Wanitchakool P., Kmit A., Romao A.M., Jantarajit W., Schreiber R., Kunzelmann K.
    Nat Commun 6:6245-6245(2015) [PubMed] [Europe PMC] [Abstract]
• blood coagulation Source: UniProtKB
• bone mineralization involved in bone maturation Source: Ensembl
• calcium activated galactosylceramide scrambling Source: Ensembl
• calcium activated phosphatidylcholine scrambling Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• calcium activated phosphatidylserine scrambling Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• calcium ion transmembrane transport Source: UniProtKB <p>Inferred from Genetic Interaction</p> <p>Used to describe "traditional" genetic interactions such as suppressors and synthetic lethals as well as other techniques such as functional complementation, rescue experiments, or inferences about a gene drawn from the phenotype of a mutation in a different gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#igi">GO evidence code guide</a></p> Inferred from genetic interactionⁱ
  • "Anoctamin-6 controls bone mineralization by activating the calcium transporter NCX1."
    Ousingsawat J., Wanitchakool P., Schreiber R., Wuelling M., Vortkamp A., Kunzelmann K.
    J Biol Chem 290:6270-6280(2015) [PubMed] [Europe PMC] [Abstract]
• cation transport Source: UniProtKBInferred from direct assayⁱ
  • Ref.15

    "Anoctamins are a family of Ca2+ activated Cl- channels."
    Tian Y., Schreiber R., Kunzelmann K.
    J. Cell Sci. 125:4991-4998(2012) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBCELLULAR LOCATION.
• chloride transmembrane transport Source: UniProtKBInferred from genetic interactionⁱ
  • "Anoctamin-6 controls bone mineralization by activating the calcium transporter NCX1."
    Ousingsawat J., Wanitchakool P., Schreiber R., Wuelling M., Vortkamp A., Kunzelmann K.
    J Biol Chem 290:6270-6280(2015) [PubMed] [Europe PMC] [Abstract]
• chloride transport Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.10

    "Anoctamin 6 is an essential component of the outwardly rectifying chloride channel."
    Martins J.R., Faria D., Kongsuphol P., Reisch B., Schreiber R., Kunzelmann K.
    Proc. Natl. Acad. Sci. U.S.A. 108:18168-18172(2011) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION.
  • Ref.15

    "Anoctamins are a family of Ca2+ activated Cl- channels."
    Tian Y., Schreiber R., Kunzelmann K.
    J. Cell Sci. 125:4991-4998(2012) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBCELLULAR LOCATION.
• dendritic cell chemotaxis Source: Ensembl
• ion transmembrane transport Source: Reactome
• negative regulation of cell volume Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Anoctamin 6 mediates effects essential for innate immunity downstream of P2X7 receptors in macrophages."
    Ousingsawat J., Wanitchakool P., Kmit A., Romao A.M., Jantarajit W., Schreiber R., Kunzelmann K.
    Nat Commun 6:6245-6245(2015) [PubMed] [Europe PMC] [Abstract]
• neutrophil degranulation Source: Reactome
• phosphatidylserine exposure on blood platelet Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.7

    "Calcium-dependent phospholipid scrambling by TMEM16F."
    Suzuki J., Umeda M., Sims P.J., Nagata S.
    Nature 468:834-838(2010) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN SCOTT SYNDROME.
• plasma membrane phospholipid scrambling Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Anoctamin 6 mediates effects essential for innate immunity downstream of P2X7 receptors in macrophages."
    Ousingsawat J., Wanitchakool P., Kmit A., Romao A.M., Jantarajit W., Schreiber R., Kunzelmann K.
    Nat Commun 6:6245-6245(2015) [PubMed] [Europe PMC] [Abstract]
• pore complex assembly Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Anoctamin 6 mediates effects essential for innate immunity downstream of P2X7 receptors in macrophages."
    Ousingsawat J., Wanitchakool P., Kmit A., Romao A.M., Jantarajit W., Schreiber R., Kunzelmann K.
    Nat Commun 6:6245-6245(2015) [PubMed] [Europe PMC] [Abstract]
• positive regulation of apoptotic process Source: UniProtKB
• positive regulation of bone mineralization Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Anoctamin-6 controls bone mineralization by activating the calcium transporter NCX1."
    Ousingsawat J., Wanitchakool P., Schreiber R., Wuelling M., Vortkamp A., Kunzelmann K.
    J Biol Chem 290:6270-6280(2015) [PubMed] [Europe PMC] [Abstract]
• positive regulation of endothelial cell apoptotic process Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.10

    "Anoctamin 6 is an essential component of the outwardly rectifying chloride channel."
    Martins J.R., Faria D., Kongsuphol P., Reisch B., Schreiber R., Kunzelmann K.
    Proc. Natl. Acad. Sci. U.S.A. 108:18168-18172(2011) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION.
• positive regulation of ion transmembrane transport Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Anoctamin 6 mediates effects essential for innate immunity downstream of P2X7 receptors in macrophages."
    Ousingsawat J., Wanitchakool P., Kmit A., Romao A.M., Jantarajit W., Schreiber R., Kunzelmann K.
    Nat Commun 6:6245-6245(2015) [PubMed] [Europe PMC] [Abstract]
• positive regulation of monocyte chemotaxis Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Anoctamin 6 mediates effects essential for innate immunity downstream of P2X7 receptors in macrophages."
    Ousingsawat J., Wanitchakool P., Kmit A., Romao A.M., Jantarajit W., Schreiber R., Kunzelmann K.
    Nat Commun 6:6245-6245(2015) [PubMed] [Europe PMC] [Abstract]
• positive regulation of phagocytosis, engulfment Source: UniProtKB
• positive regulation of potassium ion export across plasma membrane Source: BHF-UCL
• purinergic nucleotide receptor signaling pathway Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Anoctamin 6 mediates effects essential for innate immunity downstream of P2X7 receptors in macrophages."
    Ousingsawat J., Wanitchakool P., Kmit A., Romao A.M., Jantarajit W., Schreiber R., Kunzelmann K.
    Nat Commun 6:6245-6245(2015) [PubMed] [Europe PMC] [Abstract]
• sodium ion transmembrane transport Source: UniProtKBInferred from genetic interactionⁱ
  • "Anoctamin-6 controls bone mineralization by activating the calcium transporter NCX1."
    Ousingsawat J., Wanitchakool P., Schreiber R., Wuelling M., Vortkamp A., Kunzelmann K.
    J Biol Chem 290:6270-6280(2015) [PubMed] [Europe PMC] [Abstract]
• transmembrane transport Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]

<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

Topology

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

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

GO - Molecular functionⁱ

• protein homodimerization activity Source: Ensembl

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)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 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

        10         20         30         40         50
MKKMSRNVLL QMEEEEDDDD GDIVLENLGQ TIVPDLGSLE SQHDFRTPEF 
        60         70         80         90        100
EEFNGKPDSL FFNDGQRRID FVLVYEDESR KETNKKGTNE KQRRKRQAYE 
       110        120        130        140        150
SNLICHGLQL EATRSVLDDK LVFVKVHAPW EVLCTYAEIM HIKLPLKPND 
       160        170        180        190        200
LKNRSSAFGT LNWFTKVLSV DESIIKPEQE FFTAPFEKNR MNDFYIVDRD 
       210        220        230        240        250
AFFNPATRSR IVYFILSRVK YQVINNVSKF GINRLVNSGI YKAAFPLHDC 
       260        270        280        290        300
KFRRQSEDPS CPNERYLLYR EWAHPRSIYK KQPLDLIRKY YGEKIGIYFA 
       310        320        330        340        350
WLGYYTQMLL LAAVVGVACF LYGYLNQDNC TWSKEVCHPD IGGKIIMCPQ 
       360        370        380        390        400
CDRLCPFWKL NITCESSKKL CIFDSFGTLV FAVFMGVWVT LFLEFWKRRQ 
       410        420        430        440        450
AELEYEWDTV ELQQEEQARP EYEARCTHVV INEITQEEER IPFTAWGKCI 
       460        470        480        490        500
RITLCASAVF FWILLIIASV IGIIVYRLSV FIVFSAKLPK NINGTDPIQK 
       510        520        530        540        550
YLTPQTATSI TASIISFIII MILNTIYEKV AIMITNFELP RTQTDYENSL 
       560        570        580        590        600
TMKMFLFQFV NYYSSCFYIA FFKGKFVGYP GDPVYWLGKY RNEECDPGGC 
       610        620        630        640        650
LLELTTQLTI IMGGKAIWNN IQEVLLPWIM NLIGRFHRVS GSEKITPRWE 
       660        670        680        690        700
QDYHLQPMGK LGLFYEYLEM IIQFGFVTLF VASFPLAPLL ALVNNILEIR 
       710        720        730        740        750
VDAWKLTTQF RRLVPEKAQD IGAWQPIMQG IAILAVVTNA MIIAFTSDMI 
       760        770        780        790        800
PRLVYYWSFS VPPYGDHTSY TMEGYINNTL SIFKVADFKN KSKGNPYSDL 
       810        820        830        840        850
GNHTTCRYRD FRYPPGHPQE YKHNIYYWHV IAAKLAFIIV MEHVIYSVKF 
       860        870        880        890        900
FISYAIPDVS KRTKSKIQRE KYLTQKLLHE NHLKDMTKNM GVIAERMIEA 
       910
VDNNLRPKSE                                             

        10         20         30         40         50
MKKMSRNVLL QMEEEEDDDD GDIGDVPASR RPFLTPHTHL PSSLVLENLG 
        60         70         80         90        100
QTIVPDLGSL ESQHDFRTPE FEEFNGKPDS LFFNDGQRRI DFVLVYEDES 
       110        120        130        140        150
RKETNKKGTN EKQRRKRQAY ESNLICHGLQ LEATRSVLDD KLVFVKVHAP 
       160        170        180        190        200
WEVLCTYAEI MHIKLPLKPN DLKNRSSAFG TLNWFTKVLS VDESIIKPEQ 
       210        220        230        240        250
EFFTAPFEKN RMNDFYIVDR DAFFNPATRS RIVYFILSRV KYQVINNVSK 
       260        270        280        290        300
FGINRLVNSG IYKAAFPLHD CKFRRQSEDP SCPNERYLLY REWAHPRSIY 
       310        320        330        340        350
KKQPLDLIRK YYGEKIGIYF AWLGYYTQML LLAAVVGVAC FLYGYLNQDN 
       360        370        380        390        400
CTWSKEVCHP DIGGKIIMCP QCDRLCPFWK LNITCESSKK LCIFDSFGTL 
       410        420        430        440        450
VFAVFMGVWV TLFLEFWKRR QAELEYEWDT VELQQEEQAR PEYEARCTHV 
       460        470        480        490        500
VINEITQEEE RIPFTAWGKC IRITLCASAV FFWILLIIAS VIGIIVYRLS 
       510        520        530        540        550
VFIVFSAKLP KNINGTDPIQ KYLTPQTATS ITASIISFII IMILNTIYEK 
       560        570        580        590        600
VAIMITNFEL PRTQTDYENS LTMKMFLFQF VNYYSSCFYI AFFKGKFVGY 
       610        620        630        640        650
PGDPVYWLGK YRNEECDPGG CLLELTTQLT IIMGGKAIWN NIQEVLLPWI 
       660        670        680        690        700
MNLIGRFHRV SGSEKITPRW EQDYHLQPMG KLGLFYEYLE MIIQFGFVTL 
       710        720        730        740        750
FVASFPLAPL LALVNNILEI RVDAWKLTTQ FRRLVPEKAQ DIGAWQPIMQ 
       760        770        780        790        800
GIAILAVVTN AMIIAFTSDM IPRLVYYWSF SVPPYGDHTS YTMEGYINNT 
       810        820        830        840        850
LSIFKVADFK NKSKGNPYSD LGNHTTCRYR DFRYPPGHPQ EYKHNIYYWH 
       860        870        880        890        900
VIAAKLAFII VMEHVIYSVK FFISYAIPDV SKRTKSKIQR EKYLTQKLLH 
       910        920        930 
ENHLKDMTKN MGVIAERMIE AVDNNLRPKS E                     

        10         20         30         40         50
MFCAAVLENL GQTIVPDLGS LESQHDFRTP EFEEFNGKPD SLFFNDGQRR 
        60         70         80         90        100
IDFVLVYEDE SRKETNKKGT NEKQRRKRQA YESNLICHGL QLEATRSVLD 
       110        120        130        140        150
DKLVFVKVHA PWEVLCTYAE IMHIKLPLKP NDLKNRSSAF GTLNWFTKVL 
       160        170        180        190        200
SVDESIIKPE QEFFTAPFEK NRMNDFYIVD RDAFFNPATR SRIVYFILSR 
       210        220        230        240        250
VKYQVINNVS KFGINRLVNS GIYKAAFPLH DCKFRRQSED PSCPNERYLL 
       260        270        280        290        300
YREWAHPRSI YKKQPLDLIR KYYGEKIGIY FAWLGYYTQM LLLAAVVGVA 
       310        320        330        340        350
CFLYGYLNQD NCTWSKEVCH PDIGGKIIMC PQCDRLCPFW KLNITCESSK 
       360        370        380        390        400
KLCIFDSFGT LVFAVFMGVW VTLFLEFWKR RQAELEYEWD TVELQQEEQA 
       410        420        430        440        450
RPEYEARCTH VVINEITQEE ERIPFTAWGK CIRITLCASA VFFWILLIIA 
       460        470        480        490        500
SVIGIIVYRL SVFIVFSAKL PKNINGTDPI QKYLTPQTAT SITASIISFI 
       510        520        530        540        550
IIMILNTIYE KVAIMITNFE LPRTQTDYEN SLTMKMFLFQ FVNYYSSCFY 
       560        570        580        590        600
IAFFKGKFVG YPGDPVYWLG KYRNEECDPG GCLLELTTQL TIIMGGKAIW 
       610        620        630        640        650
NNIQEVLLPW IMNLIGRFHR VSGSEKITPR WEQDYHLQPM GKLGLFYEYL 
       660        670        680        690        700
EMIIQFGFVT LFVASFPLAP LLALVNNILE IRVDAWKLTT QFRRLVPEKA 
       710        720        730        740        750
QDIGAWQPIM QGIAILAVVT NAMIIAFTSD MIPRLVYYWS FSVPPYGDHT 
       760        770        780        790        800
SYTMEGYINN TLSIFKVADF KNKSKGNPYS DLGNHTTCRY RDFRYPPGHP 
       810        820        830        840        850
QEYKHNIYYW HVIAAKLAFI IVMEHVIYSV KFFISYAIPD VSKRTKSKIQ 
       860        870        880        890 
REKYLTQKLL HENHLKDMTK NMGVIAERMI EAVDNNLRPK SE         

        10         20         30         40         50
MKKMSRNVLL QMEEEEDDDD GDIVLENLGQ TIVPDLGSLE SQHDFRTPEF 
        60         70         80         90        100
EEFNGKPDSL FFNDGQRRID FVLVYEDESR KETNKKGTNE KQRRKRQAYE 
       110        120        130        140        150
SNLICHGLQL EATRSVLDDK LVFVKVHAPW EVLCTYAEIM HIKLPLKPND 
       160        170        180        190        200
LKNRSSAFGT LNWFTKVLSV DESIIKPEQE FFTAPFEKNR MNDFYIVDRD 
       210        220        230        240        250
AFFNPATRSR IVYFILSRVK YQVINNVSKF GINRLVNSGI YKAAFPLHDC 
       260        270        280        290        300
KFRRQSEDPS CPNERYLLYR EWAHPRSIYK KQPLDLIRKY YGEKIGIYFA 
       310        320        330        340        350
WLGYYTQMLL LAAVVGVACF LYGYLNQDNC TWSKEVCHPD IGGKIIMCPQ 
       360        370        380        390        400
CDRLCPFWKL NITCESSKKL CIFDSFGTLV FAVFMGVWVT LFLEFWKRRQ 
       410        420        430        440        450
AELEYEWDTV ELQQEEQARP EYEARCTHVV INEITQEEER IPFTAWGKCI 
       460        470        480        490        500
RITLCASAVF FWILLIIASV IGIIVYRLSV FIVFSAKLPK NINGTDPIQK 
       510        520        530        540        550
YLTPQTATSI TASIISFIII MILNTIYEKV AIMITNFELP RTQTDYENSL 
       560        570        580        590        600
TMKMFLFQFV NYYSSCFYIA FFKGKFVGYP GDPVYWLGKY RNEECDPGGC 
       610        620        630        640        650
LLELTTQLTI IMGGKAIWNN IQEVLLPWIM NLIGRFHRVS GSEKITPRWE 
       660        670        680        690        700
QDYHLQPMGK LGLFYEYLEM IIQFGFVTLF VASFPLAPLL ALVNNILEIR 
       710        720        730        740        750
VDAWKLTTQF RRLVPEKAQD IGAWQPIMQG IAILAVVTNA MIIAFTSDMI 
       760        770        780        790        800
PRLVYYWSFS VPPYGDHTSY TMEGYINNTL SIFKVADFKN KSKGNPYSDL 
       810        820        830        840        850
GNHTTCRYRD FRYPPGHPQE YKHNIYYWHV IAAKLAFIIV MEYLALLPRL 
       860        870        880        890        900
GHSGMILAHC NLRLPVDCCM CYRFVDEIRL LEQLTSDFID SLYYIFSISI 
       910        920 
ISIFFSVTFF FLLLSLGPTP CFSVSNFLS                        

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityⁱ

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

• 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. SIMILARITY comments
   Index of protein domains and families
4. Human chromosome 12
   Human chromosome 12: 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