EDN3_HUMAN
ID EDN3_HUMAN Reviewed; 238 AA.
AC P14138; E1P5I5; Q03229; Q7Z6D2; Q9UGT7;
DT 01-JAN-1990, integrated into UniProtKB/Swiss-Prot.
DT 01-JAN-1990, sequence version 1.
DT 03-AUG-2022, entry version 213.
DE RecName: Full=Endothelin-3;
DE Short=ET-3;
DE AltName: Full=Preproendothelin-3;
DE Short=PPET3;
DE Flags: Precursor;
GN Name=EDN3;
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].
RX PubMed=2509452; DOI=10.1016/s0021-9258(19)84690-2;
RA Bloch K.D., Eddy R.L., Shows T.B., Quertermous T.;
RT "cDNA cloning and chromosomal assignment of the gene encoding endothelin
RT 3.";
RL J. Biol. Chem. 264:18156-18161(1989).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
RC TISSUE=Placenta;
RX PubMed=2178974; DOI=10.1016/0014-5793(90)80583-5;
RA Onda H., Ohkubo S., Ogi K., Kosaka T., Kimura C., Matsumoto H., Suzuki N.,
RA Fujino M.;
RT "One of the endothelin gene family, endothelin 3 gene, is expressed in the
RT placenta.";
RL FEBS Lett. 261:327-330(1990).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT THR-17.
RG NIEHS SNPs program;
RL Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS LONG AND 3).
RC TISSUE=Lung, and Muscle;
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 [8]
RP PARTIAL PROTEIN SEQUENCE, CLEAVAGE BY KELL, AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
RX PubMed=10438732;
RA Lee S., Lin M., Mele A., Cao Y., Farmar J., Russo D., Redman C.;
RT "Proteolytic processing of big endothelin-3 by the kell blood group
RT protein.";
RL Blood 94:1440-1450(1999).
RN [9]
RP TISSUE SPECIFICITY.
RX PubMed=9284755; DOI=10.1210/jcem.82.9.4209;
RA Bourgeois C., Robert B., Rebourcet R., Mondon F., Mignot T.-M.,
RA Duc-Goiran P., Ferre F.;
RT "Endothelin-1 and ETA receptor expression in vascular smooth muscle cells
RT from human placenta: a new ETA receptor messenger ribonucleic acid is
RT generated by alternative splicing of exon 3.";
RL J. Clin. Endocrinol. Metab. 82:3116-3123(1997).
RN [10]
RP STRUCTURE BY NMR OF ET-3.
RX PubMed=1610811; DOI=10.1021/bi00139a030;
RA Mills R.G., O'Donoghue S.I., Smith R., King G.F.;
RT "Solution structure of endothelin-3 determined using NMR spectroscopy.";
RL Biochemistry 31:5640-5645(1992).
RN [11]
RP REVIEW ON VARIANTS.
RX PubMed=9359036;
RA Hofstra R.M.W., Osinga J., Buys C.H.C.M.;
RT "Mutations in Hirschsprung disease: when does a mutation contribute to the
RT phenotype.";
RL Eur. J. Hum. Genet. 5:180-185(1997).
RN [12]
RP VARIANT WS4B PHE-159.
RX PubMed=8630503; DOI=10.1038/ng0496-445;
RA Hofstra R.M.W., Tan-Sindhunata G., Wu Y., Kamsteeg E.-J., Stulp R.P.,
RA van Ravenswaaij-Arts C., Majoor-Krakauer D., Angrist M., Chakravarti A.,
RA Meijers C., Buys C.H.C.M.;
RT "A homozygous mutation in the endothelin-3 gene associated with a combined
RT Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg
RT syndrome).";
RL Nat. Genet. 12:445-447(1996).
RN [13]
RP VARIANT HSCR4 THR-224, AND VARIANT THR-17.
RX PubMed=9359047;
RA Bidaud C., Salomon R., Van Camp G., Pelet A., Attie T., Eng C.,
RA Bonduelle M., Amiel J., Nihoul-Fekete C., Willems P.J., Munnich A.,
RA Lyonnet S.;
RT "Endothelin-3 gene mutations in isolated and syndromic Hirschsprung
RT disease.";
RL Eur. J. Hum. Genet. 5:247-251(1997).
RN [14]
RP INVOLVEMENT IN WS4B.
RX PubMed=11303518; DOI=10.1136/jmg.38.3.205;
RA Pingault V., Bondurand N., Lemort N., Sancandi M., Ceccherini I.,
RA Hugot J.P., Jouk P.S., Goossens M.;
RT "A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease:
RT is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy
RT phenotypes?";
RL J. Med. Genet. 38:205-209(2001).
RN [15]
RP VARIANT WS4B CYS-127.
RX PubMed=12189494; DOI=10.1007/s00439-002-0765-8;
RA Pingault V., Girard M., Bondurand N., Dorkins H., Van Maldergem L.,
RA Mowat D., Shimotake T., Verma I., Baumann C., Goossens M.;
RT "SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex
RT physiopathological mechanism.";
RL Hum. Genet. 111:198-206(2002).
RN [16]
RP VARIANT THR-17.
RX PubMed=27535533; DOI=10.1038/nature19057;
RG Exome Aggregation Consortium;
RA Lek M., Karczewski K.J., Minikel E.V., Samocha K.E., Banks E., Fennell T.,
RA O'Donnell-Luria A.H., Ware J.S., Hill A.J., Cummings B.B., Tukiainen T.,
RA Birnbaum D.P., Kosmicki J.A., Duncan L.E., Estrada K., Zhao F., Zou J.,
RA Pierce-Hoffman E., Berghout J., Cooper D.N., Deflaux N., DePristo M.,
RA Do R., Flannick J., Fromer M., Gauthier L., Goldstein J., Gupta N.,
RA Howrigan D., Kiezun A., Kurki M.I., Moonshine A.L., Natarajan P.,
RA Orozco L., Peloso G.M., Poplin R., Rivas M.A., Ruano-Rubio V., Rose S.A.,
RA Ruderfer D.M., Shakir K., Stenson P.D., Stevens C., Thomas B.P., Tiao G.,
RA Tusie-Luna M.T., Weisburd B., Won H.H., Yu D., Altshuler D.M.,
RA Ardissino D., Boehnke M., Danesh J., Donnelly S., Elosua R., Florez J.C.,
RA Gabriel S.B., Getz G., Glatt S.J., Hultman C.M., Kathiresan S., Laakso M.,
RA McCarroll S., McCarthy M.I., McGovern D., McPherson R., Neale B.M.,
RA Palotie A., Purcell S.M., Saleheen D., Scharf J.M., Sklar P.,
RA Sullivan P.F., Tuomilehto J., Tsuang M.T., Watkins H.C., Wilson J.G.,
RA Daly M.J., MacArthur D.G.;
RT "Analysis of protein-coding genetic variation in 60,706 humans.";
RL Nature 536:285-291(2016).
CC -!- FUNCTION: Endothelins are endothelium-derived vasoconstrictor peptides.
CC -!- SUBCELLULAR LOCATION: Secreted.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=Long;
CC IsoId=P14138-1; Sequence=Displayed;
CC Name=Short;
CC IsoId=P14138-2; Sequence=VSP_001445;
CC Name=3;
CC IsoId=P14138-3; Sequence=VSP_043139;
CC -!- TISSUE SPECIFICITY: Expressed in trophoblasts and placental stem villi
CC vessels, but not in cultured placental smooth muscle cells.
CC {ECO:0000269|PubMed:9284755}.
CC -!- DISEASE: Hirschsprung disease 4 (HSCR4) [MIM:613712]: A disorder of
CC neural crest development characterized by absence of enteric ganglia
CC along a variable length of the intestine. It is the most common cause
CC of congenital intestinal obstruction. Early symptoms range from
CC complete acute neonatal obstruction, characterized by vomiting,
CC abdominal distention and failure to pass stool, to chronic constipation
CC in the older child. {ECO:0000269|PubMed:9359047}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- DISEASE: Waardenburg syndrome 4B (WS4B) [MIM:613265]: A disorder
CC characterized by the association of Waardenburg features
CC (depigmentation and deafness) with the absence of enteric ganglia in
CC the distal part of the intestine (Hirschsprung disease).
CC {ECO:0000269|PubMed:11303518, ECO:0000269|PubMed:12189494,
CC ECO:0000269|PubMed:8630503}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the endothelin/sarafotoxin family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAR16083.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/edn3/";
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DR EMBL; J05081; AAA52405.1; -; mRNA.
DR EMBL; X52001; CAA36252.1; -; mRNA.
DR EMBL; BT007085; AAP35748.1; -; mRNA.
DR EMBL; AY444503; AAR16083.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL035250; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW75434.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75435.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75437.1; -; Genomic_DNA.
DR EMBL; BC008876; AAH08876.1; -; mRNA.
DR EMBL; BC053866; AAH53866.1; -; mRNA.
DR CCDS; CCDS13477.1; -. [P14138-1]
DR CCDS; CCDS13478.1; -. [P14138-2]
DR CCDS; CCDS13479.1; -. [P14138-3]
DR PIR; A34378; A34378.
DR RefSeq; NP_001289384.1; NM_001302455.1.
DR RefSeq; NP_001289385.1; NM_001302456.1.
DR RefSeq; NP_996915.1; NM_207032.2. [P14138-3]
DR RefSeq; NP_996916.1; NM_207033.2. [P14138-2]
DR RefSeq; NP_996917.1; NM_207034.2. [P14138-1]
DR PDB; 6IGK; X-ray; 2.00 A; B=97-117.
DR PDBsum; 6IGK; -.
DR AlphaFoldDB; P14138; -.
DR BMRB; P14138; -.
DR SMR; P14138; -.
DR BioGRID; 108230; 132.
DR STRING; 9606.ENSP00000337128; -.
DR iPTMnet; P14138; -.
DR PhosphoSitePlus; P14138; -.
DR BioMuta; EDN3; -.
DR DMDM; 119618; -.
DR MassIVE; P14138; -.
DR PaxDb; P14138; -.
DR PeptideAtlas; P14138; -.
DR PRIDE; P14138; -.
DR ProteomicsDB; 53025; -. [P14138-1]
DR ProteomicsDB; 53026; -. [P14138-2]
DR ProteomicsDB; 53027; -. [P14138-3]
DR Antibodypedia; 29284; 302 antibodies from 30 providers.
DR DNASU; 1908; -.
DR Ensembl; ENST00000311585.11; ENSP00000311854.7; ENSG00000124205.18. [P14138-3]
DR Ensembl; ENST00000337938.7; ENSP00000337128.2; ENSG00000124205.18. [P14138-1]
DR Ensembl; ENST00000371028.6; ENSP00000360067.2; ENSG00000124205.18. [P14138-1]
DR Ensembl; ENST00000395654.3; ENSP00000379015.3; ENSG00000124205.18. [P14138-2]
DR GeneID; 1908; -.
DR KEGG; hsa:1908; -.
DR MANE-Select; ENST00000337938.7; ENSP00000337128.2; NM_207034.3; NP_996917.1.
DR UCSC; uc002yap.4; human. [P14138-1]
DR CTD; 1908; -.
DR DisGeNET; 1908; -.
DR GeneCards; EDN3; -.
DR HGNC; HGNC:3178; EDN3.
DR HPA; ENSG00000124205; Tissue enhanced (brain, vagina).
DR MalaCards; EDN3; -.
DR MIM; 131242; gene.
DR MIM; 613265; phenotype.
DR MIM; 613712; phenotype.
DR neXtProt; NX_P14138; -.
DR OpenTargets; ENSG00000124205; -.
DR Orphanet; 661; Congenital central hypoventilation syndrome.
DR Orphanet; 388; Hirschsprung disease.
DR Orphanet; 897; Waardenburg-Shah syndrome.
DR PharmGKB; PA27616; -.
DR VEuPathDB; HostDB:ENSG00000124205; -.
DR eggNOG; ENOG502S4W0; Eukaryota.
DR GeneTree; ENSGT00950000183053; -.
DR InParanoid; P14138; -.
DR OMA; QPSKWTL; -.
DR OrthoDB; 1264335at2759; -.
DR PhylomeDB; P14138; -.
DR TreeFam; TF333184; -.
DR PathwayCommons; P14138; -.
DR Reactome; R-HSA-375276; Peptide ligand-binding receptors.
DR Reactome; R-HSA-416476; G alpha (q) signalling events.
DR SignaLink; P14138; -.
DR SIGNOR; P14138; -.
DR BioGRID-ORCS; 1908; 8 hits in 1062 CRISPR screens.
DR GeneWiki; Endothelin_3; -.
DR GenomeRNAi; 1908; -.
DR Pharos; P14138; Tbio.
DR PRO; PR:P14138; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; P14138; protein.
DR Bgee; ENSG00000124205; Expressed in penis and 114 other tissues.
DR ExpressionAtlas; P14138; baseline and differential.
DR Genevisible; P14138; HS.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0005615; C:extracellular space; IDA:BHF-UCL.
DR GO; GO:0031708; F:endothelin B receptor binding; IPI:BHF-UCL.
DR GO; GO:0005179; F:hormone activity; IDA:BHF-UCL.
DR GO; GO:0005102; F:signaling receptor binding; TAS:ProtInc.
DR GO; GO:0048675; P:axon extension; IEA:Ensembl.
DR GO; GO:0007411; P:axon guidance; IEA:Ensembl.
DR GO; GO:0008015; P:blood circulation; TAS:ProtInc.
DR GO; GO:0008283; P:cell population proliferation; IEA:Ensembl.
DR GO; GO:0007166; P:cell surface receptor signaling pathway; IDA:BHF-UCL.
DR GO; GO:0007267; P:cell-cell signaling; TAS:ProtInc.
DR GO; GO:0006874; P:cellular calcium ion homeostasis; IBA:GO_Central.
DR GO; GO:0010961; P:cellular magnesium ion homeostasis; IEA:Ensembl.
DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl.
DR GO; GO:0048016; P:inositol phosphate-mediated signaling; IDA:BHF-UCL.
DR GO; GO:0030318; P:melanocyte differentiation; IEA:Ensembl.
DR GO; GO:0001755; P:neural crest cell migration; IEA:Ensembl.
DR GO; GO:0030593; P:neutrophil chemotaxis; IDA:BHF-UCL.
DR GO; GO:0030072; P:peptide hormone secretion; IDA:BHF-UCL.
DR GO; GO:0045597; P:positive regulation of cell differentiation; IGI:MGI.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IDA:MGI.
DR GO; GO:0010460; P:positive regulation of heart rate; IDA:BHF-UCL.
DR GO; GO:0046887; P:positive regulation of hormone secretion; IDA:BHF-UCL.
DR GO; GO:0002690; P:positive regulation of leukocyte chemotaxis; IDA:BHF-UCL.
DR GO; GO:0043406; P:positive regulation of MAP kinase activity; IDA:BHF-UCL.
DR GO; GO:0045840; P:positive regulation of mitotic nuclear division; IDA:BHF-UCL.
DR GO; GO:1901381; P:positive regulation of potassium ion transmembrane transport; IEA:Ensembl.
DR GO; GO:0060585; P:positive regulation of prostaglandin-endoperoxide synthase activity; IBA:GO_Central.
DR GO; GO:0071805; P:potassium ion transmembrane transport; IEA:Ensembl.
DR GO; GO:0048070; P:regulation of developmental pigmentation; IEA:Ensembl.
DR GO; GO:0010468; P:regulation of gene expression; IGI:MGI.
DR GO; GO:0003100; P:regulation of systemic arterial blood pressure by endothelin; IDA:BHF-UCL.
DR GO; GO:0019229; P:regulation of vasoconstriction; IEA:InterPro.
DR GO; GO:0007165; P:signal transduction; TAS:ProtInc.
DR GO; GO:0042310; P:vasoconstriction; IDA:BHF-UCL.
DR GO; GO:0014826; P:vein smooth muscle contraction; IDA:BHF-UCL.
DR InterPro; IPR020475; Endothelin.
DR InterPro; IPR019764; Endothelin_toxin_CS.
DR InterPro; IPR001928; Endothln-like_toxin.
DR PANTHER; PTHR13874; PTHR13874; 1.
DR Pfam; PF00322; Endothelin; 1.
DR PRINTS; PR00365; ENDOTHELIN.
DR SMART; SM00272; END; 2.
DR PROSITE; PS00270; ENDOTHELIN; 2.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cleavage on pair of basic residues;
KW Deafness; Direct protein sequencing; Disease variant; Disulfide bond;
KW Hirschsprung disease; Reference proteome; Secreted; Signal; Vasoactive;
KW Vasoconstrictor; Waardenburg syndrome.
FT SIGNAL 1..16
FT /evidence="ECO:0000255"
FT PROPEP 17..94
FT /id="PRO_0000008111"
FT PEPTIDE 97..117
FT /note="Endothelin-3"
FT /id="PRO_0000008112"
FT PROPEP 118..238
FT /id="PRO_0000008113"
FT REGION 24..89
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 159..173
FT /note="Endothelin-like"
FT REGION 183..219
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 184..208
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 117..118
FT /note="Cleavage; by KEL"
FT DISULFID 97..111
FT DISULFID 99..107
FT VAR_SEQ 181..196
FT /note="SNSRTAEKTDKEEEGK -> RQ (in isoform Short)"
FT /evidence="ECO:0000303|PubMed:2178974"
FT /id="VSP_001445"
FT VAR_SEQ 198..238
FT /note="EVKDQQSKQALDLHHPKLMPGSGLALAPSTCPRCLFQEGAP -> RGANRGL
FT CQRRLKSRTNKASRL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_043139"
FT VARIANT 17
FT /note="A -> T (in dbSNP:rs11570255)"
FT /evidence="ECO:0000269|PubMed:27535533,
FT ECO:0000269|PubMed:9359047, ECO:0000269|Ref.4"
FT /id="VAR_009078"
FT VARIANT 127
FT /note="Y -> C (in WS4B; dbSNP:rs752400458)"
FT /evidence="ECO:0000269|PubMed:12189494"
FT /id="VAR_015238"
FT VARIANT 159
FT /note="C -> F (in WS4B; dbSNP:rs74315384)"
FT /evidence="ECO:0000269|PubMed:8630503"
FT /id="VAR_002353"
FT VARIANT 224
FT /note="A -> T (in HSCR4; risk factor associated with
FT disease susceptibility; dbSNP:rs11570351)"
FT /evidence="ECO:0000269|PubMed:9359047"
FT /id="VAR_009079"
FT HELIX 105..113
FT /evidence="ECO:0007829|PDB:6IGK"
SQ SEQUENCE 238 AA; 25454 MW; 7D7E90BC7DE37273 CRC64;
MEPGLWLLFG LTVTSAAGFV PCSQSGDAGR RGVSQAPTAA RSEGDCEETV AGPGEETVAG
PGEGTVAPTA LQGPSPGSPG QEQAAEGAPE HHRSRRCTCF TYKDKECVYY CHLDIIWINT
PEQTVPYGLS NYRGSFRGKR SAGPLPGNLQ LSHRPHLRCA CVGRYDKACL HFCTQTLDVS
SNSRTAEKTD KEEEGKVEVK DQQSKQALDL HHPKLMPGSG LALAPSTCPR CLFQEGAP
