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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]
CGB1 (Chorionic Gonadotropin Subunit Beta 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include hormone activity. An important paralog of this gene is CGB3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005179 | hormone activity | IEA,IMP | 19523396 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA | -- |
GO:0007186 | G protein-coupled receptor signaling pathway | IBA | 21873635 |
GO:0009755 | hormone-mediated signaling pathway | IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | LHB 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | LHB 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Lhb 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | LHB 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | lhb 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs35371968 | - | p.Pro185Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv592n67 | CNV | loss | 20364138 |
esv22462 | CNV | gain | 19812545 |
esv2718698 | CNV | deletion | 23290073 |
nsv579907 | CNV | loss | 21841781 |
nsv833857 | CNV | loss | 17160897 |
nsv833859 | CNV | loss | 17160897 |
nsv953598 | CNV | deletion | 24416366 |
nsv9739 | CNV | gain+loss | 18304495 |
nsv978832 | CNV | duplication | 23825009 |
No disorders were found for CGB1 Gene.