DGC6L_HUMAN
ID DGC6L_HUMAN Reviewed; 220 AA.
AC Q9BY27; A8K1N7; B3KMC0; D3DX29; Q9BW33;
DT 26-JUL-2002, integrated into UniProtKB/Swiss-Prot.
DT 26-JUL-2002, sequence version 2.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Protein DGCR6L;
DE AltName: Full=DiGeorge syndrome critical region 6-like protein;
GN Name=DGCR6L;
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], AND TISSUE 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], TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND
RP 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 [LARGE SCALE MRNA].
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Hippocampus;
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 [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon;
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 Q9BY27; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-742953, EBI-10173507;
CC Q9BY27; Q86V38: ATN1; NbExp=3; IntAct=EBI-742953, EBI-11954292;
CC Q9BY27; Q5T686: AVPI1; NbExp=3; IntAct=EBI-742953, EBI-8640233;
CC Q9BY27; Q8IZR5-2: CMTM4; NbExp=3; IntAct=EBI-742953, EBI-17278014;
CC Q9BY27; Q05D60: DEUP1; NbExp=9; IntAct=EBI-742953, EBI-748597;
CC Q9BY27; P15976-2: GATA1; NbExp=3; IntAct=EBI-742953, EBI-9090198;
CC Q9BY27; Q9UJY5-4: GGA1; NbExp=3; IntAct=EBI-742953, EBI-12108696;
CC Q9BY27; Q9NP66: HMG20A; NbExp=3; IntAct=EBI-742953, EBI-740641;
CC Q9BY27; Q9NRY2: INIP; NbExp=6; IntAct=EBI-742953, EBI-2881520;
CC Q9BY27; Q15323: KRT31; NbExp=3; IntAct=EBI-742953, EBI-948001;
CC Q9BY27; O43679: LDB2; NbExp=3; IntAct=EBI-742953, EBI-2865580;
CC Q9BY27; Q96II8-3: LRCH3; NbExp=3; IntAct=EBI-742953, EBI-17658306;
CC Q9BY27; Q9BRK4: LZTS2; NbExp=3; IntAct=EBI-742953, EBI-741037;
CC Q9BY27; Q9UJV3-2: MID2; NbExp=6; IntAct=EBI-742953, EBI-10172526;
CC Q9BY27; Q15742: NAB2; NbExp=3; IntAct=EBI-742953, EBI-8641936;
CC Q9BY27; Q7Z6G3-2: NECAB2; NbExp=3; IntAct=EBI-742953, EBI-10172876;
CC Q9BY27; Q16633: POU2AF1; NbExp=3; IntAct=EBI-742953, EBI-943588;
CC Q9BY27; Q96KQ4: PPP1R13B; NbExp=3; IntAct=EBI-742953, EBI-1105153;
CC Q9BY27; Q9UFD9: RIMBP3; NbExp=3; IntAct=EBI-742953, EBI-10182375;
CC Q9BY27; P02549: SPTA1; NbExp=3; IntAct=EBI-742953, EBI-375617;
CC Q9BY27; Q6ZNG0: ZNF620; NbExp=3; IntAct=EBI-742953, EBI-4395669;
CC Q9BY27; P14079: tax; Xeno; NbExp=3; IntAct=EBI-742953, EBI-9675698;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15821931}.
CC Note=Predominantly nuclear.
CC -!- TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues.
CC Highest 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 -!- SIMILARITY: Belongs to the gonadal family. {ECO:0000305}.
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DR EMBL; AF228708; AAK15585.1; -; mRNA.
DR EMBL; CR456361; CAG30247.1; -; mRNA.
DR EMBL; AK001528; BAG50932.1; -; mRNA.
DR EMBL; AK289952; BAF82641.1; -; mRNA.
DR EMBL; CH471176; EAX02973.1; -; Genomic_DNA.
DR EMBL; CH471176; EAX02974.1; -; Genomic_DNA.
DR EMBL; BC000682; AAH00682.1; -; mRNA.
DR CCDS; CCDS13778.1; -.
DR RefSeq; NP_150282.2; NM_033257.3.
DR AlphaFoldDB; Q9BY27; -.
DR SMR; Q9BY27; -.
DR BioGRID; 124488; 30.
DR IntAct; Q9BY27; 29.
DR MINT; Q9BY27; -.
DR STRING; 9606.ENSP00000248879; -.
DR GlyGen; Q9BY27; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9BY27; -.
DR PhosphoSitePlus; Q9BY27; -.
DR BioMuta; DGCR6L; -.
DR DMDM; 22001579; -.
DR EPD; Q9BY27; -.
DR MassIVE; Q9BY27; -.
DR MaxQB; Q9BY27; -.
DR PaxDb; Q9BY27; -.
DR PeptideAtlas; Q9BY27; -.
DR PRIDE; Q9BY27; -.
DR ProteomicsDB; 79570; -.
DR Antibodypedia; 23165; 154 antibodies from 20 providers.
DR DNASU; 85359; -.
DR Ensembl; ENST00000248879.8; ENSP00000248879.2; ENSG00000128185.10.
DR GeneID; 85359; -.
DR KEGG; hsa:85359; -.
DR MANE-Select; ENST00000248879.8; ENSP00000248879.2; NM_033257.4; NP_150282.2.
DR UCSC; uc002zrx.4; human.
DR CTD; 85359; -.
DR DisGeNET; 85359; -.
DR GeneCards; DGCR6L; -.
DR HGNC; HGNC:18551; DGCR6L.
DR HPA; ENSG00000128185; Low tissue specificity.
DR MIM; 609459; gene.
DR neXtProt; NX_Q9BY27; -.
DR OpenTargets; ENSG00000128185; -.
DR PharmGKB; PA38570; -.
DR VEuPathDB; HostDB:ENSG00000128185; -.
DR eggNOG; KOG4810; Eukaryota.
DR GeneTree; ENSGT00390000017663; -.
DR HOGENOM; CLU_096921_1_1_1; -.
DR InParanoid; Q9BY27; -.
DR OMA; HESPTID; -.
DR OrthoDB; 1397196at2759; -.
DR PhylomeDB; Q9BY27; -.
DR TreeFam; TF324608; -.
DR PathwayCommons; Q9BY27; -.
DR SignaLink; Q9BY27; -.
DR BioGRID-ORCS; 85359; 28 hits in 1004 CRISPR screens.
DR ChiTaRS; DGCR6L; human.
DR GenomeRNAi; 85359; -.
DR Pharos; Q9BY27; Tbio.
DR PRO; PR:Q9BY27; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q9BY27; protein.
DR Bgee; ENSG00000128185; Expressed in right testis and 97 other tissues.
DR ExpressionAtlas; Q9BY27; baseline and differential.
DR Genevisible; Q9BY27; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR InterPro; IPR010849; Gonadal.
DR PANTHER; PTHR13054; PTHR13054; 1.
DR Pfam; PF07324; DGCR6; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Nucleus; Phosphoprotein; Reference proteome.
FT CHAIN 1..220
FT /note="Protein DGCR6L"
FT /id="PRO_0000070260"
FT COILED 76..159
FT /evidence="ECO:0000255"
FT VARIANT 115
FT /note="V -> L (in dbSNP:rs1056818)"
FT /id="VAR_055870"
FT VARIANT 195
FT /note="N -> K (in dbSNP:rs1056804)"
FT /id="VAR_055871"
FT CONFLICT 14
FT /note="G -> S (in Ref. 1; AAK15585)"
FT /evidence="ECO:0000305"
FT CONFLICT 81
FT /note="Q -> R (in Ref. 4; BAG50932)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 220 AA; 24932 MW; 558F15EA4B95405B CRC64;
MERYAAALEE VADGARQQER HYQLLSALQS LVKELPSSFQ QRLSYTTLSD LALALLDGTV
FEIVQGLLEI QHLTEKSLYN QRLRLQNEHR VLRQALRQKH QEAQQACRPH NLPVVQAAQQ
RELEAVEHRI REEQRAMDQK IILELDRKVA DQQSTLEKAG VAGFYVTTNP QELMLQMNLL
ELIRKLQQRG CRAGNAALGL GGPWQSPAAQ CDQKGSPVPP
