CGB1_HUMAN
ID CGB1_HUMAN Reviewed; 187 AA.
AC A6NKQ9; A4FVC8; A8MUK6;
DT 01-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-JUL-2008, sequence version 3.
DT 03-AUG-2022, entry version 119.
DE RecName: Full=Choriogonadotropin subunit beta variant 1;
DE Flags: Precursor;
GN Name=CGB1;
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] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX PubMed=18048458; DOI=10.1093/molehr/gam082;
RA Rull K., Hallast P., Uuskula L., Jackson J., Punab M., Salumets A.,
RA Campbell R.K., Laan M.;
RT "Fine-scale quantification of HCG beta gene transcription in human
RT trophoblastic and non-malignant non-trophoblastic tissues.";
RL Mol. Hum. Reprod. 14:23-31(2008).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-183 (ISOFORM 2).
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 [5]
RP MISCELLANEOUS.
RX PubMed=11861891; DOI=10.1093/oxfordjournals.molbev.a004085;
RA Maston G.A., Ruvolo M.;
RT "Chorionic gonadotropin has a recent origin within primates and an
RT evolutionary history of selection.";
RL Mol. Biol. Evol. 19:320-335(2002).
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=16123088; DOI=10.1093/humrep/dei261;
RA Rull K., Laan M.;
RT "Expression of beta-subunit of HCG genes during normal and failed
RT pregnancy.";
RL Hum. Reprod. 20:3360-3368(2005).
CC -!- SUBCELLULAR LOCATION: Secreted.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=A6NKQ9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A6NKQ9-2; Sequence=VSP_034490, VSP_034491;
CC -!- TISSUE SPECIFICITY: Expressed in placenta, testis and pituitary.
CC {ECO:0000269|PubMed:16123088, ECO:0000269|PubMed:18048458}.
CC -!- MISCELLANEOUS: Encoded by a cluster of genes that have evolved by
CC duplication from LHB. HCG-beta is encoded by six non-allelic genes
CC (CGB) clustered on chromosome 19q13.3 and named CGB1, CGB2, CGB3, CGB5,
CC CGB7 and CGB8. Two specific hCGb proteins that differ by three amino
CC acids in positions 2,4 and 117 have been described: type 1 (CGB7) and
CC type 2 (CGB3, CGB5, CGB8). The CGB gene first arose in the common
CC ancestor of the anthropoid primates. {ECO:0000269|PubMed:11861891}.
CC -!- SIMILARITY: Belongs to the glycoprotein hormones subunit beta family.
CC {ECO:0000305}.
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DR EMBL; AC008687; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471177; EAW52436.1; -; Genomic_DNA.
DR EMBL; BC126460; AAI26461.1; -; mRNA.
DR CCDS; CCDS12751.2; -. [A6NKQ9-2]
DR RefSeq; NP_203695.2; NM_033377.1. [A6NKQ9-2]
DR AlphaFoldDB; A6NKQ9; -.
DR SMR; A6NKQ9; -.
DR BioGRID; 125315; 7.
DR IntAct; A6NKQ9; 1.
DR GlyGen; A6NKQ9; 3 sites, 1 O-linked glycan (1 site).
DR iPTMnet; A6NKQ9; -.
DR PhosphoSitePlus; A6NKQ9; -.
DR BioMuta; CGB1; -.
DR MassIVE; A6NKQ9; -.
DR MaxQB; A6NKQ9; -.
DR PRIDE; A6NKQ9; -.
DR Antibodypedia; 76915; 43 antibodies from 8 providers.
DR DNASU; 114335; -.
DR Ensembl; ENST00000301407.8; ENSP00000301407.6; ENSG00000267631.5. [A6NKQ9-2]
DR GeneID; 114335; -.
DR KEGG; hsa:114335; -.
DR MANE-Select; ENST00000301407.8; ENSP00000301407.6; NM_033377.2; NP_203695.2. [A6NKQ9-2]
DR UCSC; uc002plx.4; human. [A6NKQ9-1]
DR CTD; 114335; -.
DR DisGeNET; 114335; -.
DR GeneCards; CGB1; -.
DR HGNC; HGNC:16721; CGB1.
DR HPA; ENSG00000267631; Group enriched (pancreas, pituitary gland).
DR MIM; 608823; gene.
DR neXtProt; NX_A6NKQ9; -.
DR OpenTargets; ENSG00000267631; -.
DR PharmGKB; PA26435; -.
DR VEuPathDB; HostDB:ENSG00000267631; -.
DR GeneTree; ENSGT00940000163162; -.
DR InParanoid; A6NKQ9; -.
DR OrthoDB; 1362225at2759; -.
DR TreeFam; TF332940; -.
DR PathwayCommons; A6NKQ9; -.
DR SignaLink; A6NKQ9; -.
DR BioGRID-ORCS; 114335; 6 hits in 269 CRISPR screens.
DR GeneWiki; CGB1; -.
DR GenomeRNAi; 114335; -.
DR Pharos; A6NKQ9; Tdark.
DR PRO; PR:A6NKQ9; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; A6NKQ9; protein.
DR Bgee; ENSG00000267631; Expressed in body of pancreas and 47 other tissues.
DR ExpressionAtlas; A6NKQ9; baseline.
DR Genevisible; A6NKQ9; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0005179; F:hormone activity; IMP:AgBase.
DR GO; GO:0007186; P:G protein-coupled receptor signaling pathway; IBA:GO_Central.
DR CDD; cd00069; GHB_like; 1.
DR Gene3D; 2.10.90.10; -; 1.
DR InterPro; IPR029034; Cystine-knot_cytokine.
DR InterPro; IPR006208; Glyco_hormone_CN.
DR InterPro; IPR001545; Gonadotropin_bsu.
DR InterPro; IPR018245; Gonadotropin_bsu_CS.
DR PANTHER; PTHR11515; PTHR11515; 1.
DR Pfam; PF00007; Cys_knot; 1.
DR SMART; SM00068; GHB; 1.
DR SUPFAM; SSF57501; SSF57501; 1.
DR PROSITE; PS00261; GLYCO_HORMONE_BETA_1; 1.
DR PROSITE; PS00689; GLYCO_HORMONE_BETA_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Disulfide bond; Glycoprotein; Hormone;
KW Reference proteome; Secreted; Signal.
FT SIGNAL 1..50
FT /evidence="ECO:0000255"
FT CHAIN 51..187
FT /note="Choriogonadotropin subunit beta variant 1"
FT /id="PRO_0000342548"
FT REGION 161..187
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 63
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 80
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 59..107
FT /evidence="ECO:0000250"
FT DISULFID 73..122
FT /evidence="ECO:0000250"
FT DISULFID 76..160
FT /evidence="ECO:0000250"
FT DISULFID 84..138
FT /evidence="ECO:0000250"
FT DISULFID 88..140
FT /evidence="ECO:0000250"
FT DISULFID 143..150
FT /evidence="ECO:0000250"
FT VAR_SEQ 1..32
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_034490"
FT VAR_SEQ 33..35
FT /note="MFQ -> MSK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_034491"
FT VARIANT 185
FT /note="P -> S (in dbSNP:rs35371968)"
FT /id="VAR_055838"
SQ SEQUENCE 187 AA; 20468 MW; 1EB79D84CFA36ACA CRC64;
MSTFPVLAED IPLRERHVKG RVDPHFRAPK MEMFQRLLLL LLLSMGGTWA SKEPLRPRCR
PINATLAVEK EGCPVCITVN TTICAGYCPT MTRVLQGVLP ALPQVVCNYR DVRFESIRLP
GCPRGVNPVV SYAVALSCQC ALCRRSTTDC GGPKDHPLTC DDPRFQDSSS SKAPPPSLPS
PSRLPGP
