SMART: Pfam domain NESP55

The domain within your query sequence starts at position 1 and ends at position 253; the E-value for the NESP55 domain shown below is 1.2e-157.

MDRRSRAQQWRRARHNYNDLCPPIGRRAATALLWLSCSIALLRALASSNARAQQRAAQRR
SFLNAHHRSAAAAAAAQVLPESSESESDHEHEEVEPELARPECLEYDQDDYETETDSETE
PESDIESETEIETEPETEPETEPETEPEDERGPRGATFNQSLTQRLHALKLQSADASPRR
AQPTTQEPESASEGEEPQRGPLDQDPRDPEEEPEERKEENRQPRRCKTRRPARRRDQSPE
SPPRKGPIPIRRH

NESP55

PFAM accession number:	PF06390
Interpro abstract (IPR009434):	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 [ (PUBMED:9860993) ]. It is a neuroendocrine secretory granule protein originally identified by screening cDNA libraries from bovine chromaffin cells with antibody against secretogranin II [ (PUBMED:12438142) ]. It belongs to the granin family, whose members are involved in endocrine and neuronal secretory pathways [ (PUBMED:23839232) ]. NESP55 has been shown to act as biomarkers for endocrine and neuroendocrine tumours and implicated in cell growth [ (PUBMED: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 [ (PUBMED:22378814) ].
GO process:	response to parathyroid hormone (GO:0071107)

PFAM accession number:

PF06390

Interpro abstract (IPR009434):

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 [ (PUBMED:9860993) ]. It is a neuroendocrine secretory granule protein originally identified by screening cDNA libraries from bovine chromaffin cells with antibody against secretogranin II [ (PUBMED:12438142) ]. It belongs to the granin family, whose members are involved in endocrine and neuronal secretory pathways [ (PUBMED:23839232) ].

NESP55 has been shown to act as biomarkers for endocrine and neuroendocrine tumours and implicated in cell growth [ (PUBMED: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 [ (PUBMED:22378814) ].

GO process:

response to parathyroid hormone (GO:0071107)

This is a PFAM domain. For full annotation and more information, please see the PFAM entry NESP55