Family

Neuroendocrine secretory protein 55 (IPR009434)

Short name: NESP55

Family relationships

None.

Description

The imprinted GNAS cluster, located on chromosome 2 in mice and chromosome 20 in humans, contains transcripts that are maternally, paternally, and/or biallelically expressed. Neuroendocrine secretory protein 55 (NESP55) is encoded by an upstream exon of the GNAS1 gene, which is expressed exclusively from the maternal allele [PMID: 9860993]. It is a neuroendocrine secretory granule protein originally identified by screening cDNA libraries from bovine chromaffin cells with antibody against secretogranin II [PMID: 12438142]. It belongs to the granin family, whose members are involved in endocrine and neuronal secretory pathways [PMID: 23839232].

NESP55 has been shown to act as biomarkers for endocrine and neuroendocrine tumours and implicated in cell growth [PMID: 23839232]. It has been linked to pseudohypoparathyroidism type Ib (PHP-1b), an imprinted human disorder associated with methylation changes at one or several differentially methylated regions at the GNAS locus [PMID: 22378814].

GO terms

Biological Process

GO:0071107 response to parathyroid hormone

Molecular Function

No terms assigned in this category.

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam