GNB1L_HUMAN
ID GNB1L_HUMAN Reviewed; 327 AA.
AC Q9BYB4; Q9H2S2; Q9H4M4;
DT 13-DEC-2002, integrated into UniProtKB/Swiss-Prot.
DT 13-DEC-2002, sequence version 2.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Guanine nucleotide-binding protein subunit beta-like protein 1;
DE Short=G protein subunit beta-like protein 1;
DE AltName: Full=DGCRK3;
DE AltName: Full=WD repeat-containing protein 14;
DE AltName: Full=WD40 repeat-containing protein deleted in VCFS;
DE Short=WDVCF;
GN Name=GNB1L; Synonyms=GY2, KIAA1645, WDR14; ORFNames=FKSG1;
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] (ISOFORMS 1 AND 2).
RX PubMed=11072084; DOI=10.1016/s0167-4781(00)00189-5;
RA Gong L., Liu M., Jen J., Yeh E.T.H.;
RT "GNB1L, a gene deleted in the critical region for DiGeorge syndrome on
RT 22q11, encodes a G-protein beta-subunit-like polypeptide.";
RL Biochim. Biophys. Acta 1494:185-188(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=11350118; DOI=10.1006/geno.2000.6506;
RA Funke B., Pandita R.K., Morrow B.E.;
RT "Isolation and characterization of a novel gene containing WD40 repeats
RT from the region deleted in velo-cardio-facial/DiGeorge syndrome on
RT chromosome 22q11.";
RL Genomics 73:264-271(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Wang Y.-G.;
RT "Molecular cloning of FKSG1, a novel gene deleted in DiGeorge syndrome.";
RL Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Shimizu N., Minosima S., Kawasaki K., Sasaki T.;
RT "Molecular cloning of DGCRK3.";
RL Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=11258795; DOI=10.1093/dnares/8.1.1;
RA Hirosawa M., Nagase T., Murahashi Y., Kikuno R., Ohara O.;
RT "Identification of novel transcribed sequences on human chromosome 22 by
RT expressed sequence tag mapping.";
RL DNA Res. 8:1-9(2001).
RN [6]
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 [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 MRNA] (ISOFORM 1).
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 [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP VARIANT [LARGE SCALE ANALYSIS] THR-296.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BYB4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BYB4-2; Sequence=VSP_006767, VSP_006768;
CC -!- TISSUE SPECIFICITY: Ubiquitous. Highly expressed in heart, liver,
CC skeletal muscle, kidney, spleen, thymus and pancreas. Detected at low
CC levels in lung, placenta and brain.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB33315.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF238328; AAG36826.1; -; mRNA.
DR EMBL; AF301895; AAG53933.1; -; mRNA.
DR EMBL; AY007378; AAG12162.1; -; mRNA.
DR EMBL; AB049212; BAB68408.1; -; Genomic_DNA.
DR EMBL; AB051432; BAB33315.1; ALT_INIT; mRNA.
DR EMBL; CR456496; CAG30382.1; -; mRNA.
DR EMBL; BC012060; AAH12060.1; -; mRNA.
DR CCDS; CCDS13768.1; -. [Q9BYB4-1]
DR RefSeq; NP_443730.1; NM_053004.2. [Q9BYB4-1]
DR AlphaFoldDB; Q9BYB4; -.
DR SMR; Q9BYB4; -.
DR BioGRID; 120061; 48.
DR IntAct; Q9BYB4; 15.
DR MINT; Q9BYB4; -.
DR STRING; 9606.ENSP00000331313; -.
DR GlyGen; Q9BYB4; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9BYB4; -.
DR PhosphoSitePlus; Q9BYB4; -.
DR BioMuta; GNB1L; -.
DR DMDM; 27151507; -.
DR EPD; Q9BYB4; -.
DR jPOST; Q9BYB4; -.
DR MassIVE; Q9BYB4; -.
DR MaxQB; Q9BYB4; -.
DR PaxDb; Q9BYB4; -.
DR PeptideAtlas; Q9BYB4; -.
DR PRIDE; Q9BYB4; -.
DR ProteomicsDB; 79608; -. [Q9BYB4-1]
DR ProteomicsDB; 79609; -. [Q9BYB4-2]
DR Antibodypedia; 7752; 111 antibodies from 21 providers.
DR DNASU; 54584; -.
DR Ensembl; ENST00000329517.11; ENSP00000331313.6; ENSG00000185838.14. [Q9BYB4-1]
DR Ensembl; ENST00000403325.5; ENSP00000385154.1; ENSG00000185838.14. [Q9BYB4-1]
DR Ensembl; ENST00000405009.5; ENSP00000384626.1; ENSG00000185838.14. [Q9BYB4-2]
DR GeneID; 54584; -.
DR KEGG; hsa:54584; -.
DR MANE-Select; ENST00000329517.11; ENSP00000331313.6; NM_053004.3; NP_443730.1.
DR UCSC; uc002zqf.2; human. [Q9BYB4-1]
DR CTD; 54584; -.
DR DisGeNET; 54584; -.
DR GeneCards; GNB1L; -.
DR HGNC; HGNC:4397; GNB1L.
DR HPA; ENSG00000185838; Low tissue specificity.
DR MIM; 610778; gene.
DR neXtProt; NX_Q9BYB4; -.
DR OpenTargets; ENSG00000185838; -.
DR PharmGKB; PA28777; -.
DR VEuPathDB; HostDB:ENSG00000185838; -.
DR eggNOG; KOG0322; Eukaryota.
DR GeneTree; ENSGT00390000018606; -.
DR HOGENOM; CLU_041940_2_1_1; -.
DR InParanoid; Q9BYB4; -.
DR OMA; NSLCFQE; -.
DR OrthoDB; 1543596at2759; -.
DR PhylomeDB; Q9BYB4; -.
DR TreeFam; TF344050; -.
DR PathwayCommons; Q9BYB4; -.
DR SignaLink; Q9BYB4; -.
DR BioGRID-ORCS; 54584; 567 hits in 1087 CRISPR screens.
DR ChiTaRS; GNB1L; human.
DR GeneWiki; GNB1L; -.
DR GenomeRNAi; 54584; -.
DR Pharos; Q9BYB4; Tbio.
DR PRO; PR:Q9BYB4; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q9BYB4; protein.
DR Bgee; ENSG00000185838; Expressed in stromal cell of endometrium and 100 other tissues.
DR ExpressionAtlas; Q9BYB4; baseline and differential.
DR Genevisible; Q9BYB4; HS.
DR Gene3D; 2.130.10.10; -; 2.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF00400; WD40; 1.
DR SMART; SM00320; WD40; 6.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 1.
DR PROSITE; PS50294; WD_REPEATS_REGION; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..327
FT /note="Guanine nucleotide-binding protein subunit beta-like
FT protein 1"
FT /id="PRO_0000051008"
FT REPEAT 16..54
FT /note="WD 1"
FT REPEAT 58..97
FT /note="WD 2"
FT REPEAT 103..145
FT /note="WD 3"
FT REPEAT 153..195
FT /note="WD 4"
FT REPEAT 200..237
FT /note="WD 5"
FT REPEAT 242..282
FT /note="WD 6"
FT REPEAT 286..323
FT /note="WD 7"
FT VAR_SEQ 211..212
FT /note="VM -> GL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11072084"
FT /id="VSP_006767"
FT VAR_SEQ 213..327
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11072084"
FT /id="VSP_006768"
FT VARIANT 30
FT /note="E -> K (in dbSNP:rs35178436)"
FT /id="VAR_053394"
FT VARIANT 37
FT /note="R -> H (in dbSNP:rs5748449)"
FT /id="VAR_053395"
FT VARIANT 239
FT /note="W -> G (in dbSNP:rs2073770)"
FT /id="VAR_024698"
FT VARIANT 296
FT /note="A -> T (in a breast cancer sample; somatic mutation;
FT dbSNP:rs61758989)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035882"
SQ SEQUENCE 327 AA; 35618 MW; 1A2FEAE50AF57A60 CRC64;
MTAPCPPPPP DPQFVLRGTQ SPVHALHFCE GAQAQGRPLL FSGSQSGLVH IWSLQTRRAV
TTLDGHGGQC VTWLQTLPQG RQLLSQGRDL KLCLWDLAEG RSAVVDSVCL ESVGFCRSSI
LAGGQPRWTL AVPGRGSDEV QILEMPSKTS VCALKPKADA KLGMPMCLRL WQADCSSRPL
LLAGYEDGSV VLWDVSEQKV CSRIACHEEP VMDLDFDSQK ARGISGSAGK ALAVWSLDWQ
QALQVRGTHE LTNPGIAEVT IRPDRKILAT AGWDHRIRVF HWRTMQPLAV LAFHSAAVQC
VAFTADGLLA AGSKDQRISL WSLYPRA
