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Interleukin-23 receptor (IL-23 receptor) (IL-23R)

 IL23R_HUMAN             Reviewed;         629 AA.
Q5VWK5; C9JGX4; Q4VGP1; Q4VGP2; Q4VGP3; Q4VGP4; Q4VGP5; Q4VGP6;
Q5VWK7; Q8IW84; Q8NFQ9; Q96AS1;
12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
02-NOV-2010, sequence version 3.
25-OCT-2017, entry version 125.
RecName: Full=Interleukin-23 receptor;
Short=IL-23 receptor;
Short=IL-23R;
Flags: Precursor;
Name=IL23R;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH
IL23; IL12RB1; JAK2 AND STAT3, PHOSPHORYLATION, TISSUE SPECIFICITY,
SUBCELLULAR LOCATION, AND VARIANT PRO-310.
TISSUE=Natural killer cell, and T-cell;
PubMed=12023369; DOI=10.4049/jimmunol.168.11.5699;
Parham C., Chirica M., Timans J., Vaisberg E., Travis M., Cheung J.,
Pflanz S., Zhang R., Singh K.P., Vega F., To W., Wagner J.,
O'Farrell A.-M., McClanahan T.K., Zurawski S., Hannum C., Gorman D.,
Rennick D.M., Kastelein R.A., de Waal Malefyt R., Moore K.W.;
"A receptor for the heterodimeric cytokine IL-23 is composed of IL-
12Rbeta1 and a novel cytokine receptor subunit, IL-23R.";
J. Immunol. 168:5699-5708(2002).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 5), NUCLEOTIDE SEQUENCE
[MRNA] OF 37-629 (ISOFORMS 1; 3 AND 4), TISSUE SPECIFICITY, AND
VARIANT PRO-310.
TISSUE=Bone marrow;
PubMed=16372191; DOI=10.1007/s00251-005-0067-0;
Zhang X.-Y., Zhang H.-J., Zhang Y., Fu Y.-J., He J., Zhu L.-P.,
Wang S.-H., Liu L.;
"Identification and expression analysis of alternatively spliced
isoforms of human interleukin-23 receptor gene in normal lymphoid
cells and selected tumor cells.";
Immunogenetics 57:934-943(2006).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
Beck S., Rogers J., Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 6 AND 7), AND VARIANT
PRO-310.
TISSUE=Bone marrow, and Skin;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
INVOLVEMENT IN IBD17, VARIANTS HIS-3; PRO-310 AND GLN-381, AND
CHARACTERIZATION OF VARIANT GLN-381.
PubMed=17068223; DOI=10.1126/science.1135245;
Duerr R.H., Taylor K.D., Brant S.R., Rioux J.D., Silverberg M.S.,
Daly M.J., Steinhart A.H., Abraham C., Regueiro M., Griffiths A.,
Dassopoulos T., Bitton A., Yang H., Targan S., Datta L.W.,
Kistner E.O., Schumm L.P., Lee A.T., Gregersen P.K., Barmada M.M.,
Rotter J.I., Nicolae D.L., Cho J.H.;
"A genome-wide association study identifies IL23R as an inflammatory
bowel disease gene.";
Science 314:1461-1463(2006).
[6]
VARIANT GLN-381, AND CHARACTERIZATION OF VARIANT GLN-381.
PubMed=17587057; DOI=10.1007/s00439-007-0397-0;
Capon F., Di Meglio P., Szaub J., Prescott N.J., Dunster C.,
Baumber L., Timms K., Gutin A., Abkevic V., Burden A.D., Lanchbury J.,
Barker J.N., Trembath R.C., Nestle F.O.;
"Sequence variants in the genes for the interleukin-23 receptor
(IL23R) and its ligand (IL12B) confer protection against psoriasis.";
Hum. Genet. 122:201-206(2007).
[7]
INVOLVEMENT IN IBD17, AND VARIANT GLN-381.
PubMed=17804789; DOI=10.1073/pnas.0706645104;
Raelson J.V., Little R.D., Ruether A., Fournier H., Paquin B.,
Van Eerdewegh P., Bradley W.E.C., Croteau P., Nguyen-Huu Q., Segal J.,
Debrus S., Allard R., Rosenstiel P., Franke A., Jacobs G.,
Nikolaus S., Vidal J.-M., Szego P., Laplante N., Clark H.F.,
Paulussen R.J., Hooper J.W., Keith T.P., Belouchi A., Schreiber S.;
"Genome-wide association study for Crohn's disease in the Quebec
founder population identifies multiple validated disease loci.";
Proc. Natl. Acad. Sci. U.S.A. 104:14747-14752(2007).
[8]
VARIANTS PRO-310 AND GLN-381, AND CHARACTERIZATION OF VARIANT GLN-381.
PubMed=18800148; DOI=10.1038/jid.2008.233;
Huffmeier U., Lascorz J., Bohm B., Lohmann J., Wendler J., Mossner R.,
Reich K., Traupe H., Kurrat W., Burkhardt H., Reis A.;
"Genetic variants of the IL-23R pathway: association with psoriatic
arthritis and psoriasis vulgaris, but no specific risk factor for
arthritis.";
J. Invest. Dermatol. 129:355-358(2009).
[9]
GLYCOSYLATION AT ASN-29; ASN-47; ASN-81; ASN-141; ASN-180; ASN-232;
ASN-262 AND ASN-273.
PubMed=21053369; DOI=10.1002/jms.1858;
Zhao J., Liu Y.H., Reichert P., Pflanz S., Pramanik B.;
"Glycosylation analysis of interleukin-23 receptor: elucidation of
glycosylation sites and characterization of attached glycan
structures.";
J. Mass Spectrom. 45:1416-1425(2010).
-!- FUNCTION: Associates with IL12RB1 to form the interleukin-23
receptor. Binds IL23 and mediates T-cells, NK cells and possibly
certain macrophage/myeloid cells stimulation probably through
activation of the Jak-Stat signaling cascade. IL23 functions in
innate and adaptive immunity and may participate in acute response
to infection in peripheral tissues. IL23 may be responsible for
autoimmune inflammatory diseases and be important for
tumorigenesis. {ECO:0000269|PubMed:12023369}.
-!- SUBUNIT: Heterodimer with IL12RB1. In presence of IL23, the
heterodimer forms the IL23 receptor. Interacts with JAK2 and in
presence of IL23 with STAT3. {ECO:0000269|PubMed:12023369}.
-!- INTERACTION:
Q13901:C1D; NbExp=3; IntAct=EBI-10248005, EBI-3844053;
Q62120:Jak2 (xeno); NbExp=2; IntAct=EBI-10248005, EBI-646604;
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12023369};
Single-pass type I membrane protein {ECO:0000269|PubMed:12023369}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=7;
Name=1; Synonyms=IL-23R1;
IsoId=Q5VWK5-1; Sequence=Displayed;
Name=2; Synonyms=IL-23R2-F2;
IsoId=Q5VWK5-2; Sequence=VSP_021993;
Note=Produced by translation in an alternate frame of the cDNA
encoding isoform 4. No experimental confirmation available.;
Name=3; Synonyms=IL-23R3-F1;
IsoId=Q5VWK5-3; Sequence=VSP_021997, VSP_021998;
Note=Produced by translation in an alternate frame of the cDNA
encoding isoform 5. No experimental confirmation available.;
Name=4; Synonyms=IL-23R2-F1;
IsoId=Q5VWK5-4; Sequence=VSP_021994, VSP_021995;
Note=Produced by translation in an alternate frame of the cDNA
encoding isoform 2. No experimental confirmation available.;
Name=5; Synonyms=IL-23R3-F3;
IsoId=Q5VWK5-5; Sequence=VSP_021991, VSP_021999;
Note=Produced by translation in an alternate frame of the cDNA
encoding isoform 3. No experimental confirmation available.;
Name=6; Synonyms=IL-23R6;
IsoId=Q5VWK5-6; Sequence=VSP_021992, VSP_021996;
Note=No experimental confirmation available.;
Name=7; Synonyms=IL-23R5;
IsoId=Q5VWK5-7; Sequence=VSP_021990;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Expressed by monocytes, Th1, Th0, NK and
dendritic cells. Isoform 1 is specifically expressed in NK cells.
{ECO:0000269|PubMed:12023369, ECO:0000269|PubMed:16372191}.
-!- PTM: Phosphorylated in response to IL23.
{ECO:0000269|PubMed:12023369}.
-!- DISEASE: Inflammatory bowel disease 17 (IBD17) [MIM:612261]: A
chronic, relapsing inflammation of the gastrointestinal tract with
a complex etiology. It is subdivided into Crohn disease and
ulcerative colitis phenotypes. Crohn disease may affect any part
of the gastrointestinal tract from the mouth to the anus, but most
frequently it involves the terminal ileum and colon. Bowel
inflammation is transmural and discontinuous; it may contain
granulomas or be associated with intestinal or perianal fistulas.
In contrast, in ulcerative colitis, the inflammation is continuous
and limited to rectal and colonic mucosal layers; fistulas and
granulomas are not observed. Both diseases include extraintestinal
inflammation of the skin, eyes, or joints.
{ECO:0000269|PubMed:17068223, ECO:0000269|PubMed:17804789}.
Note=Disease susceptibility is associated with variations
affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the type I cytokine receptor family. Type 2
subfamily. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAH16829.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Sequence=CAH70408.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Sequence=CAI22679.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
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EMBL; AF461422; AAM44229.1; -; mRNA.
EMBL; AY937250; AAY18345.1; -; mRNA.
EMBL; AY937251; AAY18346.1; -; mRNA.
EMBL; AY937252; AAY18347.1; -; mRNA.
EMBL; AY937253; AAY18348.1; -; mRNA.
EMBL; AY937254; AAY18349.1; -; mRNA.
EMBL; AY937255; AAY18350.1; -; mRNA.
EMBL; AL389925; CAH70406.1; -; Genomic_DNA.
EMBL; AL109843; CAH70406.1; JOINED; Genomic_DNA.
EMBL; AL389925; CAH70408.1; ALT_INIT; Genomic_DNA.
EMBL; AL109843; CAH70408.1; JOINED; Genomic_DNA.
EMBL; AL109843; CAI22678.1; -; Genomic_DNA.
EMBL; AL389925; CAI22678.1; JOINED; Genomic_DNA.
EMBL; AL109843; CAI22679.1; ALT_INIT; Genomic_DNA.
EMBL; AL389925; CAI22679.1; JOINED; Genomic_DNA.
EMBL; BC016829; AAH16829.1; ALT_INIT; mRNA.
EMBL; BC040720; AAH40720.1; -; mRNA.
CCDS; CCDS637.1; -. [Q5VWK5-1]
RefSeq; NP_653302.2; NM_144701.2. [Q5VWK5-1]
RefSeq; XP_005270573.1; XM_005270516.2. [Q5VWK5-2]
RefSeq; XP_011539092.1; XM_011540790.2. [Q5VWK5-1]
RefSeq; XP_011539093.1; XM_011540791.2. [Q5VWK5-1]
UniGene; Hs.677426; -.
ProteinModelPortal; Q5VWK5; -.
SMR; Q5VWK5; -.
BioGrid; 127199; 3.
IntAct; Q5VWK5; 6.
STRING; 9606.ENSP00000321345; -.
iPTMnet; Q5VWK5; -.
PhosphoSitePlus; Q5VWK5; -.
UniCarbKB; Q5VWK5; -.
BioMuta; IL23R; -.
DMDM; 311033431; -.
PaxDb; Q5VWK5; -.
PeptideAtlas; Q5VWK5; -.
PRIDE; Q5VWK5; -.
DNASU; 149233; -.
Ensembl; ENST00000347310; ENSP00000321345; ENSG00000162594. [Q5VWK5-1]
Ensembl; ENST00000395227; ENSP00000378652; ENSG00000162594. [Q5VWK5-7]
Ensembl; ENST00000425614; ENSP00000387640; ENSG00000162594. [Q5VWK5-6]
GeneID; 149233; -.
KEGG; hsa:149233; -.
UCSC; uc001ddo.4; human. [Q5VWK5-1]
CTD; 149233; -.
DisGeNET; 149233; -.
EuPathDB; HostDB:ENSG00000162594.14; -.
GeneCards; IL23R; -.
H-InvDB; HIX0023553; -.
HGNC; HGNC:19100; IL23R.
HPA; HPA056427; -.
MalaCards; IL23R; -.
MIM; 607562; gene.
MIM; 612261; phenotype.
neXtProt; NX_Q5VWK5; -.
OpenTargets; ENSG00000162594; -.
Orphanet; 117; Behcet disease.
Orphanet; 206; Crohn disease.
Orphanet; 771; Ulcerative colitis.
PharmGKB; PA134935109; -.
eggNOG; ENOG410IHH9; Eukaryota.
eggNOG; ENOG410YRR7; LUCA.
GeneTree; ENSGT00530000064198; -.
HOVERGEN; HBG081787; -.
InParanoid; Q5VWK5; -.
KO; K05065; -.
OMA; GNMTCTW; -.
OrthoDB; EOG091G01O8; -.
PhylomeDB; Q5VWK5; -.
TreeFam; TF335930; -.
Reactome; R-HSA-447115; Interleukin-12 family signaling.
Reactome; R-HSA-6785807; Interleukin-4 and 13 signaling.
SignaLink; Q5VWK5; -.
SIGNOR; Q5VWK5; -.
GeneWiki; Interleukin-23_receptor; -.
GenomeRNAi; 149233; -.
PRO; PR:Q5VWK5; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000162594; -.
ExpressionAtlas; Q5VWK5; baseline and differential.
Genevisible; Q5VWK5; HS.
GO; GO:0072536; C:interleukin-23 receptor complex; IDA:BHF-UCL.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0043235; C:receptor complex; IDA:MGI.
GO; GO:0050829; P:defense response to Gram-negative bacterium; IC:BHF-UCL.
GO; GO:0006954; P:inflammatory response; IEA:UniProtKB-KW.
GO; GO:0035722; P:interleukin-12-mediated signaling pathway; TAS:Reactome.
GO; GO:0038155; P:interleukin-23-mediated signaling pathway; IEA:GOC.
GO; GO:0032693; P:negative regulation of interleukin-10 production; IMP:BHF-UCL.
GO; GO:0042104; P:positive regulation of activated T cell proliferation; IC:BHF-UCL.
GO; GO:0010536; P:positive regulation of activation of Janus kinase activity; IC:BHF-UCL.
GO; GO:0002230; P:positive regulation of defense response to virus by host; IDA:BHF-UCL.
GO; GO:0032725; P:positive regulation of granulocyte macrophage colony-stimulating factor production; IC:BHF-UCL.
GO; GO:0032729; P:positive regulation of interferon-gamma production; IDA:BHF-UCL.
GO; GO:0032735; P:positive regulation of interleukin-12 production; IDA:BHF-UCL.
GO; GO:0032740; P:positive regulation of interleukin-17 production; IC:BHF-UCL.
GO; GO:0043382; P:positive regulation of memory T cell differentiation; ISS:BHF-UCL.
GO; GO:0032819; P:positive regulation of natural killer cell proliferation; IC:BHF-UCL.
GO; GO:0051135; P:positive regulation of NK T cell activation; IC:BHF-UCL.
GO; GO:0045672; P:positive regulation of osteoclast differentiation; IC:BHF-UCL.
GO; GO:0001916; P:positive regulation of T cell mediated cytotoxicity; ISS:BHF-UCL.
GO; GO:0042102; P:positive regulation of T cell proliferation; IC:BHF-UCL.
GO; GO:0002827; P:positive regulation of T-helper 1 type immune response; IDA:BHF-UCL.
GO; GO:2000330; P:positive regulation of T-helper 17 cell lineage commitment; ISS:BHF-UCL.
GO; GO:2000318; P:positive regulation of T-helper 17 type immune response; ISS:BHF-UCL.
GO; GO:0042531; P:positive regulation of tyrosine phosphorylation of STAT protein; IC:BHF-UCL.
GO; GO:0042509; P:regulation of tyrosine phosphorylation of STAT protein; IC:BHF-UCL.
GO; GO:0034341; P:response to interferon-gamma; IDA:BHF-UCL.
GO; GO:0032496; P:response to lipopolysaccharide; IDA:BHF-UCL.
Gene3D; 2.60.40.10; -; 2.
InterPro; IPR003961; FN3_dom.
InterPro; IPR036116; FN3_sf.
InterPro; IPR013783; Ig-like_fold.
SUPFAM; SSF49265; SSF49265; 2.
PROSITE; PS50853; FN3; 2.
1: Evidence at protein level;
Alternative splicing; Cell membrane; Complete proteome; Glycoprotein;
Immunity; Inflammatory response; Innate immunity; Membrane;
Phosphoprotein; Polymorphism; Receptor; Reference proteome; Repeat;
Signal; Transmembrane; Transmembrane helix.
SIGNAL 1 23 {ECO:0000255}.
CHAIN 24 629 Interleukin-23 receptor.
/FTId=PRO_0000268662.
TOPO_DOM 24 355 Extracellular. {ECO:0000255}.
TRANSMEM 356 376 Helical. {ECO:0000255}.
TOPO_DOM 377 629 Cytoplasmic. {ECO:0000255}.
DOMAIN 127 217 Fibronectin type-III 1.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 219 318 Fibronectin type-III 2.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
CARBOHYD 29 29 N-linked (GlcNAc...) asparagine; partial.
{ECO:0000269|PubMed:21053369}.
CARBOHYD 47 47 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:21053369}.
CARBOHYD 81 81 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:21053369}.
CARBOHYD 141 141 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:21053369}.
CARBOHYD 180 180 N-linked (GlcNAc...) (high mannose)
asparagine.
{ECO:0000269|PubMed:21053369}.
CARBOHYD 232 232 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:21053369}.
CARBOHYD 262 262 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:21053369}.
CARBOHYD 273 273 N-linked (GlcNAc...) asparagine; partial.
{ECO:0000269|PubMed:21053369}.
VAR_SEQ 1 402 Missing (in isoform 7).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_021990.
VAR_SEQ 1 365 Missing (in isoform 5).
{ECO:0000303|PubMed:16372191}.
/FTId=VSP_021991.
VAR_SEQ 1 255 Missing (in isoform 6).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_021992.
VAR_SEQ 1 254 Missing (in isoform 2).
{ECO:0000303|PubMed:16372191}.
/FTId=VSP_021993.
VAR_SEQ 165 174 LETEEEQQYL -> DTFCSRHFQG (in isoform 4).
{ECO:0000303|PubMed:16372191}.
/FTId=VSP_021994.
VAR_SEQ 175 629 Missing (in isoform 4).
{ECO:0000303|PubMed:16372191}.
/FTId=VSP_021995.
VAR_SEQ 256 266 RYKATTNQTWN -> MILRPYQPCGT (in isoform
6). {ECO:0000303|PubMed:15489334}.
/FTId=VSP_021996.
VAR_SEQ 349 356 DNRGDIGL -> GLKEGSYC (in isoform 3).
{ECO:0000303|PubMed:16372191}.
/FTId=VSP_021997.
VAR_SEQ 357 629 Missing (in isoform 3).
{ECO:0000303|PubMed:16372191}.
/FTId=VSP_021998.
VAR_SEQ 366 383 MLSILSLIGIFNRSFRTG -> MEFWANSCFHLYRAPYFW
(in isoform 5).
{ECO:0000303|PubMed:16372191}.
/FTId=VSP_021999.
VARIANT 3 3 Q -> H (in dbSNP:rs1884444).
{ECO:0000269|PubMed:17068223}.
/FTId=VAR_029752.
VARIANT 175 175 T -> N (in dbSNP:rs11465797).
/FTId=VAR_047955.
VARIANT 310 310 L -> P (in dbSNP:rs7530511).
{ECO:0000269|PubMed:12023369,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:16372191,
ECO:0000269|PubMed:17068223,
ECO:0000269|PubMed:18800148}.
/FTId=VAR_029753.
VARIANT 381 381 R -> Q (polymorphism; associated with
reduced disease susceptibility; has a
protective effect against Crohn disease
and psoriasis; dbSNP:rs11209026).
{ECO:0000269|PubMed:17068223,
ECO:0000269|PubMed:17587057,
ECO:0000269|PubMed:17804789,
ECO:0000269|PubMed:18800148}.
/FTId=VAR_029754.
CONFLICT 46 46 M -> T (in Ref. 2; AAY18346).
{ECO:0000305}.
CONFLICT 133 133 C -> R (in Ref. 2; AAY18348).
{ECO:0000305}.
CONFLICT 302 302 R -> G (in Ref. 2; AAY18348).
{ECO:0000305}.
CONFLICT 475 475 V -> A (in Ref. 2; AAY18347).
{ECO:0000305}.
CONFLICT 481 481 N -> D (in Ref. 2; AAY18347).
{ECO:0000305}.
CONFLICT 581 581 S -> R (in Ref. 2; AAY18349).
{ECO:0000305}.
SEQUENCE 629 AA; 71722 MW; AC63C89E81AABF05 CRC64;
MNQVTIQWDA VIALYILFSW CHGGITNINC SGHIWVEPAT IFKMGMNISI YCQAAIKNCQ
PRKLHFYKNG IKERFQITRI NKTTARLWYK NFLEPHASMY CTAECPKHFQ ETLICGKDIS
SGYPPDIPDE VTCVIYEYSG NMTCTWNAGK LTYIDTKYVV HVKSLETEEE QQYLTSSYIN
ISTDSLQGGK KYLVWVQAAN ALGMEESKQL QIHLDDIVIP SAAVISRAET INATVPKTII
YWDSQTTIEK VSCEMRYKAT TNQTWNVKEF DTNFTYVQQS EFYLEPNIKY VFQVRCQETG
KRYWQPWSSL FFHKTPETVP QVTSKAFQHD TWNSGLTVAS ISTGHLTSDN RGDIGLLLGM
IVFAVMLSIL SLIGIFNRSF RTGIKRRILL LIPKWLYEDI PNMKNSNVVK MLQENSELMN
NNSSEQVLYV DPMITEIKEI FIPEHKPTDY KKENTGPLET RDYPQNSLFD NTTVVYIPDL
NTGYKPQISN FLPEGSHLSN NNEITSLTLK PPVDSLDSGN NPRLQKHPNF AFSVSSVNSL
SNTIFLGELS LILNQGECSS PDIQNSVEEE TTMLLENDSP SETIPEQTLL PDEFVSCLGI
VNEELPSINT YFPQNILESH FNRISLLEK


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