HORDB

ID: hor005760
Uniprot ID: O95467??163-166)
Protein name: LHAL tetrapeptide
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: LHAL
Length: 4(163-166)
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)

hor005760_AF2.pdb

hor005760_ESM.pdb

Mass:	50626	Formula:	C21H36N6O5
Absent amino acids:	CDEFGIKMNPQRSTVWY	Common amino acids:	L
pI:	7.55	Basic residues:	1
Polar residues:	0	Hydrophobic residues:	3
Hydrophobicity:	155	Boman Index:	699
Half-Life:	5.5 hour	Half-Life Yeast:	3 min
Half-Life E.Coli:	2 min	Aliphatic Index	220
Instability Index:	750	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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