1. Gene
  2. CGB1 - chorionic gonadotropin subunit beta 1 Gene

CGB1 - chorionic gonadotropin subunit beta 1 Gene

Homo sapiens
Gene ID: 114335 | Gene type: protein coding

About CGB1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,035,569-49,036,895 (from NCBI)

This gene has 2 transcripts (splice variants), 36 orthologues and 9 paralogues. Restricted expression toward placenta (RPKM 22.7).

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]

CGB1 Products(2)

mRNA Protein Name
NM_001382421.1 NP_001369350.1 choriogonadotropin subunit beta variant 1 isoform 2
NM_033377.2 NP_203695.2 choriogonadotropin subunit beta variant 1 isoform 1 precursor
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables hormone activity IMP
IMP: Inferred from mutant phenotype
19523396 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CGB1 Protein Structure

Cys_knot

Cys_knot: Cystine-knot domain (25 - 128)

  • 0
  • 100
  • 155 a.a.
Protein Preferred Names Protein Names

choriogonadotropin subunit beta variant 1

chorionic gonadotropin beta subunit 1

Related Diseases

Diseases Alias
Chorioangioma

Placental Hemangioma

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CGB1 MGD MGI:96782
Rattus norvegicus CGB1 NCBI