DGCR6_HUMAN
ID DGCR6_HUMAN Reviewed; 220 AA.
AC Q14129; B2RCH5; D3DX15; G5E9J8; Q9BY28;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 26-JUL-2002, sequence version 3.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Protein DGCR6;
DE AltName: Full=DiGeorge syndrome critical region 6;
GN Name=DGCR6;
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 [GENOMIC DNA / MRNA] (ISOFORM 1), AND TISSUE
RP SPECIFICITY.
RC TISSUE=Fetal spleen;
RX PubMed=11157784; DOI=10.1101/gr.gr-1431r;
RA Edelmann L., Stankiewicz P., Spiteri E., Pandita R.K., Shaffer L.,
RA Lupski J., Morrow B.E.;
RT "Two functional copies of the DGCR6 gene are present on human chromosome
RT 22q11 due to a duplication of an ancestral locus.";
RL Genome Res. 11:208-217(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR
RP LOCATION, AND PHOSPHORYLATION.
RC TISSUE=Fetal brain;
RX PubMed=15821931; DOI=10.1007/s00439-005-1267-2;
RA Pfuhl T., Duerr M., Spurk A., Schwalbert B., Nord R., Mysliwietz J.,
RA Kremmer E., Graesser F.A.;
RT "Biochemical characterisation of the proteins encoded by the DiGeorge
RT critical region 6 (DGCR6) genes.";
RL Hum. Genet. 117:70-80(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=8733130; DOI=10.1093/hmg/5.5.633;
RA Demczuk S., Thomas G., Aurias A.;
RT "Isolation of a novel gene from the DiGeorge syndrome critical region with
RT homology to Drosophila gdl and to human LAMC1 genes.";
RL Hum. Mol. Genet. 5:633-638(1996).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Fetal brain;
RX PubMed=24722188; DOI=10.1038/ncomms4650;
RA Corominas R., Yang X., Lin G.N., Kang S., Shen Y., Ghamsari L., Broly M.,
RA Rodriguez M., Tam S., Wanamaker S.A., Fan C., Yi S., Tasan M., Lemmens I.,
RA Kuang X., Zhao N., Malhotra D., Michaelson J.J., Vacic V., Calderwood M.A.,
RA Roth F.P., Tavernier J., Horvath S., Salehi-Ashtiani K., Korkin D.,
RA Sebat J., Hill D.E., Hao T., Vidal M., Iakoucheva L.M.;
RT "Protein interaction network of alternatively spliced isoforms from brain
RT links genetic risk factors for autism.";
RL Nat. Commun. 5:3650-3650(2014).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [8]
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 [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Pancreas, and Spleen;
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).
CC -!- FUNCTION: May play a role in neural crest cell migration into the third
CC and fourth pharyngeal pouches.
CC -!- INTERACTION:
CC Q14129; Q9ULX6: AKAP8L; NbExp=3; IntAct=EBI-12206931, EBI-357530;
CC Q14129; Q96DF8: ESS2; NbExp=3; IntAct=EBI-12206931, EBI-3928124;
CC Q14129; P07954: FH; NbExp=3; IntAct=EBI-12206931, EBI-1050358;
CC Q14129; Q9NRY2: INIP; NbExp=5; IntAct=EBI-12206931, EBI-2881520;
CC Q14129; P59991: KRTAP12-2; NbExp=3; IntAct=EBI-12206931, EBI-10176379;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15821931}.
CC Note=Predominantly nuclear.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q14129-1; Sequence=Displayed;
CC Name=2; Synonyms=C;
CC IsoId=Q14129-2; Sequence=VSP_055898, VSP_055899;
CC -!- TISSUE SPECIFICITY: Found in all tissues examined with highest
CC expression in liver, heart and skeletal muscle. Lower levels in
CC pancreas and placenta. Weak expression in brain.
CC {ECO:0000269|PubMed:11157784, ECO:0000269|PubMed:15821931}.
CC -!- INDUCTION: Increased levels in several tumor cell lines, including lung
CC and colon adenocarcinomas and mammary carcinomas. Strongly induced in
CC Burkitt's lymphoma and lymphocytes transformed by EBV.
CC -!- SIMILARITY: Belongs to the gonadal family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAA65339.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF228707; AAK15584.1; -; mRNA.
DR EMBL; X96484; CAA65339.1; ALT_FRAME; mRNA.
DR EMBL; KJ535003; AHW56642.1; -; mRNA.
DR EMBL; CR456434; CAG30320.1; -; mRNA.
DR EMBL; AK315115; BAG37572.1; -; mRNA.
DR EMBL; AC007326; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471176; EAX03075.1; -; Genomic_DNA.
DR EMBL; CH471176; EAX03077.1; -; Genomic_DNA.
DR EMBL; BC047039; AAH47039.1; -; mRNA.
DR CCDS; CCDS13753.1; -. [Q14129-1]
DR RefSeq; NP_005666.2; NM_005675.4. [Q14129-1]
DR RefSeq; XP_006724997.1; XM_006724934.1.
DR AlphaFoldDB; Q14129; -.
DR SMR; Q14129; -.
DR BioGRID; 113850; 71.
DR IntAct; Q14129; 16.
DR STRING; 9606.ENSP00000331681; -.
DR GlyGen; Q14129; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q14129; -.
DR PhosphoSitePlus; Q14129; -.
DR BioMuta; DGCR6; -.
DR DMDM; 22002047; -.
DR MassIVE; Q14129; -.
DR MaxQB; Q14129; -.
DR PaxDb; Q14129; -.
DR PeptideAtlas; Q14129; -.
DR PRIDE; Q14129; -.
DR ProteomicsDB; 33959; -.
DR ProteomicsDB; 59830; -. [Q14129-1]
DR Antibodypedia; 22788; 90 antibodies from 15 providers.
DR DNASU; 8214; -.
DR Ensembl; ENST00000331444.12; ENSP00000331681.6; ENSG00000183628.14. [Q14129-1]
DR Ensembl; ENST00000427407.5; ENSP00000397633.2; ENSG00000183628.14. [Q14129-2]
DR GeneID; 8214; -.
DR KEGG; hsa:8214; -.
DR MANE-Select; ENST00000331444.12; ENSP00000331681.6; NM_005675.6; NP_005666.2.
DR UCSC; uc062bjm.1; human. [Q14129-1]
DR CTD; 8214; -.
DR DisGeNET; 8214; -.
DR GeneCards; DGCR6; -.
DR GeneReviews; DGCR6; -.
DR HGNC; HGNC:2846; DGCR6.
DR HPA; ENSG00000183628; Group enriched (heart muscle, skeletal muscle).
DR MalaCards; DGCR6; -.
DR MIM; 601279; gene.
DR neXtProt; NX_Q14129; -.
DR OpenTargets; ENSG00000183628; -.
DR PharmGKB; PA27308; -.
DR VEuPathDB; HostDB:ENSG00000183628; -.
DR eggNOG; KOG4810; Eukaryota.
DR GeneTree; ENSGT00390000017663; -.
DR HOGENOM; CLU_096921_1_1_1; -.
DR InParanoid; Q14129; -.
DR OMA; GHDINTE; -.
DR PhylomeDB; Q14129; -.
DR TreeFam; TF324608; -.
DR PathwayCommons; Q14129; -.
DR SignaLink; Q14129; -.
DR BioGRID-ORCS; 102724770; 0 hits in 4 CRISPR screens.
DR BioGRID-ORCS; 8214; 41 hits in 1005 CRISPR screens.
DR ChiTaRS; DGCR6; human.
DR GeneWiki; DGCR6; -.
DR Pharos; Q14129; Tbio.
DR PRO; PR:Q14129; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q14129; protein.
DR Bgee; ENSG00000183628; Expressed in skeletal muscle tissue and 97 other tissues.
DR ExpressionAtlas; Q14129; baseline and differential.
DR Genevisible; Q14129; HS.
DR GO; GO:0031012; C:extracellular matrix; TAS:ProtInc.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0009887; P:animal organ morphogenesis; TAS:ProtInc.
DR GO; GO:0007155; P:cell adhesion; TAS:ProtInc.
DR InterPro; IPR010849; Gonadal.
DR PANTHER; PTHR13054; PTHR13054; 1.
DR Pfam; PF07324; DGCR6; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Nucleus; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..220
FT /note="Protein DGCR6"
FT /id="PRO_0000070259"
FT COILED 76..142
FT /evidence="ECO:0000255"
FT VAR_SEQ 92..162
FT /note="LRQALRQKHQEAQQACRPHNLPVLQAAQQRELEAVEHRIREEQRAMDQKIVL
FT ELDRKVADQQSTLEKAGVA -> PRTFWNPLETCRDSGVGGWRRLASSPVQTPLWPGCS
FT AGLCSGRRCGRSTRKPSRPAGPITCLCFRRLSSEN (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:24722188"
FT /id="VSP_055898"
FT VAR_SEQ 163..220
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:24722188"
FT /id="VSP_055899"
FT VARIANT 117
FT /note="A -> V (in dbSNP:rs16983281)"
FT /id="VAR_033866"
FT CONFLICT 1..12
FT /note="MERYAGALEEVA -> PKGAKAGYQPRG (in Ref. 3)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 220 AA; 24989 MW; DF68DEAF5BF6B8BB CRC64;
MERYAGALEE VADGARQQER HYQLLSALQS LVKELPSSFQ QRLSYTTLSD LALALLDGTV
FEIVQGLLEI QHLTEKSLYN QRLRLQNEHR VLRQALRQKH QEAQQACRPH NLPVLQAAQQ
RELEAVEHRI REEQRAMDQK IVLELDRKVA DQQSTLEKAG VAGFYVTTNP QELMLQMNLL
ELIRKLQQRG CWAGKAALGL GGPWQLPAAQ CDQKGSPVPP
