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CGB1 Gene

protein-coding   GIFtS: 41
GCID: GC19M049538

Chorionic Gonadotropin, Beta Polypeptide 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chorionic Gonadotropin, Beta Polypeptide 11 2
Choriogonadotropin Subunit Beta Variant 12

External Ids:    HGNC: 167211   Entrez Gene: 1143352   Ensembl: ENSG000002676317   OMIM: 6088235   UniProtKB: A6NKQ93   

Export aliases for CGB1 gene to outside databases

Previous GC identifers: GC19M050185 GC19M049895 GC19M054203 GC19M054219 GC19M054230 GC19M054224 GC19M045915


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CGB1 Gene:
The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar
genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing
hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed
region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit,
however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that
these transcripts are translated. To date, a protein product corresponding to CGB1 has not been isolated. The
deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB
subunits (PMID:8954017). However, a 155 aa protein, translated from a different frame, is about the same size,
and shares 98% identity with other CGB subunits. (provided by RefSeq, Jul 2008)

GeneCards Summary for CGB1 Gene:
CGB1 (chorionic gonadotropin, beta polypeptide 1) is a protein-coding gene. GO annotations related to this gene include hormone activity. An important paralog of this gene is TSHB.

Gene Wiki entry for CGB1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CGB1 gene promoter:
         AhR   NF-1   NF-1/L   Pax-5   Egr-4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCGB1 promoter sequence
   Search Chromatin IP Primers for CGB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CGB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.32   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.32

CGB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CGB1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M049538:  view genomic region     (about GC identifiers)

Start:
49,538,826 bp from pter      End:
49,552,006 bp from pter
Size:
13,181 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CGB1_HUMAN, A6NKQ9 (See protein sequence)
Recommended Name: Choriogonadotropin subunit beta variant 1 precursor  
Size: 187 amino acids; 20468 Da
Secondary accessions: A4FVC8 A8MUK6
Alternative splicing: 2 isoforms:  A6NKQ9-1   A6NKQ9-2   

Explore the universe of human proteins at neXtProt for CGB1: NX_A6NKQ9

Explore proteomics data for CGB1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn63, Asn80

  • See CGB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_203695.2  
    ENSEMBL proteins: 
     ENSP00000301407   ENSP00000472896   ENSP00000375742  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR018245 Gonadotropin_bsu_CS
     IPR001545 Gonadotropin_bsu
     IPR006208 Cys_knot

    Graphical View of Domain Structure for InterPro Entry A6NKQ9

    ProtoNet protein and cluster: A6NKQ9

    UniProtKB/Swiss-Prot: CGB1_HUMAN, A6NKQ9
    Similarity: Belongs to the glycoprotein hormones subunit beta family


    Find genes that share domains with CGB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005179hormone activity IEA--
         
    Find genes that share ontologies with CGB1           About GenesLikeMe


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CGB1_HUMAN, A6NKQ9: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    lysosome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    Find genes that share ontologies with CGB1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CGB1
    Interactions:

        Search GeneGlobe Interaction Network for CGB1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for CGB1 (ENSP000003014074) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NR5A1ENSP000003626904STRING: ENSP00000362690
    NR5A2ENSP000003563314STRING: ENSP00000356331
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CGB1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CGB1 gene: 
    NM_033377.1  

    Unigene Cluster for CGB1:

    Chorionic gonadotropin, beta polypeptide 1
    Hs.659014  [show with all ESTs]
    Unigene Representative Sequence: BX334904
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301407(uc002plx.3) ENST00000601167 ENST00000391869
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    Additional mRNA sequence: 

    BC107144.1 BC126460.1 

    6 DOTS entries:

    DT.119691  DT.97797965  DT.100837633  DT.100044715  DT.121475007  DT.101971461 

    Selected AceView cDNA sequences (see all 409):

    CF528125 CF528337 N27073 CF528240 CF527834 CF527795 CF527893 CF528202 
    BU752823 AI219133 T50278 BQ007403 NM_033142 BM977377 CF527771 CR613376 
    AI189442 CF528140 BU752328 CF527846 CF528062 CF528345 CF527874 CF527932 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --


    CGB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Placenta (Extraembryonic Tissues)
             Syncytiotrophoblast-like cells
    CGB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CGB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.659014

    UniProtKB/Swiss-Prot: CGB1_HUMAN, A6NKQ9
    Tissue specificity: Expressed in placenta, testis and pituitary

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CGB1 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    36(a)
    1 → many
    6(80158039-80158659)
    zebrafish
    (Danio rerio)
    Actinopterygii lhb6
    luteinizing hormone, beta polypeptide
    39(a)
    1 → many
    Zv9_scaffold3525(54871-57837) ENSDARG00000035709
            Species with no ortholog for CGB1

    ENSEMBL Gene Tree for CGB1 (if available)
    TreeFam Gene Tree for CGB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CGB1 gene
    CGB21 2  TSHB2  FSHB2  LHB2  CGB82  ENSG000002673352  CGB52  CGB2  
    CGB72  
    8 SIMAP similar genes for CGB1 using alignment to 3 protein entries:     CGB1_HUMAN (see all proteins):
    CGB    CGB5    CGB8    CGB2    CGB7    LHB
    FSHB    TSHB

    Find genes that share paralogs with CGB1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CGB1 (see all 36)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs711790761,2
    C--49540499(-) ATCCC-/A/AA  
            
    AAAAA
    1 -- us2k11NA 2
    rs1398805711,2
    C--49540940(+) GCCTCA/GGAGGA 1 -- us2k10--------
    rs1426438921,2
    --49541489(+) GCTATG/TATTAT 1 -- us2k10--------
    rs1886170061,2
    --49541491(+) TATTAG/TTATTA 1 -- us2k10--------
    rs1510216251,2
    --49541564(+) CCACAC/TTGTTG 1 -- us2k10--------
    rs1929215831,2
    --49541638(+) TTCCCA/CAACTG 1 -- us2k10--------
    rs1444515791,2
    --49541650(+) GGTCCA/GTCCGT 1 -- us2k10--------
    rs1416214581,2
    C,F--49541825(+) ATCAGT/CGGTCA 1 -- us2k11Minor allele frequency- C:0.03EU 520
    rs1381204491,2
    --49541877(+) CAGTGC/TCCCCC 1 -- us2k10--------
    rs1491396311,2
    C,F--49541882(+) CCCCCC/TGGTCC 1 -- us2k11Minor allele frequency- T:0.07EU 559

    HapMap Linkage Disequilibrium report for CGB1 (49538826 - 49552006 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CGB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718698CNV Deletion23290073
    nsv833859CNV Loss17160897
    nsv912248CNV Loss21882294
    nsv833857CNV Loss17160897
    nsv912251CNV Loss21882294
    dgv3970n71CNV Loss21882294
    nsv912252CNV Loss21882294
    dgv592n67CNV Loss20364138
    esv22462CNV Gain19812545
    nsv9739CNV Gain+Loss18304495

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608823    OMIM disorders: --


    Find genes that share disorders with CGB1           About GenesLikeMe


    Export disorders for CGB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CGB1 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with CGB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The beta subunit of human chorionic gonadotropin is encoded by multiple genes. (PubMed id 6194155)1, 3 Policastro P....Boime I. (J. Biol. Chem. 1983)
    2. The evolution and genomic landscape of CGB1 and CGB2 genes. (PubMed id 17055150)1, 9 Hallast P....Laan M. (Mol. Cell. Endocrinol. 2007)
    3. Analysis of the human CGB/LHB gene cluster in breast tumors by real-time quantitative RT-PCR assays. (PubMed id 11368883)1, 9 Giovangrandi Y....BiA"che I. (Cancer Lett. 2001)
    4. Human Chorionic Gonadotropin Beta Subunit Genes CGB1 and CGB2 are Transcriptionally Active in Ovarian Cancer. (PubMed id 23774837)1 Kubiczak M....Jankowska A. (Int J Mol Sci 2013)
    5. Fine-scale quantification of HCG beta gene transcription in human trophoblastic and non-malignant non-trophoblastic tissues. (PubMed id 18048458)2 Rull K.... Laan M. (Mol. Hum. Reprod. 2008)
    6. Expression of beta-subunit of HCG genes during normal and failed pregnancy. (PubMed id 16123088)2 Rull K. and Laan M. (Hum. Reprod. 2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (Nature 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 114335 HGNC: 16721 AceView: CGB_ Ensembl:ENSG00000267631 euGenes: HUgn114335
    ECgene: CGB1 H-InvDB: CGB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CGB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CGB1 gene:
    Search GeneIP for patents involving CGB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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