DMKN_HUMAN
ID DMKN_HUMAN Reviewed; 476 AA.
AC Q6E0U4; A3EZ79; A3EZ80; A3EZ81; A3EZ82; A3EZ83; C9J4P6; C9J5N8; C9JAL3;
AC Q32W58; Q32W62; Q32W63; Q32W64; Q32W65; Q32W66; Q32W67; Q6E0U5; Q6UXC7;
AC Q96EW8; Q9BSY6;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 02-MAR-2010, sequence version 3.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Dermokine;
DE AltName: Full=Epidermis-specific secreted protein SK30/SK89;
DE Flags: Precursor;
GN Name=DMKN; ORFNames=UNQ729/PRO1411;
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 [MRNA] (ISOFORM 1), PARTIAL NUCLEOTIDE SEQUENCE [MRNA]
RP (ISOFORM 15), PROTEIN SEQUENCE OF 22-26, SUBCELLULAR LOCATION, AND VARIANTS
RP ALA-91 AND ALA-427.
RX PubMed=15234001; DOI=10.1016/j.ygeno.2004.03.010;
RA Matsui T., Hayashi-Kisumi F., Kinoshita Y., Katahira S., Morita K.,
RA Miyachi Y., Ono Y., Imai T., Tanigawa Y., Komiya T., Tsukita S.;
RT "Identification of novel keratinocyte-secreted peptides dermokine-alpha/-
RT beta and a new stratified epithelium-secreted protein gene complex on human
RT chromosome 19q13.1.";
RL Genomics 84:384-397(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 3; 5; 9; 10; 11; 12; 13 AND 14),
RP PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 15), TISSUE SPECIFICITY, AND
RP VARIANTS ALA-91 AND ALA-427.
RC TISSUE=Epidermis;
RX PubMed=16374476; DOI=10.1038/sj.jid.5700033;
RA Toulza E., Galliano M.F., Jonca N., Gallinaro H., Mechin M.C.,
RA Ishida-Yamamoto A., Serre G., Guerrin M.;
RT "The human dermokine gene: description of novel isoforms with different
RT tissue-specific expression and subcellular location.";
RL J. Invest. Dermatol. 126:503-506(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4; 7 AND 8), TISSUE SPECIFICITY,
RP GLYCOSYLATION, SUBUNIT, AND VARIANTS ALA-91; SER-280 AND ALA-427.
RX PubMed=17380110; DOI=10.1038/sj.jid.5700779;
RA Naso M.F., Liang B., Huang C.C., Song X.-Y., Shahied-Arruda L.,
RA Belkowski S.M., D'Andrea M.R., Polkovitch D.A., Lawrence D.R.,
RA Griswold D.E., Sweet R.W., Amegadzie B.Y.;
RT "Dermokine: an extensively differentially spliced gene expressed in
RT epithelial cells.";
RL J. Invest. Dermatol. 127:1622-1631(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6), AND VARIANTS ALA-91 AND
RP SER-139.
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 14), AND VARIANTS
RP ALA-91 AND ALA-427.
RC TISSUE=Skin, and Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP VARIANT [LARGE SCALE ANALYSIS] ASP-13.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: May act as a soluble regulator of keratinocyte
CC differentiation. {ECO:0000305}.
CC -!- SUBUNIT: Homooligomer. Seems to be able to homodimerize and
CC homotrimerize. {ECO:0000269|PubMed:17380110}.
CC -!- INTERACTION:
CC Q6E0U4; P46379-2: BAG6; NbExp=3; IntAct=EBI-7943171, EBI-10988864;
CC Q6E0U4; Q05329: GAD2; NbExp=3; IntAct=EBI-7943171, EBI-9304251;
CC Q6E0U4; P11021: HSPA5; NbExp=3; IntAct=EBI-7943171, EBI-354921;
CC Q6E0U4; O43765: SGTA; NbExp=3; IntAct=EBI-7943171, EBI-347996;
CC Q6E0U4; Q96EQ0: SGTB; NbExp=3; IntAct=EBI-7943171, EBI-744081;
CC Q6E0U4; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-7943171, EBI-741480;
CC Q6E0U4; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-7943171, EBI-947187;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15234001}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=16;
CC Name=1; Synonyms=Dermokine beta;
CC IsoId=Q6E0U4-1; Sequence=Displayed;
CC Name=2; Synonyms=Dermokine beta-2;
CC IsoId=Q6E0U4-2; Sequence=VSP_033093;
CC Name=3; Synonyms=Dermokine-gamma 1, Dermokine gamma-2;
CC IsoId=Q6E0U4-3; Sequence=VSP_033103, VSP_033104;
CC Name=4; Synonyms=Dermokine beta-1;
CC IsoId=Q6E0U4-4; Sequence=VSP_033094, VSP_033100, VSP_033106;
CC Name=5; Synonyms=Dermokine gamma-2;
CC IsoId=Q6E0U4-5; Sequence=VSP_033101, VSP_033103, VSP_033104;
CC Name=6;
CC IsoId=Q6E0U4-6; Sequence=VSP_033102;
CC Name=7; Synonyms=Dermokine gamma-1;
CC IsoId=Q6E0U4-7; Sequence=VSP_033098, VSP_033103, VSP_033104;
CC Name=8; Synonyms=Dermokine delta;
CC IsoId=Q6E0U4-8; Sequence=VSP_033092, VSP_033095;
CC Name=9; Synonyms=Dermokine-delta-4;
CC IsoId=Q6E0U4-9; Sequence=VSP_033091, VSP_033096;
CC Name=10; Synonyms=Dermokine-delta-1;
CC IsoId=Q6E0U4-10; Sequence=VSP_033090, VSP_033097;
CC Name=11; Synonyms=Dermokine-delta-3;
CC IsoId=Q6E0U4-11; Sequence=VSP_033089, VSP_033099;
CC Name=12; Synonyms=Dermokine-delta-2;
CC IsoId=Q6E0U4-12; Sequence=VSP_033089, VSP_033099, VSP_033106;
CC Name=13; Synonyms=Dermokine-delta-6;
CC IsoId=Q6E0U4-13; Sequence=VSP_033088;
CC Name=14; Synonyms=Dermokine-delta-5;
CC IsoId=Q6E0U4-14; Sequence=VSP_033088, VSP_033106;
CC Name=15; Synonyms=Dermokine-alpha;
CC IsoId=Q6E0U4-15; Sequence=VSP_033087, VSP_033105;
CC Name=16;
CC IsoId=Q6E0U4-16; Sequence=VSP_033094, VSP_047249;
CC -!- TISSUE SPECIFICITY: Expressed in epidermis; in the spinous and granular
CC layers and in placenta. Also found in the epithelia of the small
CC intestine, macrophages of the lung and endothelial cells of the lung.
CC Isoform 15 is expressed in epidermis and placenta. Isoform 1 is
CC expressed in epidermis. {ECO:0000269|PubMed:16374476,
CC ECO:0000269|PubMed:17380110}.
CC -!- PTM: O-glycosylated. {ECO:0000269|PubMed:17380110}.
CC -!- SIMILARITY: Belongs to the dermokine family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAX48757.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AY622964; AAT68268.1; -; mRNA.
DR EMBL; AY622965; AAT68269.1; -; mRNA.
DR EMBL; AY789695; AAX48745.1; -; mRNA.
DR EMBL; AY789696; AAX48746.1; -; mRNA.
DR EMBL; AY789697; AAX48747.1; -; mRNA.
DR EMBL; AY789698; AAX48748.1; -; mRNA.
DR EMBL; AY789699; AAX48749.1; -; mRNA.
DR EMBL; AY789700; AAX48750.1; -; mRNA.
DR EMBL; AY789701; AAX48751.1; -; mRNA.
DR EMBL; AY789702; AAX48752.1; -; mRNA.
DR EMBL; AY789703; AAX48753.1; -; mRNA.
DR EMBL; AY789704; AAX48754.1; -; mRNA.
DR EMBL; AY789705; AAX48755.1; -; mRNA.
DR EMBL; AY789706; AAX48756.1; -; mRNA.
DR EMBL; AY789707; AAX48757.1; ALT_INIT; mRNA.
DR EMBL; EF158319; ABN11271.1; -; mRNA.
DR EMBL; EF158320; ABN11272.1; -; mRNA.
DR EMBL; EF158321; ABN11273.1; -; mRNA.
DR EMBL; EF158322; ABN11274.1; -; mRNA.
DR EMBL; EF158323; ABN11275.1; -; mRNA.
DR EMBL; AY358412; AAQ88778.1; -; mRNA.
DR EMBL; AC138125; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AD001502; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC004493; AAH04493.2; -; mRNA.
DR EMBL; BC011886; AAH11886.1; -; mRNA.
DR EMBL; BC035311; AAH35311.1; -; mRNA.
DR CCDS; CCDS12463.1; -. [Q6E0U4-1]
DR CCDS; CCDS42549.1; -. [Q6E0U4-15]
DR CCDS; CCDS46051.1; -. [Q6E0U4-8]
DR CCDS; CCDS46052.1; -. [Q6E0U4-3]
DR CCDS; CCDS46053.1; -. [Q6E0U4-5]
DR CCDS; CCDS46054.2; -. [Q6E0U4-16]
DR CCDS; CCDS54250.1; -. [Q6E0U4-4]
DR CCDS; CCDS54251.1; -. [Q6E0U4-7]
DR CCDS; CCDS54252.1; -. [Q6E0U4-6]
DR CCDS; CCDS86745.1; -. [Q6E0U4-13]
DR RefSeq; NP_001119528.2; NM_001126056.2. [Q6E0U4-16]
DR RefSeq; NP_001119529.2; NM_001126057.2. [Q6E0U4-5]
DR RefSeq; NP_001119530.2; NM_001126058.2. [Q6E0U4-3]
DR RefSeq; NP_001119531.1; NM_001126059.2. [Q6E0U4-8]
DR RefSeq; NP_001177276.1; NM_001190347.1. [Q6E0U4-4]
DR RefSeq; NP_001177277.1; NM_001190348.1. [Q6E0U4-6]
DR RefSeq; NP_001177278.1; NM_001190349.1. [Q6E0U4-7]
DR RefSeq; NP_001295309.1; NM_001308380.1.
DR RefSeq; NP_201574.3; NM_033317.4. [Q6E0U4-1]
DR RefSeq; XP_006723556.1; XM_006723493.2. [Q6E0U4-10]
DR RefSeq; XP_006723557.1; XM_006723494.2. [Q6E0U4-12]
DR RefSeq; XP_016882966.1; XM_017027477.1.
DR PDB; 4F20; X-ray; 2.50 A; Q=251-262.
DR PDBsum; 4F20; -.
DR AlphaFoldDB; Q6E0U4; -.
DR SMR; Q6E0U4; -.
DR BioGRID; 125000; 27.
DR IntAct; Q6E0U4; 13.
DR MINT; Q6E0U4; -.
DR STRING; 9606.ENSP00000342012; -.
DR iPTMnet; Q6E0U4; -.
DR PhosphoSitePlus; Q6E0U4; -.
DR BioMuta; DMKN; -.
DR DMDM; 290457677; -.
DR EPD; Q6E0U4; -.
DR MassIVE; Q6E0U4; -.
DR MaxQB; Q6E0U4; -.
DR PaxDb; Q6E0U4; -.
DR PeptideAtlas; Q6E0U4; -.
DR PRIDE; Q6E0U4; -.
DR ProteomicsDB; 66258; -. [Q6E0U4-1]
DR ProteomicsDB; 66259; -. [Q6E0U4-10]
DR ProteomicsDB; 66260; -. [Q6E0U4-11]
DR ProteomicsDB; 66261; -. [Q6E0U4-12]
DR ProteomicsDB; 66262; -. [Q6E0U4-13]
DR ProteomicsDB; 66263; -. [Q6E0U4-14]
DR ProteomicsDB; 66265; -. [Q6E0U4-2]
DR ProteomicsDB; 66266; -. [Q6E0U4-3]
DR ProteomicsDB; 66267; -. [Q6E0U4-4]
DR ProteomicsDB; 66268; -. [Q6E0U4-5]
DR ProteomicsDB; 66269; -. [Q6E0U4-6]
DR ProteomicsDB; 66270; -. [Q6E0U4-7]
DR ProteomicsDB; 66271; -. [Q6E0U4-8]
DR ProteomicsDB; 66272; -. [Q6E0U4-9]
DR ProteomicsDB; 8509; -.
DR Antibodypedia; 29370; 110 antibodies from 20 providers.
DR DNASU; 93099; -.
DR Ensembl; ENST00000339686.8; ENSP00000342012.3; ENSG00000161249.21. [Q6E0U4-1]
DR Ensembl; ENST00000408915.6; ENSP00000386225.2; ENSG00000161249.21. [Q6E0U4-15]
DR Ensembl; ENST00000414866.6; ENSP00000392222.2; ENSG00000161249.21. [Q6E0U4-8]
DR Ensembl; ENST00000418261.5; ENSP00000414743.1; ENSG00000161249.21. [Q6E0U4-3]
DR Ensembl; ENST00000419602.5; ENSP00000391036.1; ENSG00000161249.21. [Q6E0U4-16]
DR Ensembl; ENST00000424570.6; ENSP00000388404.2; ENSG00000161249.21. [Q6E0U4-5]
DR Ensembl; ENST00000429837.5; ENSP00000405503.1; ENSG00000161249.21. [Q6E0U4-4]
DR Ensembl; ENST00000447113.6; ENSP00000394908.2; ENSG00000161249.21. [Q6E0U4-6]
DR Ensembl; ENST00000451297.6; ENSP00000409513.2; ENSG00000161249.21. [Q6E0U4-7]
DR Ensembl; ENST00000472252.6; ENSP00000473341.2; ENSG00000161249.21. [Q6E0U4-13]
DR Ensembl; ENST00000492341.6; ENSP00000474419.1; ENSG00000161249.21. [Q6E0U4-13]
DR GeneID; 93099; -.
DR KEGG; hsa:93099; -.
DR MANE-Select; ENST00000339686.8; ENSP00000342012.3; NM_033317.5; NP_201574.4.
DR UCSC; uc002nzi.5; human. [Q6E0U4-1]
DR CTD; 93099; -.
DR DisGeNET; 93099; -.
DR GeneCards; DMKN; -.
DR HGNC; HGNC:25063; DMKN.
DR HPA; ENSG00000161249; Tissue enriched (skin).
DR neXtProt; NX_Q6E0U4; -.
DR OpenTargets; ENSG00000161249; -.
DR PharmGKB; PA145149020; -.
DR VEuPathDB; HostDB:ENSG00000161249; -.
DR eggNOG; ENOG502T1EG; Eukaryota.
DR GeneTree; ENSGT00570000079107; -.
DR HOGENOM; CLU_045546_1_0_1; -.
DR InParanoid; Q6E0U4; -.
DR OMA; WQGMPGS; -.
DR OrthoDB; 917254at2759; -.
DR PhylomeDB; Q6E0U4; -.
DR TreeFam; TF338112; -.
DR PathwayCommons; Q6E0U4; -.
DR SignaLink; Q6E0U4; -.
DR BioGRID-ORCS; 93099; 29 hits in 1074 CRISPR screens.
DR ChiTaRS; DMKN; human.
DR GenomeRNAi; 93099; -.
DR Pharos; Q6E0U4; Tbio.
DR PRO; PR:Q6E0U4; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q6E0U4; protein.
DR Bgee; ENSG00000161249; Expressed in upper arm skin and 134 other tissues.
DR ExpressionAtlas; Q6E0U4; baseline and differential.
DR Genevisible; Q6E0U4; HS.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:1903575; P:cornified envelope assembly; IBA:GO_Central.
DR InterPro; IPR033541; Dermokine.
DR PANTHER; PTHR36881; PTHR36881; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Direct protein sequencing;
KW Glycoprotein; Reference proteome; Secreted; Signal.
FT SIGNAL 1..21
FT /evidence="ECO:0000269|PubMed:15234001"
FT CHAIN 22..476
FT /note="Dermokine"
FT /id="PRO_0000330764"
FT REGION 153..351
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 200..320
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..388
FT /note="Missing (in isoform 15)"
FT /evidence="ECO:0000305"
FT /id="VSP_033087"
FT VAR_SEQ 1..353
FT /note="Missing (in isoform 13 and isoform 14)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16374476"
FT /id="VSP_033088"
FT VAR_SEQ 1..344
FT /note="Missing (in isoform 11 and isoform 12)"
FT /evidence="ECO:0000303|PubMed:16374476"
FT /id="VSP_033089"
FT VAR_SEQ 1..324
FT /note="Missing (in isoform 10)"
FT /evidence="ECO:0000303|PubMed:16374476"
FT /id="VSP_033090"
FT VAR_SEQ 1..306
FT /note="Missing (in isoform 9)"
FT /evidence="ECO:0000303|PubMed:16374476"
FT /id="VSP_033091"
FT VAR_SEQ 1..287
FT /note="Missing (in isoform 8)"
FT /evidence="ECO:0000303|PubMed:17380110"
FT /id="VSP_033092"
FT VAR_SEQ 247..346
FT /note="GSGSQSGSSGSGSNGDNNNGSSSGGSSSGSSSGGSSGGSSGGSSGNSGGSRG
FT DSGSESSWGSSTGSSSGNHGGSGGGNGHKPGCEKPGNEARGSGESGIQ -> SSTGSSS
FT GNHGGSGGGNGHKPGCEKPGNEARGSGESGIQGFRGPGSFPXNMREISKEGNRLLGGSG
FT DNYRGQGSSWGSGGGDAVGGVNTV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17380110"
FT /id="VSP_033093"
FT VAR_SEQ 247..307
FT /note="Missing (in isoform 4 and isoform 16)"
FT /evidence="ECO:0000303|PubMed:17380110"
FT /id="VSP_033094"
FT VAR_SEQ 288..306
FT /note="GSSGNSGGSRGDSGSESSW -> MLGITSCSDQQAKEGEGLE (in
FT isoform 8)"
FT /evidence="ECO:0000303|PubMed:17380110"
FT /id="VSP_033095"
FT VAR_SEQ 307..346
FT /note="GSSTGSSSGNHGGSGGGNGHKPGCEKPGNEARGSGESGIQ -> MSPPDQGV
FT VESRLWRQMLHKGQGSSWGSGGGDAVGGVNTV (in isoform 9)"
FT /evidence="ECO:0000303|PubMed:16374476"
FT /id="VSP_033096"
FT VAR_SEQ 325..346
FT /note="GHKPGCEKPGNEARGSGESGIQ -> MRGQGSSWGSGGGDAVGGVNTV (in
FT isoform 10)"
FT /evidence="ECO:0000303|PubMed:16374476"
FT /id="VSP_033097"
FT VAR_SEQ 330..346
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:17380110"
FT /id="VSP_033098"
FT VAR_SEQ 345..346
FT /note="IQ -> MR (in isoform 11 and isoform 12)"
FT /evidence="ECO:0000303|PubMed:16374476"
FT /id="VSP_033099"
FT VAR_SEQ 346
FT /note="Q -> QGFRGQGVSSNMREISKEGNRLLGGSGDNYRGQGSSWGSGGGDAVGG
FT VNTV (in isoform 16)"
FT /evidence="ECO:0000305"
FT /id="VSP_047249"
FT VAR_SEQ 346
FT /note="Q -> QGQGSSWGSGGGDAVGGVNTV (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:17380110"
FT /id="VSP_033100"
FT VAR_SEQ 346
FT /note="Q -> QGFRGQGVSSNMR (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:16374476"
FT /id="VSP_033101"
FT VAR_SEQ 347..476
FT /note="NSETSPGMFNFDTFWKNFKSKLGFINWDAINKNQVPPPSTRALLYFSRLWED
FT FKQNTPFLNWKAIIEGADASSLQKRAGRDDQNYNYNQHAYPTAYGGKYSVKTPAKGGVS
FT PSSSASRVQPGLLQWVKFW -> GFRGQGVSSNMREISKEGNRLLGGSGDNYRGQGSSW
FT GSGGGDAVGGVNTVNSETSPGMFNFDTFWKNFKSKLGFINWDAINKDQRSSRIP (in
FT isoform 6)"
FT /evidence="ECO:0000303|PubMed:12975309"
FT /id="VSP_033102"
FT VAR_SEQ 379..386
FT /note="NQVPPPST -> DQRSSRIP (in isoform 3, isoform 5 and
FT isoform 7)"
FT /evidence="ECO:0000303|PubMed:16374476,
FT ECO:0000303|PubMed:17380110"
FT /id="VSP_033103"
FT VAR_SEQ 387..476
FT /note="Missing (in isoform 3, isoform 5 and isoform 7)"
FT /evidence="ECO:0000303|PubMed:16374476,
FT ECO:0000303|PubMed:17380110"
FT /id="VSP_033104"
FT VAR_SEQ 389..413
FT /note="LLYFSRLWEDFKQNTPFLNWKAIIE -> MNMKPATASALLLLLLGLAWTQG
FT SHGW (in isoform 15)"
FT /evidence="ECO:0000305"
FT /id="VSP_033105"
FT VAR_SEQ 429
FT /note="Q -> QPGAGWQEVAAVTSK (in isoform 4, isoform 12 and
FT isoform 14)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16374476, ECO:0000303|PubMed:17380110"
FT /id="VSP_033106"
FT VARIANT 13
FT /note="A -> D (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_042720"
FT VARIANT 69
FT /note="E -> D (in dbSNP:rs12460932)"
FT /id="VAR_056865"
FT VARIANT 91
FT /note="V -> A (in dbSNP:rs4806163)"
FT /evidence="ECO:0000269|PubMed:12975309,
FT ECO:0000269|PubMed:15234001, ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:16374476, ECO:0000269|PubMed:17380110"
FT /id="VAR_059652"
FT VARIANT 139
FT /note="N -> S (in dbSNP:rs7247001)"
FT /evidence="ECO:0000269|PubMed:12975309"
FT /id="VAR_056866"
FT VARIANT 280
FT /note="G -> S (in dbSNP:rs11667007)"
FT /evidence="ECO:0000269|PubMed:17380110"
FT /id="VAR_059653"
FT VARIANT 415
FT /note="A -> S (in dbSNP:rs2293696)"
FT /id="VAR_042721"
FT VARIANT 427
FT /note="D -> A (in dbSNP:rs909072)"
FT /evidence="ECO:0000269|PubMed:15234001,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16374476,
FT ECO:0000269|PubMed:17380110"
FT /id="VAR_047337"
FT CONFLICT 111
FT /note="H -> R (in Ref. 3; ABN11271/ABN11272)"
FT /evidence="ECO:0000305"
FT CONFLICT 198
FT /note="N -> D (in Ref. 3; ABN11273)"
FT /evidence="ECO:0000305"
FT CONFLICT 214..215
FT /note="QP -> PA (in Ref. 3; ABN11273)"
FT /evidence="ECO:0000305"
FT CONFLICT 271
FT /note="Missing (in Ref. 3; ABN11273/ABN11274)"
FT /evidence="ECO:0000305"
FT CONFLICT 279
FT /note="G -> GSSSG (in Ref. 4; AAQ88778)"
FT /evidence="ECO:0000305"
FT CONFLICT 378
FT /note="K -> M (in Ref. 3; ABN11272)"
FT /evidence="ECO:0000305"
FT CONFLICT 419
FT /note="S -> L (in Ref. 3; ABN11272)"
FT /evidence="ECO:0000305"
FT CONFLICT 450
FT /note="T -> S (in Ref. 3; ABN11272)"
FT /evidence="ECO:0000305"
FT STRAND 254..259
FT /evidence="ECO:0007829|PDB:4F20"
SQ SEQUENCE 476 AA; 47082 MW; C412EC42221BEEC8 CRC64;
MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQNSET SPGMFNFDTF
WKNFKSKLGF INWDAINKNQ VPPPSTRALL YFSRLWEDFK QNTPFLNWKA IIEGADASSL
QKRAGRDDQN YNYNQHAYPT AYGGKYSVKT PAKGGVSPSS SASRVQPGLL QWVKFW