Full text data of GLCCI1
GLCCI1
[Confidence: low (only semi-automatic identification from reviews)]
Glucocorticoid-induced transcript 1 protein
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Glucocorticoid-induced transcript 1 protein
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q86VQ1
ID GLCI1_HUMAN Reviewed; 547 AA.
AC Q86VQ1; A4D103; Q96FD0;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-JUN-2003, sequence version 1.
DT 22-JAN-2014, entry version 75.
DE RecName: Full=Glucocorticoid-induced transcript 1 protein;
GN Name=GLCCI1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S.,
RA Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z.,
RA Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C.,
RA Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J.,
RA Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F.,
RA Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F.,
RA Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H.,
RA Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G.,
RA Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P.,
RA Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J.,
RA Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F.,
RA Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B.,
RA Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W.,
RA Mural R.J., Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cervix, and Testis;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP TISSUE SPECIFICITY.
RX PubMed=12557054; DOI=10.1007/s00251-002-0513-1;
RA Miazek A., Malissen B.;
RT "Two genes, three messengers: hybrid transcript between a gene
RT expressed at specific stages of T-cell and sperm maturation and an
RT unrelated adjacent gene.";
RL Immunogenetics 54:681-692(2003).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P.,
RA Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in
RT signaling networks.";
RL Cell 127:635-648(2006).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18220336; DOI=10.1021/pr0705441;
RA Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D.,
RA Yates J.R. III;
RT "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for
RT efficient phosphoproteomic analysis.";
RL J. Proteome Res. 7:1346-1351(2008).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-303 AND SER-345, AND
RP MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of
RT the kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-105; SER-108; SER-172;
RP THR-175 AND SER-345, AND MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-177, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [11]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-223; SER-258; SER-398
RP AND SER-480, AND MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [12]
RP INVOLVEMENT IN ASTHMA RESPONSE TO GLUCOCORTICOID TREATMENT, AND TISSUE
RP SPECIFICITY.
RX PubMed=21991891; DOI=10.1056/NEJMoa0911353;
RA Tantisira K.G., Lasky-Su J., Harada M., Murphy A., Litonjua A.A.,
RA Himes B.E., Lange C., Lazarus R., Sylvia J., Klanderman B., Duan Q.L.,
RA Qiu W., Hirota T., Martinez F.D., Mauger D., Sorkness C., Szefler S.,
RA Lazarus S.C., Lemanske R.F. Jr., Peters S.P., Lima J.J., Nakamura Y.,
RA Tamari M., Weiss S.T.;
RT "Genomewide association between GLCCI1 and response to glucocorticoid
RT therapy in asthma.";
RL N. Engl. J. Med. 365:1173-1183(2011).
RN [13]
RP INVOLVEMENT IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE RESPONSE TO
RP GLUCOCORTICOID TREATMENT.
RX PubMed=22187997; DOI=10.1056/NEJMc1112547#SA2;
RA Van den Berge M., Hiemstra P.S., Postma D.S.;
RT "Genetics of glucocorticoids in asthma.";
RL N. Engl. J. Med. 365:2434-2435(2011).
RN [14]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-223; SER-258 AND
RP SER-398, AND MASS SPECTROMETRY.
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
RA Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
RA Blagoev B.;
RT "System-wide temporal characterization of the proteome and
RT phosphoproteome of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
CC -!- TISSUE SPECIFICITY: Predominantly expressed in lung, spleen,
CC thymus and testis and, at lower levels, in brain, bone marrow,
CC peripheral leukocytes, skin and trachea.
CC -!- POLYMORPHISM: Polymorphisms dbSNP:rs37972 and dbSNP:rs37973,
CC located in GLCCI1 promoter region, are associated with a decreased
CC response to glucorticoid treatment [MIM:614400] in asthma patients
CC (PubMed:21991891), as well as in chronic obstructive pulmonary
CC disease patients (PubMed:22187997). The mean increase in forced
CC expiratory volume in 1 second in glucorticoid treated subjects who
CC are homozygous for the mutant (G) rs37973 allele is only about
CC one-third of that seen in similarly treated subjects who are
CC homozygous for the wild-type allele (A) (PubMed:21991891). These
CC polymorphisms affect GLCCI1 transcription level.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; CH236948; EAL24302.1; -; Genomic_DNA.
DR EMBL; CH471073; EAW93607.1; -; Genomic_DNA.
DR EMBL; BC011254; AAH11254.1; -; mRNA.
DR EMBL; BC050291; AAH50291.1; -; mRNA.
DR RefSeq; NP_612435.1; NM_138426.3.
DR UniGene; Hs.131673; -.
DR ProteinModelPortal; Q86VQ1; -.
DR IntAct; Q86VQ1; 3.
DR PhosphoSite; Q86VQ1; -.
DR DMDM; 74727602; -.
DR PaxDb; Q86VQ1; -.
DR PRIDE; Q86VQ1; -.
DR Ensembl; ENST00000223145; ENSP00000223145; ENSG00000106415.
DR GeneID; 113263; -.
DR KEGG; hsa:113263; -.
DR UCSC; uc003srk.4; human.
DR CTD; 113263; -.
DR GeneCards; GC07P007974; -.
DR HGNC; HGNC:18713; GLCCI1.
DR HPA; HPA001674; -.
DR HPA; HPA005987; -.
DR MIM; 614283; gene.
DR MIM; 614400; phenotype.
DR neXtProt; NX_Q86VQ1; -.
DR PharmGKB; PA38657; -.
DR eggNOG; NOG73383; -.
DR HOGENOM; HOG000252927; -.
DR HOVERGEN; HBG079782; -.
DR InParanoid; Q86VQ1; -.
DR OMA; DPHVHYP; -.
DR OrthoDB; EOG74XS6S; -.
DR PhylomeDB; Q86VQ1; -.
DR ChiTaRS; GLCCI1; human.
DR GeneWiki; GLCCI1; -.
DR GenomeRNAi; 113263; -.
DR NextBio; 78816; -.
DR PRO; PR:Q86VQ1; -.
DR ArrayExpress; Q86VQ1; -.
DR Bgee; Q86VQ1; -.
DR CleanEx; HS_GLCCI1; -.
DR Genevestigator; Q86VQ1; -.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR InterPro; IPR026639; Glcci1.
DR InterPro; IPR026642; Glcci1/FAM117.
DR PANTHER; PTHR14972; PTHR14972; 1.
DR PANTHER; PTHR14972:SF3; PTHR14972:SF3; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Complete proteome; Phosphoprotein; Reference proteome.
FT CHAIN 1 547 Glucocorticoid-induced transcript 1
FT protein.
FT /FTId=PRO_0000256128.
FT COILED 225 254 Potential.
FT COMPBIAS 5 13 Poly-Ser.
FT COMPBIAS 38 50 Poly-Gly.
FT COMPBIAS 86 90 Poly-Ala.
FT COMPBIAS 113 118 Poly-Ala.
FT COMPBIAS 525 528 Poly-Gln.
FT MOD_RES 105 105 Phosphoserine.
FT MOD_RES 108 108 Phosphoserine.
FT MOD_RES 172 172 Phosphoserine.
FT MOD_RES 175 175 Phosphothreonine.
FT MOD_RES 177 177 Phosphothreonine.
FT MOD_RES 223 223 Phosphoserine.
FT MOD_RES 258 258 Phosphoserine.
FT MOD_RES 303 303 Phosphoserine.
FT MOD_RES 345 345 Phosphoserine.
FT MOD_RES 398 398 Phosphoserine.
FT MOD_RES 480 480 Phosphoserine.
SQ SEQUENCE 547 AA; 58024 MW; 51B6AF7788E8800D CRC64;
MSTASSSSSS SSSQTPHPPS QRMRRSAAGS PPAVAAAGSG NGAGGGGGVG CAPAAGAGRL
LQPIRATVPY QLLRGSQHSP TRPPVAAAAA SLGSLPGPGA ARGPSPSSPT PPAAAAPAEQ
APRAKGRPRR SPESHRRSSS PERRSPGSPV CRADKAKSQQ VRTSSTIRRT SSLDTITGPY
LTGQWPRDPH VHYPSCMKDK ATQTPSCWAE EGAEKRSHQR SASWGSADQL KEQIAKLRQQ
LQRSKQSSRH SKEKDRQSPL HGNHITISHT QATGSRSVPM PLSNISVPKS SVSRVPCNVE
GISPELEKVF IKENNGKEEV SKPLDIPDGR RAPLPAHYRS SSTRSIDTQT PSVQERSSSC
SSHSPCVSPF CPPESQDGSP CSTEDLLYDR DKDSGSSSPL PKYASSPKPN NSYMFKREPP
EGCERVKVFE EMASRQPISA PLFSCPDKNK VNFIPTGSAF CPVKLLGPLL PASDLMLKNS
PNSGQSSALA TLTVEQLSSR VSFTSLSDDT STAGSMEASV QQPSQQQQLL QELQGEDHIS
AQNYVII
//
ID GLCI1_HUMAN Reviewed; 547 AA.
AC Q86VQ1; A4D103; Q96FD0;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-JUN-2003, sequence version 1.
DT 22-JAN-2014, entry version 75.
DE RecName: Full=Glucocorticoid-induced transcript 1 protein;
GN Name=GLCCI1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S.,
RA Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z.,
RA Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C.,
RA Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J.,
RA Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F.,
RA Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F.,
RA Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H.,
RA Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G.,
RA Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P.,
RA Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J.,
RA Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F.,
RA Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B.,
RA Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W.,
RA Mural R.J., Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cervix, and Testis;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP TISSUE SPECIFICITY.
RX PubMed=12557054; DOI=10.1007/s00251-002-0513-1;
RA Miazek A., Malissen B.;
RT "Two genes, three messengers: hybrid transcript between a gene
RT expressed at specific stages of T-cell and sperm maturation and an
RT unrelated adjacent gene.";
RL Immunogenetics 54:681-692(2003).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P.,
RA Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in
RT signaling networks.";
RL Cell 127:635-648(2006).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18220336; DOI=10.1021/pr0705441;
RA Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D.,
RA Yates J.R. III;
RT "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for
RT efficient phosphoproteomic analysis.";
RL J. Proteome Res. 7:1346-1351(2008).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-303 AND SER-345, AND
RP MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of
RT the kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-105; SER-108; SER-172;
RP THR-175 AND SER-345, AND MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-177, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [11]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-223; SER-258; SER-398
RP AND SER-480, AND MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [12]
RP INVOLVEMENT IN ASTHMA RESPONSE TO GLUCOCORTICOID TREATMENT, AND TISSUE
RP SPECIFICITY.
RX PubMed=21991891; DOI=10.1056/NEJMoa0911353;
RA Tantisira K.G., Lasky-Su J., Harada M., Murphy A., Litonjua A.A.,
RA Himes B.E., Lange C., Lazarus R., Sylvia J., Klanderman B., Duan Q.L.,
RA Qiu W., Hirota T., Martinez F.D., Mauger D., Sorkness C., Szefler S.,
RA Lazarus S.C., Lemanske R.F. Jr., Peters S.P., Lima J.J., Nakamura Y.,
RA Tamari M., Weiss S.T.;
RT "Genomewide association between GLCCI1 and response to glucocorticoid
RT therapy in asthma.";
RL N. Engl. J. Med. 365:1173-1183(2011).
RN [13]
RP INVOLVEMENT IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE RESPONSE TO
RP GLUCOCORTICOID TREATMENT.
RX PubMed=22187997; DOI=10.1056/NEJMc1112547#SA2;
RA Van den Berge M., Hiemstra P.S., Postma D.S.;
RT "Genetics of glucocorticoids in asthma.";
RL N. Engl. J. Med. 365:2434-2435(2011).
RN [14]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-223; SER-258 AND
RP SER-398, AND MASS SPECTROMETRY.
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
RA Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
RA Blagoev B.;
RT "System-wide temporal characterization of the proteome and
RT phosphoproteome of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
CC -!- TISSUE SPECIFICITY: Predominantly expressed in lung, spleen,
CC thymus and testis and, at lower levels, in brain, bone marrow,
CC peripheral leukocytes, skin and trachea.
CC -!- POLYMORPHISM: Polymorphisms dbSNP:rs37972 and dbSNP:rs37973,
CC located in GLCCI1 promoter region, are associated with a decreased
CC response to glucorticoid treatment [MIM:614400] in asthma patients
CC (PubMed:21991891), as well as in chronic obstructive pulmonary
CC disease patients (PubMed:22187997). The mean increase in forced
CC expiratory volume in 1 second in glucorticoid treated subjects who
CC are homozygous for the mutant (G) rs37973 allele is only about
CC one-third of that seen in similarly treated subjects who are
CC homozygous for the wild-type allele (A) (PubMed:21991891). These
CC polymorphisms affect GLCCI1 transcription level.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; CH236948; EAL24302.1; -; Genomic_DNA.
DR EMBL; CH471073; EAW93607.1; -; Genomic_DNA.
DR EMBL; BC011254; AAH11254.1; -; mRNA.
DR EMBL; BC050291; AAH50291.1; -; mRNA.
DR RefSeq; NP_612435.1; NM_138426.3.
DR UniGene; Hs.131673; -.
DR ProteinModelPortal; Q86VQ1; -.
DR IntAct; Q86VQ1; 3.
DR PhosphoSite; Q86VQ1; -.
DR DMDM; 74727602; -.
DR PaxDb; Q86VQ1; -.
DR PRIDE; Q86VQ1; -.
DR Ensembl; ENST00000223145; ENSP00000223145; ENSG00000106415.
DR GeneID; 113263; -.
DR KEGG; hsa:113263; -.
DR UCSC; uc003srk.4; human.
DR CTD; 113263; -.
DR GeneCards; GC07P007974; -.
DR HGNC; HGNC:18713; GLCCI1.
DR HPA; HPA001674; -.
DR HPA; HPA005987; -.
DR MIM; 614283; gene.
DR MIM; 614400; phenotype.
DR neXtProt; NX_Q86VQ1; -.
DR PharmGKB; PA38657; -.
DR eggNOG; NOG73383; -.
DR HOGENOM; HOG000252927; -.
DR HOVERGEN; HBG079782; -.
DR InParanoid; Q86VQ1; -.
DR OMA; DPHVHYP; -.
DR OrthoDB; EOG74XS6S; -.
DR PhylomeDB; Q86VQ1; -.
DR ChiTaRS; GLCCI1; human.
DR GeneWiki; GLCCI1; -.
DR GenomeRNAi; 113263; -.
DR NextBio; 78816; -.
DR PRO; PR:Q86VQ1; -.
DR ArrayExpress; Q86VQ1; -.
DR Bgee; Q86VQ1; -.
DR CleanEx; HS_GLCCI1; -.
DR Genevestigator; Q86VQ1; -.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR InterPro; IPR026639; Glcci1.
DR InterPro; IPR026642; Glcci1/FAM117.
DR PANTHER; PTHR14972; PTHR14972; 1.
DR PANTHER; PTHR14972:SF3; PTHR14972:SF3; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Complete proteome; Phosphoprotein; Reference proteome.
FT CHAIN 1 547 Glucocorticoid-induced transcript 1
FT protein.
FT /FTId=PRO_0000256128.
FT COILED 225 254 Potential.
FT COMPBIAS 5 13 Poly-Ser.
FT COMPBIAS 38 50 Poly-Gly.
FT COMPBIAS 86 90 Poly-Ala.
FT COMPBIAS 113 118 Poly-Ala.
FT COMPBIAS 525 528 Poly-Gln.
FT MOD_RES 105 105 Phosphoserine.
FT MOD_RES 108 108 Phosphoserine.
FT MOD_RES 172 172 Phosphoserine.
FT MOD_RES 175 175 Phosphothreonine.
FT MOD_RES 177 177 Phosphothreonine.
FT MOD_RES 223 223 Phosphoserine.
FT MOD_RES 258 258 Phosphoserine.
FT MOD_RES 303 303 Phosphoserine.
FT MOD_RES 345 345 Phosphoserine.
FT MOD_RES 398 398 Phosphoserine.
FT MOD_RES 480 480 Phosphoserine.
SQ SEQUENCE 547 AA; 58024 MW; 51B6AF7788E8800D CRC64;
MSTASSSSSS SSSQTPHPPS QRMRRSAAGS PPAVAAAGSG NGAGGGGGVG CAPAAGAGRL
LQPIRATVPY QLLRGSQHSP TRPPVAAAAA SLGSLPGPGA ARGPSPSSPT PPAAAAPAEQ
APRAKGRPRR SPESHRRSSS PERRSPGSPV CRADKAKSQQ VRTSSTIRRT SSLDTITGPY
LTGQWPRDPH VHYPSCMKDK ATQTPSCWAE EGAEKRSHQR SASWGSADQL KEQIAKLRQQ
LQRSKQSSRH SKEKDRQSPL HGNHITISHT QATGSRSVPM PLSNISVPKS SVSRVPCNVE
GISPELEKVF IKENNGKEEV SKPLDIPDGR RAPLPAHYRS SSTRSIDTQT PSVQERSSSC
SSHSPCVSPF CPPESQDGSP CSTEDLLYDR DKDSGSSSPL PKYASSPKPN NSYMFKREPP
EGCERVKVFE EMASRQPISA PLFSCPDKNK VNFIPTGSAF CPVKLLGPLL PASDLMLKNS
PNSGQSSALA TLTVEQLSSR VSFTSLSDDT STAGSMEASV QQPSQQQQLL QELQGEDHIS
AQNYVII
//
MIM
614283
*RECORD*
*FIELD* NO
614283
*FIELD* TI
*614283 GLUCOCORTICOID-INDUCED TRANSCRIPT 1; GLCCI1
;;THYMOCYTE/SPERMATOCYTE SELECTION 1; TSSN1
read more*FIELD* TX
CLONING
Miazek and Malissen (2003) cloned mouse Glcci1, and by database
analysis, they identified human GLCCI1. The deduced mouse and human
proteins contain 537 and 546 amino acids, respectively, and they share
94% identity.
MAPPING
By genomic sequence analysis, Miazek and Malissen (2003) mapped the
GLCCI1 gene to chromosome 7p22. They mapped the mouse Glcci1 gene to a
syntenic region of chromosome 6A1-A2 by FISH.
MOLECULAR GENETICS
- Glucocorticoid Therapy Response
For a discussion of glucocorticoid response in asthma regulated by
variation in the GLCCI1 gene, see 614400.
*FIELD* AV
.0001
GLUCOCORTICOID THERAPY, RESPONSE TO
GLCCI1, -1106A-G (dbSNP rs37973)
In a genomewide association study to discover novel pharmacogenetic
determinants of the response to inhaled glucocorticoids among asthma
patients, Tantisira et al. (2011) identified a functional SNP in the
GLCCI1 gene, dbSNP rs37973, which was in complete linkage disequilibrium
with another SNP, dbSNP rs37972, associated with decreased response to
glucocorticoid therapy (GCTR; 614400). The SNP dbSNP rs37973
significantly decreased GLCCI1 expression in a luciferase reporter
assay. The mean increase in forced expiratory volume in 1 second in the
treated subjects who were homozygous for the mutant (G) dbSNP rs37973
allele was only about one-third of that seen in similarly treated
subjects who were homozygous for the wildtype allele (A) (3.2 +/- 1.6%
vs 9.4 +/- 1.1%), and their risk of a poor response was significantly
higher (odds ratio, 2.36; 95% confidence interval, 1.27 to 4.41), with
genotype accounting for about 6.6% of overall inhaled glucocorticoid
response variability.
*FIELD* RF
1. Miazek, A.; Malissen, B.: Two genes, three messengers: hybrid
transcript between a gene expressed at specific stages of T-cell and
sperm maturation and an unrelated adjacent gene. Immunogenetics 54:
681-692, 2003.
2. Tantisira, K. G.; Lasky-Su, J.; Harada, M.; Murphy, A.; Litonjua,
A. A.; Himes, B. E.; Lange, C.; Lazarus, R.; Sylvia, J.; Klanderman,
B.; Duan, Q. L.; Qiu, W.; and 12 others: Genomewide association
between GLCCI1 and response to glucocorticoid therapy in asthma. New
Eng. J. Med. 365: 1173-1183, 2011.
*FIELD* CN
Ada Hamosh - updated: 12/15/2011
*FIELD* CD
Patricia A. Hartz: 10/6/2011
*FIELD* ED
alopez: 12/20/2011
terry: 12/15/2011
mgross: 10/6/2011
*RECORD*
*FIELD* NO
614283
*FIELD* TI
*614283 GLUCOCORTICOID-INDUCED TRANSCRIPT 1; GLCCI1
;;THYMOCYTE/SPERMATOCYTE SELECTION 1; TSSN1
read more*FIELD* TX
CLONING
Miazek and Malissen (2003) cloned mouse Glcci1, and by database
analysis, they identified human GLCCI1. The deduced mouse and human
proteins contain 537 and 546 amino acids, respectively, and they share
94% identity.
MAPPING
By genomic sequence analysis, Miazek and Malissen (2003) mapped the
GLCCI1 gene to chromosome 7p22. They mapped the mouse Glcci1 gene to a
syntenic region of chromosome 6A1-A2 by FISH.
MOLECULAR GENETICS
- Glucocorticoid Therapy Response
For a discussion of glucocorticoid response in asthma regulated by
variation in the GLCCI1 gene, see 614400.
*FIELD* AV
.0001
GLUCOCORTICOID THERAPY, RESPONSE TO
GLCCI1, -1106A-G (dbSNP rs37973)
In a genomewide association study to discover novel pharmacogenetic
determinants of the response to inhaled glucocorticoids among asthma
patients, Tantisira et al. (2011) identified a functional SNP in the
GLCCI1 gene, dbSNP rs37973, which was in complete linkage disequilibrium
with another SNP, dbSNP rs37972, associated with decreased response to
glucocorticoid therapy (GCTR; 614400). The SNP dbSNP rs37973
significantly decreased GLCCI1 expression in a luciferase reporter
assay. The mean increase in forced expiratory volume in 1 second in the
treated subjects who were homozygous for the mutant (G) dbSNP rs37973
allele was only about one-third of that seen in similarly treated
subjects who were homozygous for the wildtype allele (A) (3.2 +/- 1.6%
vs 9.4 +/- 1.1%), and their risk of a poor response was significantly
higher (odds ratio, 2.36; 95% confidence interval, 1.27 to 4.41), with
genotype accounting for about 6.6% of overall inhaled glucocorticoid
response variability.
*FIELD* RF
1. Miazek, A.; Malissen, B.: Two genes, three messengers: hybrid
transcript between a gene expressed at specific stages of T-cell and
sperm maturation and an unrelated adjacent gene. Immunogenetics 54:
681-692, 2003.
2. Tantisira, K. G.; Lasky-Su, J.; Harada, M.; Murphy, A.; Litonjua,
A. A.; Himes, B. E.; Lange, C.; Lazarus, R.; Sylvia, J.; Klanderman,
B.; Duan, Q. L.; Qiu, W.; and 12 others: Genomewide association
between GLCCI1 and response to glucocorticoid therapy in asthma. New
Eng. J. Med. 365: 1173-1183, 2011.
*FIELD* CN
Ada Hamosh - updated: 12/15/2011
*FIELD* CD
Patricia A. Hartz: 10/6/2011
*FIELD* ED
alopez: 12/20/2011
terry: 12/15/2011
mgross: 10/6/2011
MIM
614400
*RECORD*
*FIELD* NO
614400
*FIELD* TI
#614400 GLUCOCORTICOID THERAPY, RESPONSE TO; GCTR
*FIELD* TX
A number sign (#) is used with this entry because a decreased response
read moreto inhaled glucocorticoids was noted in asthmatic patients with a
functional polymorphism affecting expression of the GLCCI1 gene
(614283).
MOLECULAR GENETICS
Tantisira et al. (2011) analyzed a small number of statistically
powerful variants selected on the basis of a family-based screening
algorithm greater than 500,000 SNPs to determine changes in lung
function in response to inhaled glucocorticoids. Tantisira et al. (2011)
identified a significant pharmacogenetic association at SNP dbSNP
rs37972, replicated in 4 independent populations totaling 935 persons (P
= 0.0007), which maps to the glucocorticoid-induced transcript-1 gene
(GLCCI1; 614283) and is in complete linkage disequilibrium with dbSNP
rs37973. Both dbSNP rs37972 and dbSNP rs37973 are associated with
decrements in GLCCI1 expression. In isolated cell systems, the dbSNP
rs37973 variant was associated with significantly decreased luciferase
reporter activity. Pooled data from treatment trials indicated reduced
lung function in response to inhaled glucocorticoids in subjects with
the variant allele (P = 0.0007 for pooled data). Overall, the mean
increase in forced expiratory volume in 1 second in the treated subjects
who were homozygous for the mutant dbSNP rs37973 allele was only about
one-third of that seen in similarly treated subjects who were homozygous
for the wildtype allele (3.2 +/- 1.6% vs 9.4 +/- 1.1%), and their risk
of a poor response was significantly higher (odds ratio, 2.36; 95%
confidence interval, 1.27 to 4.41), with genotype accounting for about
6.6% of overall inhaled glucocorticoid response variability.
*FIELD* RF
1. Tantisira, K. G.; Lasky-Su, J.; Harada, M.; Murphy, A.; Litonjua,
A. A.; Himes, B. E.; Lange, C.; Lazarus, R.; Sylvia, J.; Klanderman,
B.; Duan, Q. L.; Qiu, W.; and 12 others: Genomewide association
between GLCCI1 and response to glucocorticoid therapy in asthma. New
Eng. J. Med. 365: 1173-1183, 2011.
*FIELD* CD
Ada Hamosh: 12/19/2011
*FIELD* ED
alopez: 12/20/2011
alopez: 12/19/2011
*RECORD*
*FIELD* NO
614400
*FIELD* TI
#614400 GLUCOCORTICOID THERAPY, RESPONSE TO; GCTR
*FIELD* TX
A number sign (#) is used with this entry because a decreased response
read moreto inhaled glucocorticoids was noted in asthmatic patients with a
functional polymorphism affecting expression of the GLCCI1 gene
(614283).
MOLECULAR GENETICS
Tantisira et al. (2011) analyzed a small number of statistically
powerful variants selected on the basis of a family-based screening
algorithm greater than 500,000 SNPs to determine changes in lung
function in response to inhaled glucocorticoids. Tantisira et al. (2011)
identified a significant pharmacogenetic association at SNP dbSNP
rs37972, replicated in 4 independent populations totaling 935 persons (P
= 0.0007), which maps to the glucocorticoid-induced transcript-1 gene
(GLCCI1; 614283) and is in complete linkage disequilibrium with dbSNP
rs37973. Both dbSNP rs37972 and dbSNP rs37973 are associated with
decrements in GLCCI1 expression. In isolated cell systems, the dbSNP
rs37973 variant was associated with significantly decreased luciferase
reporter activity. Pooled data from treatment trials indicated reduced
lung function in response to inhaled glucocorticoids in subjects with
the variant allele (P = 0.0007 for pooled data). Overall, the mean
increase in forced expiratory volume in 1 second in the treated subjects
who were homozygous for the mutant dbSNP rs37973 allele was only about
one-third of that seen in similarly treated subjects who were homozygous
for the wildtype allele (3.2 +/- 1.6% vs 9.4 +/- 1.1%), and their risk
of a poor response was significantly higher (odds ratio, 2.36; 95%
confidence interval, 1.27 to 4.41), with genotype accounting for about
6.6% of overall inhaled glucocorticoid response variability.
*FIELD* RF
1. Tantisira, K. G.; Lasky-Su, J.; Harada, M.; Murphy, A.; Litonjua,
A. A.; Himes, B. E.; Lange, C.; Lazarus, R.; Sylvia, J.; Klanderman,
B.; Duan, Q. L.; Qiu, W.; and 12 others: Genomewide association
between GLCCI1 and response to glucocorticoid therapy in asthma. New
Eng. J. Med. 365: 1173-1183, 2011.
*FIELD* CD
Ada Hamosh: 12/19/2011
*FIELD* ED
alopez: 12/20/2011
alopez: 12/19/2011