ID   IGSF6_HUMAN             Reviewed;         241 AA.
AC   O95976; Q8WWD8;
DT   26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT   26-FEB-2008, sequence version 2.
DT   12-AUG-2020, entry version 138.
DE   RecName: Full=Immunoglobulin superfamily member 6;
DE            Short=IgSF6;
DE   AltName: Full=Protein DORA;
DE   Flags: Precursor;
GN   Name=IGSF6; Synonyms=DORA;
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], TISSUE SPECIFICITY, INDUCTION, AND VARIANT
RP   LYS-186.
RX   PubMed=9809579; DOI=10.1016/s0161-5890(98)00045-5;
RA   Bates E.E.M., Dieu M.-C., Ravel O., Zurawski S.M., Patel S., Bridon J.-M.,
RA   Ait-Yahia S., Vega F. Jr., Banchereau J., Lebecque S.;
RT   "CD40L activation of dendritic cells down-regulates DORA, a novel member of
RT   the immunoglobulin superfamily.";
RL   Mol. Immunol. 35:513-524(1998).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-74.
RC   TISSUE=Lung;
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   [3]
RP   ASSOCIATION WITH INFLAMMATORY BOWEL DISEASE LOCUS.
RX   PubMed=11132146; DOI=10.1007/s002510000259;
RA   Bates E.E.M., Kissenpfennig A., Peronne C., Mattei M.-G., Fossiez F.,
RA   Malissen B., Lebecque S.;
RT   "The mouse and human IGSF6 (DORA) genes map to the inflammatory bowel
RT   disease 1 locus and are embedded in an intron of a gene of unknown
RT   function.";
RL   Immunogenetics 52:112-120(2000).
RN   [4]
RP   VARIANTS SER-173 AND LYS-186.
RX   PubMed=12786995; DOI=10.1046/j.1365-2370.2003.00387.x;
RA   King K., Moody A., Fisher S.A., Mirza M.M., Cuthbert A.P., Hampe J.,
RA   Sutherland-Craggs A., Sanderson J., MacPherson A.J., Forbes A.,
RA   Mansfield J., Schreiber S., Lewis C.M., Mathew C.G.;
RT   "Genetic variation in the IGSF6 gene and lack of association with
RT   inflammatory bowel disease.";
RL   Eur. J. Immunogenet. 30:187-190(2003).
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC       membrane protein {ECO:0000305}.
CC   -!- TISSUE SPECIFICITY: Expressed in peripheral blood lymphocytes, spleen
CC       and lymph node, with low levels in thymus, bone marrow and fetal liver.
CC       No expression in non-immune tissues. {ECO:0000269|PubMed:9809579}.
CC   -!- INDUCTION: By TNF and CSF2/GM-CSF in dendritic cells and down
CC       regulation by phorbol myristate acetate (PMA) and ionomycin in
CC       monocytes. {ECO:0000269|PubMed:9809579}.
CC   -!- MISCELLANEOUS: This gene is localized to a locus associated with
CC       inflammatory bowel disease. It is coded entirely within the intron of
CC       METTL9 which is transcribed in the opposite strand of the DNA.
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DR   EMBL; AJ223183; CAA11155.1; -; mRNA.
DR   EMBL; BC017844; AAH17844.1; -; mRNA.
DR   CCDS; CCDS10599.1; -.
DR   RefSeq; NP_005840.2; NM_005849.3.
DR   BioGRID; 115553; 10.
DR   IntAct; O95976; 7.
DR   STRING; 9606.ENSP00000268389; -.
DR   iPTMnet; O95976; -.
DR   PhosphoSitePlus; O95976; -.
DR   BioMuta; IGSF6; -.
DR   jPOST; O95976; -.
DR   MassIVE; O95976; -.
DR   PaxDb; O95976; -.
DR   PeptideAtlas; O95976; -.
DR   PRIDE; O95976; -.
DR   ProteomicsDB; 51156; -.
DR   Antibodypedia; 25724; 187 antibodies.
DR   DNASU; 10261; -.
DR   Ensembl; ENST00000268389; ENSP00000268389; ENSG00000140749.
DR   GeneID; 10261; -.
DR   KEGG; hsa:10261; -.
DR   UCSC; uc002djg.3; human.
DR   CTD; 10261; -.
DR   DisGeNET; 10261; -.
DR   EuPathDB; HostDB:ENSG00000140749.8; -.
DR   GeneCards; IGSF6; -.
DR   HGNC; HGNC:5953; IGSF6.
DR   HPA; ENSG00000140749; Group enriched (blood, lymphoid tissue).
DR   MIM; 606222; gene.
DR   neXtProt; NX_O95976; -.
DR   OpenTargets; ENSG00000140749; -.
DR   PharmGKB; PA29766; -.
DR   eggNOG; ENOG502S4JY; Eukaryota.
DR   GeneTree; ENSGT00390000014131; -.
DR   HOGENOM; CLU_1160783_0_0_1; -.
DR   InParanoid; O95976; -.
DR   OMA; KDNTYEN; -.
DR   OrthoDB; 1230760at2759; -.
DR   PhylomeDB; O95976; -.
DR   TreeFam; TF335767; -.
DR   PathwayCommons; O95976; -.
DR   BioGRID-ORCS; 10261; 3 hits in 864 CRISPR screens.
DR   GenomeRNAi; 10261; -.
DR   Pharos; O95976; Tbio.
DR   PRO; PR:O95976; -.
DR   Proteomes; UP000005640; Chromosome 16.
DR   RNAct; O95976; protein.
DR   Bgee; ENSG00000140749; Expressed in blood and 184 other tissues.
DR   ExpressionAtlas; O95976; baseline and differential.
DR   Genevisible; O95976; HS.
DR   GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
DR   GO; GO:0004888; F:transmembrane signaling receptor activity; TAS:ProtInc.
DR   GO; GO:0007166; P:cell surface receptor signaling pathway; TAS:ProtInc.
DR   GO; GO:0006955; P:immune response; TAS:ProtInc.
DR   Gene3D; 2.60.40.10; -; 1.
DR   InterPro; IPR007110; Ig-like_dom.
DR   InterPro; IPR036179; Ig-like_dom_sf.
DR   InterPro; IPR013783; Ig-like_fold.
DR   InterPro; IPR013106; Ig_V-set.
DR   InterPro; IPR039089; IGSF6.
DR   PANTHER; PTHR15297; PTHR15297; 1.
DR   Pfam; PF07686; V-set; 1.
DR   SMART; SM00406; IGv; 1.
DR   SUPFAM; SSF48726; SSF48726; 1.
DR   PROSITE; PS50835; IG_LIKE; 1.
PE   2: Evidence at transcript level;
KW   Disulfide bond; Immunoglobulin domain; Membrane; Polymorphism;
KW   Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT   SIGNAL          1..27
FT                   /evidence="ECO:0000255"
FT   CHAIN           28..241
FT                   /note="Immunoglobulin superfamily member 6"
FT                   /id="PRO_5000065014"
FT   TOPO_DOM        28..153
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        154..174
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        175..241
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   DOMAIN          30..134
FT                   /note="Ig-like C2-type"
FT   DISULFID        51..118
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT   VARIANT         74
FT                   /note="Q -> R (in dbSNP:rs17851574)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_039137"
FT   VARIANT         173
FT                   /note="F -> S (in dbSNP:rs2290612)"
FT                   /evidence="ECO:0000269|PubMed:12786995"
FT                   /id="VAR_039138"
FT   VARIANT         186
FT                   /note="N -> K (in dbSNP:rs751849987)"
FT                   /evidence="ECO:0000269|PubMed:12786995,
FT                   ECO:0000269|PubMed:9809579"
FT                   /id="VAR_039139"
FT   CONFLICT        188
FT                   /note="E -> K (in Ref. 2; AAH17844)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   241 AA;  27013 MW;  1FA0637611138193 CRC64;
     MGTASRSNIA RHLQTNLILF CVGAVGACTL SVTQPWYLEV DYTHEAVTIK CTFSATGCPS
     EQPTCLWFRY GAHQPENLCL DGCKSEADKF TVREALKENQ VSLTVNRVTS NDSAIYICGI
     AFPSVPEARA KQTGGGTTLV VREIKLLSKE LRSFLTALVS LLSVYVTGVC VAFILLSKSK
     SNPLRNKEIK EDSQKKKSAR RIFQEIAQEL YHKRHVETNQ QSEKDNNTYE NRRVLSNYER
     P
//