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Database: UniProt
Entry: Q86TB3
LinkDB: Q86TB3
Original site: Q86TB3 
ID   ALPK2_HUMAN             Reviewed;        2170 AA.
AC   Q86TB3; Q6ZUX0; Q8NAT5; Q96L95;
DT   28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT   14-APR-2009, sequence version 3.
DT   12-AUG-2020, entry version 137.
DE   RecName: Full=Alpha-protein kinase 2 {ECO:0000305};
DE            EC=2.7.11.1 {ECO:0000305|PubMed:29888752};
DE   AltName: Full=Heart alpha-protein kinase {ECO:0000303|PubMed:10021370};
GN   Name=ALPK2; Synonyms=HAK;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLN-719; SER-810;
RP   THR-825; ILE-891; LYS-916; VAL-1057; PRO-1174; SER-1449; SER-1551 AND
RP   VAL-2157.
RC   TISSUE=Skeletal muscle;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA   Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA   Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16177791; DOI=10.1038/nature03983;
RA   Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA   Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA   Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA   Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA   Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA   Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA   Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA   Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA   Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT   "DNA sequence and analysis of human chromosome 18.";
RL   Nature 437:551-555(2005).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 552-1770, AND VARIANTS GLN-719;
RP   SER-810; THR-825; ILE-891; LYS-916; VAL-1057; PRO-1174; SER-1449 AND
RP   VAL-2157.
RC   TISSUE=Heart, and Teratocarcinoma;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 569-2170, AND VARIANTS GLN-719; SER-810;
RP   THR-825; ILE-891; LYS-916; VAL-1057; PRO-1174 AND SER-1449.
RX   PubMed=10021370; DOI=10.1016/s0960-9822(99)80006-2;
RA   Ryazanov A.G., Pavur K.S., Dorovkov M.V.;
RT   "Alpha-kinases: a new class of protein kinases with a novel catalytic
RT   domain.";
RL   Curr. Biol. 9:R43-R45(1999).
RN   [5]
RP   FUNCTION, CATALYTIC ACTIVITY, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX   PubMed=29888752; DOI=10.1016/j.isci.2018.03.010;
RA   Hofsteen P., Robitaille A.M., Strash N., Palpant N., Moon R.T., Pabon L.,
RA   Murry C.E.;
RT   "ALPK2 Promotes Cardiogenesis in Zebrafish and Human Pluripotent Stem
RT   Cells.";
RL   IScience 2:88-100(2018).
RN   [6]
RP   VARIANTS [LARGE SCALE ANALYSIS] LYS-942 AND THR-1476.
RX   PubMed=17344846; DOI=10.1038/nature05610;
RA   Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G.,
RA   Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S.,
RA   Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.,
RA   Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K.,
RA   Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D.,
RA   Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R.,
RA   Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A.,
RA   Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F.,
RA   Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F.,
RA   Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G.,
RA   Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R.,
RA   Futreal P.A., Stratton M.R.;
RT   "Patterns of somatic mutation in human cancer genomes.";
RL   Nature 446:153-158(2007).
RN   [7]
RP   SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT GLU-1853, AND VARIANTS
RP   THR-2; VAL-29; SER-136; THR-202; LEU-388; ILE-397; VAL-457; GLN-719;
RP   SER-810; THR-825; ASN-829; PRO-875; LEU-884; ILE-891; LYS-916; THR-969;
RP   THR-977; VAL-1057; PRO-1174; SER-1288; SER-1449; SER-1551; ARG-1579;
RP   GLU-1730; ASN-1745; TYR-1767; GLU-1853; CYS-1884; THR-1919; THR-1978 AND
RP   VAL-2157.
RX   PubMed=28668886; DOI=10.21873/anticanres.11765;
RA   Nishi K., Luo H., Nakabayashi K., Doi K., Ishikura S., Iwaihara Y.,
RA   Yoshida Y., Tanisawa K., Arai T., Mori S., Sawabe M., Muramatsu M.,
RA   Tanaka M., Sakata T., Shirasawa S., Tsunoda T.;
RT   "An Alpha-kinase 2 Gene Variant Disrupts Filamentous Actin Localization in
RT   the Surface Cells of Colorectal Cancer Spheroids.";
RL   Anticancer Res. 37:3855-3862(2017).
CC   -!- FUNCTION: Protein kinase that recognizes phosphorylation sites in which
CC       the surrounding peptides have an alpha-helical conformation
CC       (PubMed:10021370). Regulates cardiac development and cardiomyocyte
CC       differentiation by negatively regulating Wnt/beta-catenin signaling
CC       (PubMed:29888752). {ECO:0000269|PubMed:29888752,
CC       ECO:0000303|PubMed:10021370}.
CC   -!- CATALYTIC ACTIVITY:
CC       Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-
CC         [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-
CC         COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616,
CC         ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;
CC         Evidence={ECO:0000305|PubMed:29888752};
CC   -!- CATALYTIC ACTIVITY:
CC       Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-
CC         threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060,
CC         Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013,
CC         ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216;
CC         EC=2.7.11.1; Evidence={ECO:0000305};
CC   -!- SUBCELLULAR LOCATION: Basolateral cell membrane
CC       {ECO:0000269|PubMed:28668886}.
CC   -!- TISSUE SPECIFICITY: Expressed in developing cardiac tissue and
CC       cardiomyocytes (at protein level). {ECO:0000269|PubMed:29888752}.
CC   -!- DEVELOPMENTAL STAGE: Detected in cardiac progenitor cells with
CC       expression levels increasing as progenitor cells differentiate into
CC       cardiomyocytes. {ECO:0000269|PubMed:29888752}.
CC   -!- SIMILARITY: Belongs to the protein kinase superfamily. Alpha-type
CC       protein kinase family. ALPK subfamily. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAK95952.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC       Sequence=AAK95952.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
CC       Sequence=BAC03812.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAC03812.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
CC       Sequence=BX647796; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
CC       Sequence=CAD89922.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
DR   EMBL; AL832018; CAD89922.1; ALT_INIT; mRNA.
DR   EMBL; BX647796; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; BX647639; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; AK092133; BAC03812.1; ALT_SEQ; mRNA.
DR   EMBL; AY044450; AAK95952.1; ALT_SEQ; mRNA.
DR   CCDS; CCDS11966.2; -.
DR   RefSeq; NP_443179.3; NM_052947.3.
DR   BioGRID; 125447; 2.
DR   IntAct; Q86TB3; 3.
DR   MINT; Q86TB3; -.
DR   STRING; 9606.ENSP00000354991; -.
DR   iPTMnet; Q86TB3; -.
DR   PhosphoSitePlus; Q86TB3; -.
DR   BioMuta; ALPK2; -.
DR   DMDM; 226694196; -.
DR   MassIVE; Q86TB3; -.
DR   MaxQB; Q86TB3; -.
DR   PaxDb; Q86TB3; -.
DR   PeptideAtlas; Q86TB3; -.
DR   PRIDE; Q86TB3; -.
DR   ProteomicsDB; 69678; -.
DR   Antibodypedia; 22947; 90 antibodies.
DR   DNASU; 115701; -.
DR   Ensembl; ENST00000361673; ENSP00000354991; ENSG00000198796.
DR   GeneID; 115701; -.
DR   KEGG; hsa:115701; -.
DR   UCSC; uc002lhj.5; human.
DR   CTD; 115701; -.
DR   DisGeNET; 115701; -.
DR   EuPathDB; HostDB:ENSG00000198796.6; -.
DR   GeneCards; ALPK2; -.
DR   HGNC; HGNC:20565; ALPK2.
DR   HPA; ENSG00000198796; Tissue enhanced (heart muscle, skeletal muscle, tongue).
DR   neXtProt; NX_Q86TB3; -.
DR   OpenTargets; ENSG00000198796; -.
DR   PharmGKB; PA134916108; -.
DR   eggNOG; ENOG502QPP5; Eukaryota.
DR   GeneTree; ENSGT00940000160524; -.
DR   HOGENOM; CLU_002011_0_0_1; -.
DR   InParanoid; Q86TB3; -.
DR   KO; K08868; -.
DR   OMA; EDKHAGG; -.
DR   OrthoDB; 32441at2759; -.
DR   PhylomeDB; Q86TB3; -.
DR   TreeFam; TF332629; -.
DR   PathwayCommons; Q86TB3; -.
DR   BioGRID-ORCS; 115701; 3 hits in 883 CRISPR screens.
DR   ChiTaRS; ALPK2; human.
DR   GenomeRNAi; 115701; -.
DR   Pharos; Q86TB3; Tbio.
DR   PRO; PR:Q86TB3; -.
DR   Proteomes; UP000005640; Chromosome 18.
DR   RNAct; Q86TB3; protein.
DR   Bgee; ENSG00000198796; Expressed in left ventricle myocardium and 117 other tissues.
DR   Genevisible; Q86TB3; HS.
DR   GO; GO:0016323; C:basolateral plasma membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0005524; F:ATP binding; IEA:InterPro.
DR   GO; GO:0004674; F:protein serine/threonine kinase activity; IEA:UniProtKB-KW.
DR   GO; GO:0055013; P:cardiac muscle cell development; IMP:UniProtKB.
DR   GO; GO:1905223; P:epicardium morphogenesis; IMP:UniProtKB.
DR   GO; GO:0030010; P:establishment of cell polarity; IMP:UniProtKB.
DR   GO; GO:0003007; P:heart morphogenesis; IMP:UniProtKB.
DR   GO; GO:0003308; P:negative regulation of Wnt signaling pathway involved in heart development; IMP:UniProtKB.
DR   GO; GO:0042981; P:regulation of apoptotic process; IMP:UniProtKB.
DR   GO; GO:0010468; P:regulation of gene expression; IMP:UniProtKB.
DR   Gene3D; 2.60.40.10; -; 2.
DR   InterPro; IPR007110; Ig-like_dom.
DR   InterPro; IPR036179; Ig-like_dom_sf.
DR   InterPro; IPR013783; Ig-like_fold.
DR   InterPro; IPR013098; Ig_I-set.
DR   InterPro; IPR003599; Ig_sub.
DR   InterPro; IPR003598; Ig_sub2.
DR   InterPro; IPR011009; Kinase-like_dom_sf.
DR   InterPro; IPR004166; MHCK_EF2_kinase.
DR   Pfam; PF02816; Alpha_kinase; 1.
DR   Pfam; PF07679; I-set; 2.
DR   SMART; SM00811; Alpha_kinase; 1.
DR   SMART; SM00409; IG; 2.
DR   SMART; SM00408; IGc2; 2.
DR   SUPFAM; SSF48726; SSF48726; 2.
DR   SUPFAM; SSF56112; SSF56112; 1.
DR   PROSITE; PS51158; ALPHA_KINASE; 1.
DR   PROSITE; PS50835; IG_LIKE; 2.
PE   1: Evidence at protein level;
KW   Cell membrane; Disulfide bond; Immunoglobulin domain; Kinase; Membrane;
KW   Polymorphism; Reference proteome; Repeat; Serine/threonine-protein kinase;
KW   Transferase.
FT   CHAIN           1..2170
FT                   /note="Alpha-protein kinase 2"
FT                   /id="PRO_0000260030"
FT   DOMAIN          10..114
FT                   /note="Ig-like 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT   DOMAIN          1786..1874
FT                   /note="Ig-like 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT   DOMAIN          1901..2133
FT                   /note="Alpha-type protein kinase"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00501"
FT   COMPBIAS        1644..1649
FT                   /note="Poly-Ser"
FT                   /evidence="ECO:0000255"
FT   DISULFID        33..98
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT   DISULFID        1808..1858
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT   VARIANT         2
FT                   /note="K -> T (in dbSNP:rs6566987)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054914"
FT   VARIANT         29
FT                   /note="A -> V (in dbSNP:rs138405027)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_082163"
FT   VARIANT         136
FT                   /note="R -> S (in dbSNP:rs9944810)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054915"
FT   VARIANT         202
FT                   /note="A -> T (in dbSNP:rs115979836)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_082164"
FT   VARIANT         388
FT                   /note="S -> L (in dbSNP:rs147887741)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_082165"
FT   VARIANT         397
FT                   /note="T -> I (in dbSNP:rs79863383)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_082166"
FT   VARIANT         457
FT                   /note="A -> V (in dbSNP:rs199872766)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_082167"
FT   VARIANT         719
FT                   /note="H -> Q (in dbSNP:rs12103986)"
FT                   /evidence="ECO:0000269|PubMed:10021370,
FT                   ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005,
FT                   ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054916"
FT   VARIANT         810
FT                   /note="G -> S (in dbSNP:rs3809970)"
FT                   /evidence="ECO:0000269|PubMed:10021370,
FT                   ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005,
FT                   ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054917"
FT   VARIANT         825
FT                   /note="R -> T (in dbSNP:rs3809972)"
FT                   /evidence="ECO:0000269|PubMed:10021370,
FT                   ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005,
FT                   ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054918"
FT   VARIANT         829
FT                   /note="K -> N (in dbSNP:rs3809973)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054919"
FT   VARIANT         875
FT                   /note="T -> P (in dbSNP:rs34109891)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_082168"
FT   VARIANT         884
FT                   /note="S -> L (in dbSNP:rs3809974)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054920"
FT   VARIANT         891
FT                   /note="T -> I (in dbSNP:rs3826593)"
FT                   /evidence="ECO:0000269|PubMed:10021370,
FT                   ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005,
FT                   ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054921"
FT   VARIANT         916
FT                   /note="N -> K (in dbSNP:rs4940404)"
FT                   /evidence="ECO:0000269|PubMed:10021370,
FT                   ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005,
FT                   ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054922"
FT   VARIANT         942
FT                   /note="E -> K (in an ovarian undifferentiated carcinoma
FT                   sample; somatic mutation)"
FT                   /evidence="ECO:0000269|PubMed:17344846"
FT                   /id="VAR_045591"
FT   VARIANT         969
FT                   /note="A -> T (in dbSNP:rs371835741)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_082169"
FT   VARIANT         977
FT                   /note="S -> T (in dbSNP:rs3809975)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054923"
FT   VARIANT         1057
FT                   /note="L -> V (in dbSNP:rs3809976)"
FT                   /evidence="ECO:0000269|PubMed:10021370,
FT                   ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005,
FT                   ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054924"
FT   VARIANT         1063
FT                   /note="G -> V (in dbSNP:rs34347938)"
FT                   /id="VAR_062168"
FT   VARIANT         1134
FT                   /note="K -> N (in dbSNP:rs35791514)"
FT                   /id="VAR_054925"
FT   VARIANT         1174
FT                   /note="H -> P (in dbSNP:rs3809977)"
FT                   /evidence="ECO:0000269|PubMed:10021370,
FT                   ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005,
FT                   ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054926"
FT   VARIANT         1288
FT                   /note="L -> S (in dbSNP:rs35882005)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_082170"
FT   VARIANT         1296
FT                   /note="L -> V (in dbSNP:rs3809976)"
FT                   /id="VAR_045593"
FT   VARIANT         1449
FT                   /note="P -> S (in dbSNP:rs3809982)"
FT                   /evidence="ECO:0000269|PubMed:10021370,
FT                   ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005,
FT                   ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054927"
FT   VARIANT         1476
FT                   /note="K -> T (in a melanoma metastatic sample; somatic
FT                   mutation)"
FT                   /evidence="ECO:0000269|PubMed:17344846"
FT                   /id="VAR_045594"
FT   VARIANT         1551
FT                   /note="A -> S (in dbSNP:rs3809983)"
FT                   /evidence="ECO:0000269|PubMed:17974005,
FT                   ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054928"
FT   VARIANT         1579
FT                   /note="Q -> R (in dbSNP:rs33910491)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054929"
FT   VARIANT         1729
FT                   /note="K -> E (in dbSNP:rs34409558)"
FT                   /id="VAR_054930"
FT   VARIANT         1730
FT                   /note="K -> E (in dbSNP:rs17065127)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054931"
FT   VARIANT         1745
FT                   /note="K -> N (in dbSNP:rs56206581)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_082171"
FT   VARIANT         1767
FT                   /note="H -> Y (in dbSNP:rs7234999)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054932"
FT   VARIANT         1853
FT                   /note="Q -> E (rare variant found in East Asian patients;
FT                   decreases luminal apoptosis, cell aggregation and
FT                   basolateral membrane localization in colorectal cancer
FT                   cells; dbSNP:rs55674018)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_082172"
FT   VARIANT         1884
FT                   /note="R -> C (in dbSNP:rs33969768)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_057742"
FT   VARIANT         1919
FT                   /note="A -> T (in dbSNP:rs374271622)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_082173"
FT   VARIANT         1969
FT                   /note="E -> K (in dbSNP:rs1313881443)"
FT                   /id="VAR_045595"
FT   VARIANT         1978
FT                   /note="A -> T (in dbSNP:rs146618330)"
FT                   /evidence="ECO:0000269|PubMed:28668886"
FT                   /id="VAR_082174"
FT   VARIANT         2157
FT                   /note="I -> V (in dbSNP:rs7240666)"
FT                   /evidence="ECO:0000269|PubMed:14702039,
FT                   ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:28668886"
FT                   /id="VAR_054933"
FT   CONFLICT        550
FT                   /note="N -> S (in Ref. 1; BX647796)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        829
FT                   /note="K -> S (in Ref. 1; CAD89922)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        912
FT                   /note="A -> T (in Ref. 1; BX647796)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        959
FT                   /note="G -> E (in Ref. 4; BAC03812)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1067
FT                   /note="K -> E (in Ref. 1; CAD89922)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1165
FT                   /note="E -> G (in Ref. 1; CAD89922)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1217
FT                   /note="I -> T (in Ref. 4; BAC03812)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1402
FT                   /note="S -> P (in Ref. 1; BX647796)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1428
FT                   /note="Q -> R (in Ref. 4; BAC03812)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1443
FT                   /note="H -> R (in Ref. 1; BX647796)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1784
FT                   /note="R -> S (in Ref. 1; BX647639)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1814
FT                   /note="H -> R (in Ref. 1; BX647796)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1939
FT                   /note="M -> V (in Ref. 1; CAD89922)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2042
FT                   /note="I -> V (in Ref. 1; CAD89922)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2092
FT                   /note="G -> D (in Ref. 1; BX647796)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   2170 AA;  237013 MW;  5C257153F091B08E CRC64;
     MKDSEGPQRP PLCFLSTLLS QKVPEKSDAV LRCIISGQPK PEVTWYKNGQ AIDGSGIISN
     YEFFENQYIH VLHLSCCTKN DAAVYQISAK NSFGMICCSA SVEVECSSEN PQLSPNLEDD
     RDRGWKHETG THEEERANQI DEKEHPYKEE ESISPGTPRS ADSSPSKSNH SLSLQSLGNL
     DISVSSSENP LGVKGTRHTG EAYDPSNTEE IANGLLFLNS SHIYEKQDRC CHKTVHSMAS
     KFTDGDLNND GPHDEGLRSS QQNPKVQKYI SFSLPLSEAT AHIYPGDSAV ANKQPSPQLS
     SEDSDSDYEL CPEITLTYTE EFSDDDLEYL ECSDVMTDYS NAVWQRNLLG TEHVFLLESD
     DEEMEFGEHC LGGCEHFLSG MGCGSRVSGD AGPMVATAGF CGHHSQPQEV GVRSSRVSKH
     GPSSPQTGMT LILGPHQDGT SSVTEQGRYK LPTAPEAAEN DYPGIQGETR DSHQAREEFA
     SDNLLNMDES VRETEMKLLS GESENSGMSQ CWETAADKRV GGKDLWSKRG SRKSARVRQP
     GMKGNPKKPN ANLRESTTEG TLHLCSAKES AEPPLTQSDK RETSHTTAAA TGRSSHADAR
     ECAISTQAEQ EAKTLQTSTD SVSKEGNTNC KGEGMQVNTL FETSQVPDWS DPPQVQVQET
     VRETISCSQM PAFSEPAGEE SPFTGTTTIS FSNLGGVHKE NASLAQHSEV KPCTCGPQHE
     EKQDRDGNIP DNFREDLKYE QSISEANDET MSPGVFSRHL PKDARADFRE PVAVSVASPE
     PTDTALTLEN VCDEPRDREA VCAMECFEAG DQGTCFDTID SLVGRPVDKY SPQEICSVDT
     ELAEGQNKVS DLCSSNDKTL EVFFQTQVSE TSVSTCKSSK DGNSVMSPLF TSTFTLNISH
     TASEGATGEN LAKVENSTYP LASTVHAGQE QPSPSNSGGL DETQLLSSEN NPLVQFKEGG
     DKSPSPSAAD TTATPASYSS IVSFPWEKPT TLTANNECFQ ATRETEDTST VTIATEVHPA
     KYLAVSIPED KHAGGTEERF PRASHEKVSQ FPSQVQLDHI LSGATIKSTK ELLCRAPSVP
     GVPHHVLQLP EGEGFCSNSP LQVDNLSGDK SQTVDRADFR SYEENFQERG SETKQGVQQQ
     SLSQQGSLSA PDFQQSLPTT SAAQEERNLV PTAHSPASSR EGAGQRSGWG TRVSVVAETA
     GEEDSQALSN VPSLSDILLE ESKEYRPGNW EAGNKLKIIT LEASASEIWP PRQLTNSESK
     ASDGGLIIPD KVWAVPDSLK ADAVVPELAP SEIAALAHSP EDAESALADS RESHKGEEPT
     ISVHWRSLSS RGFSQPRLLE SSVDPVDEKE LSVTDSLSAA SETGGKENVN NVSQDQEEKQ
     LKMDHTAFFK KFLTCPKILE SSVDPIDEIS VIEYTRAGKP EPSETTPQGA REGGQSNDGN
     MGHEAEIQPA ILQVPCLQGT ILSENRISRS QEGSMKQEAE QIQPEEAKTA IWQVLQPSEG
     GERIPSGCSI GQIQESSDGS LGEAEQSKKD KAELISPTSP LSSCLPIMTH ASLGVDTHNS
     TGQIHDVPEN DIVEPRKRQY VFPVSQKRGT IENERGKPLP SSPDLTRFPC TSSPEGNVTD
     FLISHKMEEP KIEVLQIGET KPPSSSSSSA KTLAFISGER ELEKAPKLLQ DPCQKGTLGC
     AKKSREREKS LEARAGKSPG TLTAVTGSEE VKRKPEAPGS GHLAEGVKKK ILSRVAALRL
     KLEEKENIRK NSAFLKKMPK LETSLSHTEE KQDPKKPSCK REGRAPVLLK KIQAEMFPEH
     SGNVKLSCQF AEIHEDSTIC WTKDSKSIAQ VQRSAGDNST VSFAIVQASP KDQGLYYCCI
     KNSYGKVTAE FNLTAEVLKQ LSSRQDTKGC EEIEFSQLIF KEDFLHDSYF GGRLRGQIAT
     EELHFGEGVH RKAFRSTVMH GLMPVFKPGH ACVLKVHNAI AYGTRNNDEL IQRNYKLAAQ
     ECYVQNTARY YAKIYAAEAQ PLEGFGEVPE IIPIFLIHRP ENNIPYATVE EELIGEFVKY
     SIRDGKEINF LRRESEAGQK CCTFQHWVYQ KTSGCLLVTD MQGVGMKLTD VGIATLAKGY
     KGFKGNCSMT FIDQFKALHQ CNKYCKMLGL KSLQNNNQKQ KQPSIGKSKV QTNSMTIKKA
     GPETPGEKKT
//
DBGET integrated database retrieval system