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    CGB1 chorionic gonadotropin subunit beta 1 [ Homo sapiens (human) ]

    Gene ID: 114335, updated on 23-Nov-2023

    Summary

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    Official Symbol
    CGB1provided by HGNC
    Official Full Name
    chorionic gonadotropin subunit beta 1provided by HGNC
    Primary source
    HGNC:HGNC:16721
    See related
    Ensembl:ENSG00000267631 MIM:608823; AllianceGenome:HGNC:16721
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Restricted expression toward placenta (RPKM 22.7) See more
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    Genomic context

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    See CGB1 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49035569..49036895, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52030352..52031678, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49538826..49540152, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene small NF90 (ILF3) associated RNA G2 Neighboring gene chorionic gonadotropin subunit beta 2 Neighboring gene small NF90 (ILF3) associated RNA G1 Neighboring gene neurotrophin 6 beta (pseudogene)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. these data provide new insight into the roles and mechanisms of b-hCG in regulating Epithelial ovarian cancer (EOC metastasis through ERK/MMP2 signaling pathway and may become a new target for therapeutic intervention.
      Title: β-hCG promotes epithelial ovarian cancer metastasis through ERK/MMP2 signaling pathway.
    2. The presence of CGB1 and CGB2 transcripts in 41% of analyzed ovarian cancer cases, is reported.
      Title: Human chorionic gonadotropin beta subunit genes CGB1 and CGB2 are transcriptionally active in ovarian cancer.
    3. In silico prediction of putative transcription factor binding sites supports the hypothesis that CGB1 and CGB2 gene products are expressed in, and may contribute to, implantation and placental development.
      Title: The evolution and genomic landscape of CGB1 and CGB2 genes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hormone activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    choriogonadotropin subunit beta variant 1
    Names
    chorionic gonadotropin beta subunit 1
    chorionic gonadotropin, beta polypeptide 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001382421.1 → NP_001369350.1  choriogonadotropin subunit beta variant 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC008687
      UniProtKB/TrEMBL
      A0A0F7RPU2
      Related
      ENSP00000472896.2, ENST00000601167.1
      Conserved Domains (1) summary
      smart00068
      Location:11 → 117
      GHB; Glycoprotein hormone beta chain homologues

    2. NM_033377.2 → NP_203695.2  choriogonadotropin subunit beta variant 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_203695.2

      Status: REVIEWED

      Source sequence(s)
      AC008687
      Consensus CDS
      CCDS12751.2
      UniProtKB/TrEMBL
      A0A0F7RPU2
      Related
      ENSP00000301407.6, ENST00000301407.8
      Conserved Domains (1) summary
      smart00068
      Location:23 → 129
      GHB; Glycoprotein hormone beta chain homologues

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      49035569..49036895 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      52030352..52031678 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NKQ9.3 GenPept UniProtKB/Swiss-Prot:A6NKQ9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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