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

Summary

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

Location:: 19q13.33

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (49035569..49036895, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (52030352..52031678, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49538826..49540152, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:485942

NoName (e-PCR)
- UniSTS:482158

D19S1130 (e-PCR)
- UniSTS:53128

RH71426 (e-PCR)
- UniSTS:32956

STS-J00117 (e-PCR)
- UniSTS:32231

NoName (e-PCR)
- UniSTS:480488

NoName (e-PCR)
- UniSTS:489972

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
involved_in signal transduction	IEA Inferred from Electronic Annotation 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)

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
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