IGSF6_HUMAN
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 03-AUG-2022, entry version 146.
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 AlphaFoldDB; O95976; -.
DR SMR; O95976; -.
DR BioGRID; 115553; 42.
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; 200 antibodies from 23 providers.
DR DNASU; 10261; -.
DR Ensembl; ENST00000268389.6; ENSP00000268389.4; ENSG00000140749.9.
DR GeneID; 10261; -.
DR KEGG; hsa:10261; -.
DR MANE-Select; ENST00000268389.6; ENSP00000268389.4; NM_005849.4; NP_005840.2.
DR UCSC; uc002djg.3; human.
DR CTD; 10261; -.
DR DisGeNET; 10261; -.
DR GeneCards; IGSF6; -.
DR HGNC; HGNC:5953; IGSF6.
DR HPA; ENSG00000140749; Tissue enhanced (lymphoid).
DR MIM; 606222; gene.
DR neXtProt; NX_O95976; -.
DR OpenTargets; ENSG00000140749; -.
DR PharmGKB; PA29766; -.
DR VEuPathDB; HostDB:ENSG00000140749; -.
DR eggNOG; ENOG502S4JY; Eukaryota.
DR GeneTree; ENSGT00390000014131; -.
DR HOGENOM; CLU_1160783_0_0_1; -.
DR InParanoid; O95976; -.
DR OMA; TSLWFRY; -.
DR OrthoDB; 1230760at2759; -.
DR PhylomeDB; O95976; -.
DR TreeFam; TF335767; -.
DR PathwayCommons; O95976; -.
DR SignaLink; O95976; -.
DR SIGNOR; O95976; -.
DR BioGRID-ORCS; 10261; 11 hits in 1061 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 monocyte and 105 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; Reference proteome;
KW 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 REGION 214..241
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
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