Details Currently Unavailable
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AI-Generated Summary
Disclaimer: This summary is AI-generated based on limited data and may be speculative or contain inaccuracies. Detailed expression analysis for this entry is unavailable.
Raw Database JSON for Gene ID: 2688
{
"geneID": 2688,
"tax": {
"id": 9606,
"name": [
{
"name": "Homo sapiens Linnaeus 1758"
},
{
"name": "Homo sapiens",
"type": 0
},
{
"name": "human",
"type": 4
}
]
},
"accession": {
"gene": [
"AC127029.12"
]
},
"genePos": {
"start": 5000,
"end": 6636
},
"orientation": false,
"symbol": "GH1",
"created": {
"$date": {
"$numberLong": "1738333348830"
}
},
"crossReference": {
"enseGeneID": "ENSG00000259384",
"enseRnaID": [
"ENST00000323322.10"
],
"enseProtID": [
"ENSP00000312673.5"
]
},
"chrom": {
"pos": "17",
"type": 1,
"loc": "17q23.3"
},
"desc": "growth hormone 1",
"geneType": 5,
"mim": [
{
"id": 173100,
"relation": 1,
"cui": 271567
},
{
"id": 139250,
"relation": 0
},
{
"id": 262400,
"relation": 1,
"cui": 342573
},
{
"id": 262650,
"relation": 1,
"cui": 1849779
}
],
"ontology": [
{
"id": "R-HSA-168256",
"term": "Immune System",
"cat": 10
},
{
"id": "R-HSA-392499",
"term": "Metabolism of proteins",
"cat": 10
},
{
"id": "R-HSA-1280215",
"term": "Cytokine Signaling in Immune system",
"cat": 11
},
{
"id": "R-HSA-2980736",
"term": "Peptide hormone metabolism",
"cat": 11
},
{
"id": "R-HSA-1170546",
"term": "Prolactin receptor signaling",
"cat": 12
},
{
"id": "R-HSA-422085",
"term": "Synthesis, secretion, and deacylation of Ghrelin",
"cat": 12
},
{
"id": "R-HSA-982772",
"term": "Growth hormone receptor signaling",
"cat": 12
},
{
"id": "GO:0005125",
"term": "cytokine activity",
"pubMed": [
7782332
],
"cat": 0
},
{
"id": "GO:0005131",
"term": "growth hormone receptor binding",
"cat": 0
},
{
"id": "GO:0005131",
"term": "growth hormone receptor binding",
"pubMed": [
6303755
],
"cat": 0
},
{
"id": "GO:0005131",
"term": "growth hormone receptor binding",
"pubMed": [
1549776,
2825030,
8943276,
9571026
],
"cat": 0
},
{
"id": "GO:0005148",
"term": "prolactin receptor binding",
"pubMed": [
10890569
],
"cat": 0
},
{
"id": "GO:0005148",
"term": "prolactin receptor binding",
"pubMed": [
7984244
],
"cat": 0
},
{
"id": "GO:0005179",
"term": "hormone activity",
"cat": 0
},
{
"id": "GO:0005515",
"term": "protein binding",
"pubMed": [
8943276,
9353194,
31279174
],
"cat": 0
},
{
"id": "GO:0008083",
"term": "growth factor activity",
"cat": 0
},
{
"id": "GO:0008083",
"term": "growth factor activity",
"pubMed": [
1549776
],
"cat": 0
},
{
"id": "GO:0008083",
"term": "growth factor activity",
"pubMed": [
9360546
],
"cat": 0
},
{
"id": "GO:0046872",
"term": "metal ion binding",
"cat": 0
},
{
"id": "GO:0070186",
"term": "growth hormone activity",
"pubMed": [
1549776,
8943276
],
"cat": 0
},
{
"id": "GO:0002092",
"term": "positive regulation of receptor internalization",
"pubMed": [
9360546
],
"cat": 1
},
{
"id": "GO:0007259",
"term": "cell surface receptor signaling pathway via JAK-STAT",
"pubMed": [
8063815
],
"cat": 1
},
{
"id": "GO:0010828",
"term": "positive regulation of D-glucose transmembrane transport",
"pubMed": [
9144201
],
"cat": 1
},
{
"id": "GO:0019221",
"term": "cytokine-mediated signaling pathway",
"pubMed": [
7782332
],
"cat": 1
},
{
"id": "GO:0031667",
"term": "response to nutrient levels",
"cat": 1
},
{
"id": "GO:0032355",
"term": "response to estradiol",
"pubMed": [
12552091
],
"cat": 1
},
{
"id": "GO:0040018",
"term": "positive regulation of multicellular organism growth",
"pubMed": [
7565946,
20110402
],
"cat": 1
},
{
"id": "GO:0040018",
"term": "positive regulation of multicellular organism growth",
"pubMed": [
8496314
],
"cat": 1
},
{
"id": "GO:0043406",
"term": "positive regulation of MAP kinase activity",
"pubMed": [
8063815
],
"cat": 1
},
{
"id": "GO:0043568",
"term": "positive regulation of insulin-like growth factor receptor signaling pathway",
"pubMed": [
7565946
],
"cat": 1
},
{
"id": "GO:0046427",
"term": "positive regulation of receptor signaling pathway via JAK-STAT",
"cat": 1
},
{
"id": "GO:0046427",
"term": "positive regulation of receptor signaling pathway via JAK-STAT",
"pubMed": [
8923468
],
"cat": 1
},
{
"id": "GO:0048513",
"term": "animal organ development",
"cat": 1
},
{
"id": "GO:0051897",
"term": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction",
"pubMed": [
7782332
],
"cat": 1
},
{
"id": "GO:0060396",
"term": "growth hormone receptor signaling pathway",
"cat": 1
},
{
"id": "GO:0060396",
"term": "growth hormone receptor signaling pathway",
"pubMed": [
1549776,
8063815
],
"cat": 1
},
{
"id": "GO:0060397",
"term": "growth hormone receptor signaling pathway via JAK-STAT",
"pubMed": [
12552091
],
"cat": 1
},
{
"id": "GO:0070977",
"term": "bone maturation",
"pubMed": [
20110402
],
"cat": 1
},
{
"id": "GO:0097696",
"term": "cell surface receptor signaling pathway via STAT",
"pubMed": [
12552091
],
"cat": 1
},
{
"id": "GO:0005576",
"term": "extracellular region",
"cat": 2
},
{
"id": "GO:0005615",
"term": "extracellular space",
"cat": 2
},
{
"id": "GO:0005615",
"term": "extracellular space",
"pubMed": [
5810834
],
"cat": 2
},
{
"id": "GO:0005615",
"term": "extracellular space",
"pubMed": [
11549663
],
"cat": 2
},
{
"id": "GO:0031904",
"term": "endosome lumen",
"cat": 2
},
{
"id": "GO:0062023",
"term": "collagen-containing extracellular matrix",
"pubMed": [
28327460
],
"cat": 2
},
{
"id": "GO:0070195",
"term": "growth hormone receptor complex",
"pubMed": [
1549776,
8943276,
9571026
],
"cat": 2
}
],
"protein": [
{
"symbol": "SOMA_HUMAN",
"name": "Somatotropin",
"accession": [
"P01241",
"A6NEF6",
"Q14405",
"Q16631",
"Q5EB53",
"Q9HBZ1",
"Q9UMJ7",
"Q9UNL5"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"MIM": [
"262400",
"612781",
"262650",
"173100",
"139250",
"173100",
"262400",
"262650",
"612781"
],
"EMBL": [
"V00519",
"V00520",
"M13438",
"J03071",
"AF185611",
"AF110644",
"EU421712",
"AC127029",
"CH471109",
"BC062475",
"BC075012",
"BC075013",
"BC090045",
"CD106566",
"M14398"
],
"CCDS": [
"CCDS11653.1",
"CCDS11654.1",
"CCDS45760.1"
],
"PIR": [
"A93731"
],
"RefSeq": [
"NP_000506.2",
"NP_072053.1",
"NP_072054.1"
],
"PDB": [
"1A22",
"1AXI",
"1BP3",
"1HGU",
"1HUW",
"1HWG",
"1HWH",
"1KF9",
"3HHR",
"6QIO"
],
"PDBsum": [
"1A22",
"1AXI",
"1BP3",
"1HGU",
"1HUW",
"1HWG",
"1HWH",
"1KF9",
"3HHR",
"6QIO"
],
"AlphaFoldDB": [
"P01241"
],
"BMRB": [
"P01241"
],
"SASBDB": [
"P01241"
],
"SMR": [
"P01241"
],
"BioGRID": [
"108955"
],
"DIP": [
"DIP-1022N"
],
"IntAct": [
"P01241"
],
"STRING": [
"9606.ENSP00000312673"
],
"iPTMnet": [
"P01241"
],
"MetOSite": [
"P01241"
],
"PhosphoSitePlus": [
"P01241"
],
"BioMuta": [
"GH1"
],
"MassIVE": [
"P01241"
],
"PaxDb": [
"9606-ENSP00000312673"
],
"PeptideAtlas": [
"P01241"
],
"ProteomicsDB": [
"51353",
"51354",
"51355",
"51356",
"982"
],
"ABCD": [
"P01241"
],
"Antibodypedia": [
"52672"
],
"DNASU": [
"2688"
],
"Ensembl": [
"ENST00000323322.10",
"ENST00000351388.8",
"ENST00000458650.6"
],
"KEGG": [
"hsa:2688"
],
"MANE-Select": [
"ENST00000323322.10"
],
"UCSC": [
"uc002jdi.4"
],
"AGR": [
"HGNC:4261"
],
"CTD": [
"2688"
],
"DisGeNET": [
"2688"
],
"GeneCards": [
"GH1"
],
"HGNC": [
"HGNC:4261"
],
"HPA": [
"ENSG00000259384"
],
"MalaCards": [
"GH1"
],
"neXtProt": [
"NX_P01241"
],
"OpenTargets": [
"ENSG00000259384"
],
"Orphanet": [
"231662",
"231671",
"231679",
"629"
],
"PharmGKB": [
"PA171"
],
"VEuPathDB": [
"HostDB:ENSG00000259384"
],
"eggNOG": [
"ENOG502R5GJ"
],
"GeneTree": [
"ENSGT00950000182818"
],
"HOGENOM": [
"CLU_088274_2_1_1"
],
"InParanoid": [
"P01241"
],
"OMA": [
"VAYCYSE"
],
"OrthoDB": [
"5344007at2759"
],
"PhylomeDB": [
"P01241"
],
"TreeFam": [
"TF332592"
],
"PathwayCommons": [
"P01241"
],
"Reactome": [
"R-HSA-1170546",
"R-HSA-422085",
"R-HSA-982772"
],
"SABIO-RK": [
"P01241"
],
"SignaLink": [
"P01241"
],
"SIGNOR": [
"P01241"
],
"BioGRID-ORCS": [
"2688"
],
"ChiTaRS": [
"GH1"
],
"EvolutionaryTrace": [
"P01241"
],
"GenomeRNAi": [
"2688"
],
"Pharos": [
"P01241"
],
"PRO": [
"PR:P01241"
],
"Proteomes": [
"UP000005640"
],
"RNAct": [
"P01241"
],
"Bgee": [
"ENSG00000259384"
],
"ExpressionAtlas": [
"P01241"
],
"GO": [
"GO:0031904",
"GO:0005576",
"GO:0005615",
"GO:0070195",
"GO:0005125",
"GO:0008083",
"GO:0070186",
"GO:0005131",
"GO:0005179",
"GO:0046872",
"GO:0005148",
"GO:0048513",
"GO:0070977",
"GO:0007259",
"GO:0097696",
"GO:0019221",
"GO:0060396",
"GO:0060397",
"GO:0010828",
"GO:0045927",
"GO:0043568",
"GO:0043406",
"GO:0040018",
"GO:0051897",
"GO:0046427",
"GO:0042531",
"GO:0032355",
"GO:0031667"
],
"CDD": [
"cd10285"
],
"Gene3D": [
"1.20.1250.10"
],
"InterPro": [
"IPR009079",
"IPR034975",
"IPR001400",
"IPR018116"
],
"PANTHER": [
"PTHR11417:SF2",
"PTHR11417"
],
"Pfam": [
"PF00103"
],
"PRINTS": [
"PR00836"
],
"SUPFAM": [
"SSF47266"
],
"PROSITE": [
"PS00266",
"PS00338"
],
"ChEBI": [
"CHEBI:29105",
"CHEBI:29105"
]
},
"citations": [
{
"title": "Molecular cloning and nucleotide sequence of the human growth hormone structural gene.",
"pubmedID": "386281",
"doi": "10.1093/nar/7.2.305"
},
{
"title": "Human growth hormone: complementary DNA cloning and expression in bacteria.",
"pubmedID": "377496",
"doi": "10.1126/science.377496"
},
{
"title": "Human growth hormone DNA sequence and mRNA structure: possible alternative splicing.",
"pubmedID": "6269091",
"doi": "10.1093/nar/9.15.3719"
},
{
"title": "The human growth hormone gene family: nucleotide sequences show recent divergence and predict a new polypeptide hormone.",
"pubmedID": "7169009",
"doi": "10.1089/dna.1.1982.1.239"
},
{
"title": "The human growth hormone locus: nucleotide sequence, biology, and evolution.",
"pubmedID": "2744760",
"doi": "10.1016/0888-7543(89)90271-1"
},
{
"title": "Complex signatures of locus-specific selective pressures and gene conversion on human growth hormone/chorionic somatomammotropin genes.",
"pubmedID": "18473352",
"doi": "10.1002/humu.20767"
},
{
"title": "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.",
"pubmedID": "16625196",
"doi": "10.1038/nature04689"
},
{
"title": "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.",
"pubmedID": "10931946",
"doi": "10.1073/pnas.160270997"
},
{
"title": "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).",
"pubmedID": "15489334",
"doi": "10.1101/gr.2596504"
},
{
"title": "Periplasmic production of correctly processed human growth hormone in Escherichia coli: natural and bacterial signal sequences are interchangeable.",
"pubmedID": "3912261",
"doi": "10.1016/0378-1119(85)90319-1"
},
{
"title": "Human pituitary growth hormone. XIX. The primary structure of the hormone.",
"pubmedID": "5810834",
"doi": "10.1016/0003-9861(69)90489-5"
},
{
"title": "Human pituitary growth hormone. 32. The primary structure of the hormone: revision.",
"pubmedID": "5144027",
"doi": "10.1016/s0003-9861(71)80060-7"
},
{
"title": "Sequence comparison of human pituitary growth hormone, human chorionic somatomammotropin, and ovine pituitary growth and lactogenic hormones.",
"pubmedID": "4675454",
"doi": "10.1111/j.1399-3011.1972.tb03430.x"
},
{
"title": "Revised primary structure for human growth hormone.",
"pubmedID": "5279046",
"doi": "10.1038/newbio230090a0"
},
{
"title": "Sequences of pituitary and placental lactogenic and growth hormones: evolution from a primordial peptide by gene reduplication.",
"pubmedID": "5279528",
"doi": "10.1073/pnas.68.4.866"
},
{
"title": "The 20,000 molecular weight variant of human growth hormone. Preparation and some physical and chemical properties.",
"pubmedID": "7462247",
"doi": "10.1016/s0021-9258(19)69793-0"
},
{
"title": "The 20,000-dalton variant of human growth hormone: location of the amino acid deletions.",
"pubmedID": "7356479",
"doi": "10.1016/0006-291x(80)90363-0"
},
{
"title": "Altered proteolytic cleavage of human growth hormone as a result of deamidation.",
"pubmedID": "7028740",
"doi": "10.1016/s0021-9258(19)68453-x"
},
{
"title": "A new mutation causing inherited growth hormone deficiency: a compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene.",
"pubmedID": "8364549",
"doi": "10.1093/hmg/2.7.1073"
},
{
"title": "Identification and characterization of phosphorylated proteins in the human pituitary.",
"pubmedID": "14997482",
"doi": "10.1002/pmic.200300584"
},
{
"title": "Growth hormone heterogeneity in human pituitary and plasma.",
"pubmedID": "10393484",
"doi": "10.1159/000053128"
},
{
"title": "Phosphoproteomic analysis of the human pituitary.",
"pubmedID": "16807684",
"doi": "10.1007/s11102-006-8916-x"
},
{
"title": "Prediction of the three-dimensional structure of human growth hormone.",
"pubmedID": "3447173",
"doi": "10.1002/prot.340020209"
},
{
"title": "Human growth hormone and extracellular domain of its receptor: crystal structure of the complex.",
"pubmedID": "1549776",
"doi": "10.1126/science.1549776"
},
{
"title": "The X-ray structure of a growth hormone-prolactin receptor complex.",
"pubmedID": "7984244",
"doi": "10.1038/372478a0"
},
{
"title": "Crystal structure of an antagonist mutant of human growth hormone, G120R, in complex with its receptor at 2.9-A resolution.",
"pubmedID": "8943276",
"doi": "10.1074/jbc.271.50.32197"
},
{
"title": "Short stature caused by a mutant growth hormone.",
"pubmedID": "8552145",
"doi": "10.1056/nejm199602153340704"
},
{
"title": "Detection of growth hormone gene defects by dideoxy fingerprinting (ddF).",
"pubmedID": "9152628",
"doi": "10.1507/endocrj.44.149"
},
{
"title": "Biologically inactive growth hormone caused by an amino acid substitution.",
"pubmedID": "9276733",
"doi": "10.1172/jci119627"
},
{
"title": "Characterization of single-nucleotide polymorphisms in coding regions of human genes.",
"pubmedID": "10391209",
"doi": "10.1038/10290"
},
{
"title": "Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion.",
"pubmedID": "11502836",
"doi": "10.1210/jcem.86.8.7723"
},
{
"title": "Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.",
"pubmedID": "12655557",
"doi": "10.1002/humu.10168"
},
{
"title": "A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway.",
"pubmedID": "15001589",
"doi": "10.1210/jc.2003-030652"
},
{
"title": "Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).",
"pubmedID": "15713716",
"doi": "10.1210/jc.2004-1838"
},
{
"title": "Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature.",
"pubmedID": "17519310",
"doi": "10.1210/jc.2006-2238"
}
],
"sequence": {
"length": 217,
"mass": 24847,
"checksum": "72CC15AF4ED1C51A",
"modified": {
"$date": {
"$numberLong": "699408000000"
}
},
"version": 2,
"sequence": "MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFEEAYIPKEQKYSFLQNPQTSLCFSESIPTPSNREETQQKSNLELLRISLLLIQSWLEPVQFLRSVFANSLVYGASDSNVYDLLKDLEEGIQTLMGRLEDGSPRTGQIFKQTYSKFDTNSHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF"
},
"existence": 0,
"relevance": 1,
"proteinID": 3404326332
},
{
"symbol": "B1A4G7_HUMAN",
"accession": [
"B1A4G7"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"EMBL": [
"EU421712",
"CH471109",
"ABZ88712.1",
"EAW94261.1"
],
"RefSeq": [
"NP_072053.1"
],
"AlphaFoldDB": [
"B1A4G7"
],
"SMR": [
"B1A4G7"
],
"Antibodypedia": [
"52672"
],
"DNASU": [
"2688"
],
"CTD": [
"2688"
],
"DisGeNET": [
"2688"
],
"PharmGKB": [
"PA171"
],
"VEuPathDB": [
"HostDB:ENSG00000259384"
],
"OrthoDB": [
"5344007at2759"
],
"BioGRID-ORCS": [
"2688"
],
"ChiTaRS": [
"GH1"
],
"ExpressionAtlas": [
"B1A4G7"
],
"GO": [
"GO:0005615",
"GO:0008083",
"GO:0005131",
"GO:0005179",
"GO:0046872",
"GO:0048513",
"GO:0060396",
"GO:0045927",
"GO:0046427",
"GO:0042531",
"GO:0031667"
],
"CDD": [
"cd10285"
],
"Gene3D": [
"1.20.1250.10"
],
"InterPro": [
"IPR009079",
"IPR034975",
"IPR001400",
"IPR018116"
],
"PANTHER": [
"PTHR11417:SF2",
"PTHR11417"
],
"Pfam": [
"PF00103"
],
"PRINTS": [
"PR00836"
],
"SUPFAM": [
"SSF47266"
],
"PROSITE": [
"PS00266",
"PS00338"
],
"ChEBI": [
"CHEBI:29105",
"CHEBI:29105"
],
"ARBA": [
"ARBA00004613",
"ARBA00008474",
"ARBA00022702",
"ARBA00023157",
"ARBA00025313"
],
"PIRSR": [
"PIRSR601400-1"
],
"RuleBase": [
"RU003618"
],
"SAM": [
"SignalP"
]
},
"citations": [
{
"title": "The sequence of the human genome.",
"pubmedID": "11181995",
"doi": "10.1126/science.1058040"
},
{
"title": "Complex signatures of locus-specific selective pressures and gene conversion on human growth hormone/chorionic somatomammotropin genes.",
"pubmedID": "18473352",
"doi": "10.1002/humu.20767"
}
],
"sequence": {
"length": 202,
"mass": 22992,
"checksum": "65342A13E1856C5E",
"modified": {
"$date": {
"$numberLong": "1207612800000"
}
},
"version": 1,
"sequence": "MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFNPQTSLCFSESIPTPSNREETQQKSNLELLRISLLLIQSWLEPVQFLRSVFANSLVYGASDSNVYDLLKDLEEGIQTLMGRLEDGSPRTGQIFKQTYSKFDTNSHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF"
},
"existence": 2,
"relevance": 2,
"proteinID": 3459311846
}
],
"singleCellExpressions": {
"cellSignificanceIndex": []
}
}