General Information

  • ID:  hor005760
  • Uniprot ID:  O95467
  • 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 Information

  • Sequence:  LHAL
  • Length:  4
  • Propeptide:  MDRRSRAQQWRRARHNYNDLCPPIGRRAATALLWLSCSIALLRALATSNARAQQRAAAQQRRSFLNAHHRSGAQVFPESPESESDHEHEEADLELSLPECLEYEEEFDYETESETESEIESETDFETEPETAPTTEPETEPEDDRGPVVPKHSTFGQSLTQRLHALKLRSPDASPSRAPPSTQEPQSPREGEELKPEDKDPRDPEESKEPKEEKQRRRCKPKKPTRRDASPESPSKKGPIPIRRH
  • Signal peptide:  MDRRSRAQQWRRARHNYNDLCPPIGRRAATALLWLSCSIALLRALA
  • Modification:  NA
  • Glycosylation:  NA
  • Mutagenesis:  NA

Activity

  • 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

  • Disulfide bond:  NA
  • Structure ID:  AF-O95467-F1(AlphaFold_DB_ID)
  • 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.pdbhor005760_ESM.pdb

Physical Information

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

Literature

  • 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 transcripts of the GNAS gene and posttranslational processing of a maternally expressed protein.
  • PubMed ID:  14702039
  • Title:  Complete sequencing and characterization of 21,243 full-length human cDNAs.
  • PubMed ID:  11067869
  • Title:  A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.
  • PubMed ID:  11294659
  • Title:  Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.
  • PubMed ID:  11029463
  • Title:  Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.
  • PubMed ID:  12858292
  • Title:  Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1.
  • PubMed ID:  12727968
  • Title:  Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.
  • PubMed ID:  14561710
  • Title:  Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
  • PubMed ID:  15800843
  • Title:  A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.
  • PubMed ID:  15592469
  • Title:  Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.