HORDB

ID: hor005759
Uniprot ID: O95467
Protein name: GPIPIRRH peptide
Gene name: GNAS
Organism: Homo sapiens (Human)
Family: NESP55 family
Source: Human
Expression: NA
Disease: Diseases associated with GNAS include Mccune-Albright Syndrome and Pseudohypoparathyroidism, Type Ia.
Comments: NA
Taxonomy: Homo (genus), Homininae (subfamily), Hominidae (family), Hominoidea (superfamily), Catarrhini (parvorder), Simiiformes (infraorder), Haplorrhini (suborder), Primates (order), Euarchontoglires (superorder), Boreoeutheria , Eutheria , Theria , Mammalia (class), Amniota , Tetrapoda , Dipnotetrapodomorpha , Sarcopterygii (superclass), Euteleostomi , Teleostomi , Gnathostomata , Vertebrata , Craniata (subphylum), Chordata (phylum), Deuterostomia , Bilateria , Eumetazoa , Metazoa (kingdom), Opisthokonta , Eukaryota (superkingdom),cellular organisms
GO MF: GO:0003674 molecular_function
GO BP: GO:0007565 female pregnancy; GO:0009306 protein secretion; GO:0040015 negative regulation of multicellular organism growth; GO:0071107 response to parathyroid hormone; GO:0120162 positive regulation of cold-induced thermogenesis
GO CC: GO:0005576 extracellular region; GO:0005634 nucleus; GO:0005737 cytoplasm; GO:0030133 transport vesicle; GO:0031410 cytoplasmic vesicle; GO:0048471 perinuclear region of cytoplasm

Sequence: GPIPIRRH
Length: 8(238-245)
Propeptide: MDRRSRAQQWRRARHNYNDLCPPIGRRAATALLWLSCSIALLRALATSNARAQQRAAAQQRRSFLNAHHRSGAQVFPESPESESDHEHEEADLELSLPECLEYEEEFDYETESETESEIESETDFETEPETAPTTEPETEPEDDRGPVVPKHSTFGQSLTQRLHALKLRSPDASPSRAPPSTQEPQSPREGEELKPEDKDPRDPEESKEPKEEKQRRRCKPKKPTRRDASPESPSKKGPIPIRRH
Signal peptide: MDRRSRAQQWRRARHNYNDLCPPIGRRAATALLWLSCSIALLRALA
Modification: NA
Glycosylation: NA
Mutagenesis: NA

Function: NA
Mechanism: This protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame. The GNAS locus is imprinted in a complex manner, giving rise to distinct paternally, maternally and biallelically expressed proteins. The XLas isoforms are paternally derived, the Gnas isoforms are biallelically derived and the Nesp55 isoforms are maternally derived.[Isoform Nesp55]: Shares no sequence similarity with other isoforms due to a novel first exon containing the entire reading frame spliced to shared exon 2 so that exons 2-13 make up the 3'-UTR.
Cross BBB: NA
Target: NA
Target Unid: NA
IC50: NA
EC50: NA
ED50: NA
kd: NA
Half life: NA

Structure: (PDB_ID-from https://www.rcsb.org/; AlphaFold_DB_ID-from https://alphafold.ebi.ac.uk/; hordbxxxxxx_AF2.pdb was predicted structure by AlphaFold2; hordbxxxxxx_ESM.pdb was predicted structure by ESMFold)

hor005759_AF2.pdb

hor005759_ESM.pdb

Mass:	107017	Formula:	C42H72N16O9
Absent amino acids:	ACDEFKLMNQSTVWY	Common amino acids:	IPR
pI:	12.5	Basic residues:	3
Polar residues:	1	Hydrophobic residues:	2
Hydrophobicity:	-85	Boman Index:	-2372
Half-Life:	30 hour	Half-Life Yeast:	>20 hour
Half-Life E.Coli:	>10 hour	Aliphatic Index	97.5
Instability Index:	10082.5	Extinction Coefficient cystines:	0
Absorbance 280nm:	0

PubMed ID: 9860993
Title: Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.
PubMed ID: 10749992
Title: An imprinted antisense transcript at the human GNAS1 locus.
PubMed ID: 10729789
Title: Neuroendocrine secretory protein 55 (NESP55): alternative splicing onto tran
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