No CSI details found for gene ID: 5741
Other Information
This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.
Genular Protein ID: 3686908245
Symbol: PTHY_HUMAN
Name: Parathyroid hormone
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 6950381
Title: Nucleotide sequence of cloned cDNAs encoding human preproparathyroid hormone.
PubMed ID: 6950381
PubMed ID: 6220408
Title: Nucleotide sequence of the human parathyroid hormone gene.
PubMed ID: 6220408
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 7829495
Title: Inefficient membrane targeting, translocation, and proteolytic processing by signal peptidase of a mutant preproparathyroid hormone protein.
PubMed ID: 7829495
PubMed ID: 4833516
Title: Structural analysis of human proparathyroid hormone by a new microsequencing approach.
PubMed ID: 4833516
DOI: 10.1038/249155a0
PubMed ID: 15340161
Title: Signal peptide prediction based on analysis of experimentally verified cleavage sites.
PubMed ID: 15340161
DOI: 10.1110/ps.04682504
PubMed ID: 4521809
Title: The amino-acid sequence of the amino-terminal 37 residues of human parathyroid hormone.
PubMed ID: 4521809
PubMed ID: 728431
Title: Complete amino acid sequence of human parathyroid hormone.
PubMed ID: 728431
DOI: 10.1021/bi00619a019
PubMed ID: 1125201
Title: A reinvestigation of the amino-terminal sequence of human parathyroid hormone.
PubMed ID: 1125201
DOI: 10.1021/bi00680a006
PubMed ID: 4474131
Title: Solid-phase synthesis of the biologically active N-terminal 1-34 peptide of human parathyroid hormone.
PubMed ID: 4474131
PubMed ID: 4721748
Title: Synthesis of sequence 1-34 of human parathyroid hormone.
PubMed ID: 4721748
PubMed ID: 21076856
Title: Stimulation of glucose transport in osteoblastic cells by parathyroid hormone and insulin-like growth factor I.
PubMed ID: 21076856
PubMed ID: 2069952
Title: Investigation of the solution structure of the human parathyroid hormone fragment (1-34) by 1H NMR spectroscopy, distance geometry, and molecular dynamics calculations.
PubMed ID: 2069952
DOI: 10.1021/bi00242a018
PubMed ID: 8344299
Title: Stabilized NMR structure of human parathyroid hormone(1-34).
PubMed ID: 8344299
PubMed ID: 7797503
Title: Structure of human parathyroid hormone 1-37 in solution.
PubMed ID: 7797503
PubMed ID: 10623601
Title: Solution structures of human parathyroid hormone fragments hPTH(1-34) and hPTH(1-39) and bovine parathyroid hormone fragment bPTH(1-37).
PubMed ID: 10623601
PubMed ID: 10837469
Title: Crystal structure of human parathyroid hormone 1-34 at 0.9-A resolution.
PubMed ID: 10837469
PubMed ID: 18375760
Title: Molecular recognition of parathyroid hormone by its G protein-coupled receptor.
PubMed ID: 18375760
PubMed ID: 2212001
Title: Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.
PubMed ID: 2212001
DOI: 10.1172/jci114811
PubMed ID: 10523031
Title: A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.
PubMed ID: 10523031
PubMed ID: 18056632
Title: Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone.
PubMed ID: 18056632
Sequence Information:
- Length: 115
- Mass: 12861
- Checksum: 849015736A6E5597
- Sequence:
MIPAKDMAKV MIVMLAICFL TKSDGKSVKK RSVSEIQLMH NLGKHLNSME RVEWLRKKLQ DVHNFVALGA PLAPRDAGSQ RPRKKEDNVL VESHEKSLGE ADKADVNVLT KAKSQ
Details Unavailable
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{
"geneID": 5741,
"tax": {
"id": 9606,
"name": [
{
"name": "Homo sapiens Linnaeus 1758"
},
{
"name": "Homo sapiens",
"type": 0
},
{
"name": "human",
"type": 4
}
]
},
"accession": {
"gene": [
"AC021269.4"
]
},
"genePos": {
"start": 5024,
"end": 8967
},
"orientation": false,
"symbol": "PTH",
"created": {
"$date": {
"$numberLong": "1738333349107"
}
},
"crossReference": {
"enseGeneID": "ENSG00000152266",
"enseRnaID": [
"ENST00000282091.6"
],
"enseProtID": [
"ENSP00000282091.1"
]
},
"chrom": {
"pos": "11",
"type": 1,
"loc": "11p15.3"
},
"desc": "parathyroid hormone",
"geneType": 5,
"mim": [
{
"id": 168450,
"relation": 0
},
{
"id": 146200,
"relation": 1,
"cui": 5241444
}
],
"ontology": [
{
"id": "R-HSA-162582",
"term": "Signal Transduction",
"cat": 10
},
{
"id": "R-HSA-372790",
"term": "Signaling by GPCR",
"cat": 11
},
{
"id": "R-HSA-388396",
"term": "GPCR downstream signalling",
"cat": 12
},
{
"id": "R-HSA-500792",
"term": "GPCR ligand binding",
"cat": 12
},
{
"id": "R-HSA-373080",
"term": "Class B\/2 (Secretin family receptors)",
"cat": 13
},
{
"id": "R-HSA-418555",
"term": "G alpha (s) signalling events",
"cat": 13
},
{
"id": "GO:0005179",
"term": "hormone activity",
"cat": 0
},
{
"id": "GO:0005179",
"term": "hormone activity",
"pubMed": [
11604398
],
"cat": 0
},
{
"id": "GO:0005515",
"term": "protein binding",
"pubMed": [
11604398
],
"cat": 0
},
{
"id": "GO:0005515",
"term": "protein binding",
"pubMed": [
19674967,
32296183
],
"cat": 0
},
{
"id": "GO:0031856",
"term": "parathyroid hormone receptor binding",
"cat": 0
},
{
"id": "GO:0031857",
"term": "type 1 parathyroid hormone receptor binding",
"pubMed": [
11604398
],
"cat": 0
},
{
"id": "GO:0048018",
"term": "receptor ligand activity",
"pubMed": [
11604398
],
"cat": 0
},
{
"id": "GO:0051428",
"term": "peptide hormone receptor binding",
"pubMed": [
19674967
],
"cat": 0
},
{
"id": "GO:0051428",
"term": "peptide hormone receptor binding",
"pubMed": [
11604398
],
"cat": 0
},
{
"id": "GO:0001501",
"term": "skeletal system development",
"pubMed": [
10913913
],
"cat": 1
},
{
"id": "GO:0006366",
"term": "transcription by RNA polymerase II",
"cat": 1
},
{
"id": "GO:0006874",
"term": "intracellular calcium ion homeostasis",
"cat": 1
},
{
"id": "GO:0007186",
"term": "G protein-coupled receptor signaling pathway",
"pubMed": [
7797535
],
"cat": 1
},
{
"id": "GO:0007189",
"term": "adenylate cyclase-activating G protein-coupled receptor signaling pathway",
"cat": 1
},
{
"id": "GO:0007189",
"term": "adenylate cyclase-activating G protein-coupled receptor signaling pathway",
"pubMed": [
11604398
],
"cat": 1
},
{
"id": "GO:0007266",
"term": "Rho protein signal transduction",
"cat": 1
},
{
"id": "GO:0007267",
"term": "cell-cell signaling",
"cat": 1
},
{
"id": "GO:0008628",
"term": "hormone-mediated apoptotic signaling pathway",
"pubMed": [
10913913
],
"cat": 1
},
{
"id": "GO:0009059",
"term": "macromolecule biosynthetic process",
"pubMed": [
19723499
],
"cat": 1
},
{
"id": "GO:0009410",
"term": "response to xenobiotic stimulus",
"cat": 1
},
{
"id": "GO:0009967",
"term": "positive regulation of signal transduction",
"cat": 1
},
{
"id": "GO:0010288",
"term": "response to lead ion",
"cat": 1
},
{
"id": "GO:0010468",
"term": "regulation of gene expression",
"cat": 1
},
{
"id": "GO:0010628",
"term": "positive regulation of gene expression",
"cat": 1
},
{
"id": "GO:0010629",
"term": "negative regulation of gene expression",
"pubMed": [
17696759
],
"cat": 1
},
{
"id": "GO:0010960",
"term": "magnesium ion homeostasis",
"cat": 1
},
{
"id": "GO:0030282",
"term": "bone mineralization",
"cat": 1
},
{
"id": "GO:0030501",
"term": "positive regulation of bone mineralization",
"pubMed": [
17696759
],
"cat": 1
},
{
"id": "GO:0032331",
"term": "negative regulation of chondrocyte differentiation",
"cat": 1
},
{
"id": "GO:0033280",
"term": "response to vitamin D",
"cat": 1
},
{
"id": "GO:0045453",
"term": "bone resorption",
"pubMed": [
15080150
],
"cat": 1
},
{
"id": "GO:0045471",
"term": "response to ethanol",
"cat": 1
},
{
"id": "GO:0045725",
"term": "positive regulation of glycogen biosynthetic process",
"pubMed": [
21076856
],
"cat": 1
},
{
"id": "GO:0045944",
"term": "positive regulation of transcription by RNA polymerase II",
"pubMed": [
19723499
],
"cat": 1
},
{
"id": "GO:0046058",
"term": "cAMP metabolic process",
"pubMed": [
9927325
],
"cat": 1
},
{
"id": "GO:0046326",
"term": "positive regulation of D-glucose import",
"pubMed": [
21076856
],
"cat": 1
},
{
"id": "GO:0046686",
"term": "response to cadmium ion",
"cat": 1
},
{
"id": "GO:0048873",
"term": "homeostasis of number of cells within a tissue",
"cat": 1
},
{
"id": "GO:0055062",
"term": "phosphate ion homeostasis",
"cat": 1
},
{
"id": "GO:0060732",
"term": "positive regulation of inositol phosphate biosynthetic process",
"pubMed": [
11604398
],
"cat": 1
},
{
"id": "GO:0071107",
"term": "response to parathyroid hormone",
"cat": 1
},
{
"id": "GO:0071774",
"term": "response to fibroblast growth factor",
"cat": 1
},
{
"id": "GO:0071864",
"term": "positive regulation of cell proliferation in bone marrow",
"cat": 1
},
{
"id": "GO:0071866",
"term": "negative regulation of apoptotic process in bone marrow cell",
"cat": 1
},
{
"id": "GO:0090290",
"term": "positive regulation of osteoclast proliferation",
"cat": 1
},
{
"id": "GO:1900158",
"term": "negative regulation of bone mineralization involved in bone maturation",
"cat": 1
},
{
"id": "GO:0005576",
"term": "extracellular region",
"pubMed": [
14718574
],
"cat": 2
},
{
"id": "GO:0005576",
"term": "extracellular region",
"cat": 2
},
{
"id": "GO:0005615",
"term": "extracellular space",
"cat": 2
}
],
"protein": [
{
"symbol": "PTHY_HUMAN",
"name": "Parathyroid hormone",
"accession": [
"P01270",
"Q4VB48",
"Q9UD38"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"MIM": [
"146200",
"146200",
"168450"
],
"EMBL": [
"V00597",
"J00301",
"BC096142",
"BC096143",
"BC096144",
"BC096145"
],
"CCDS": [
"CCDS7812.1"
],
"PIR": [
"A19339"
],
"RefSeq": [
"NP_000306.1"
],
"PDB": [
"1BWX",
"1ET1",
"1FVY",
"1HPH",
"1HPY",
"1HTH",
"1ZWA",
"1ZWB",
"1ZWD",
"1ZWE",
"1ZWF",
"1ZWG",
"2L1X",
"3C4M",
"7VVK",
"7VVL",
"7VVM",
"7VVN",
"7VVO",
"7Y36",
"8FLQ",
"8HA0",
"8HAO",
"8T5F"
],
"PDBsum": [
"1BWX",
"1ET1",
"1FVY",
"1HPH",
"1HPY",
"1HTH",
"1ZWA",
"1ZWB",
"1ZWD",
"1ZWE",
"1ZWF",
"1ZWG",
"2L1X",
"3C4M",
"7VVK",
"7VVL",
"7VVM",
"7VVN",
"7VVO",
"7Y36",
"8FLQ",
"8HA0",
"8HAO",
"8T5F"
],
"AlphaFoldDB": [
"P01270"
],
"BMRB": [
"P01270"
],
"EMDB": [
"EMD-29283",
"EMD-32142",
"EMD-32143",
"EMD-32144",
"EMD-32145",
"EMD-32146",
"EMD-33590",
"EMD-34585",
"EMD-34598"
],
"SMR": [
"P01270"
],
"BioGRID": [
"111713"
],
"CORUM": [
"P01270"
],
"IntAct": [
"P01270"
],
"STRING": [
"9606.ENSP00000433208"
],
"BindingDB": [
"P01270"
],
"DrugBank": [
"DB05883",
"DB04419"
],
"iPTMnet": [
"P01270"
],
"MetOSite": [
"P01270"
],
"PhosphoSitePlus": [
"P01270"
],
"BioMuta": [
"PTH"
],
"DMDM": [
"131547"
],
"PaxDb": [
"9606-ENSP00000282091"
],
"PeptideAtlas": [
"P01270"
],
"ABCD": [
"P01270"
],
"Antibodypedia": [
"11928"
],
"DNASU": [
"5741"
],
"Ensembl": [
"ENST00000282091.6",
"ENST00000529816.1"
],
"KEGG": [
"hsa:5741"
],
"MANE-Select": [
"ENST00000282091.6"
],
"UCSC": [
"uc001mlb.4"
],
"AGR": [
"HGNC:9606"
],
"CTD": [
"5741"
],
"DisGeNET": [
"5741"
],
"GeneCards": [
"PTH"
],
"HGNC": [
"HGNC:9606"
],
"HPA": [
"ENSG00000152266"
],
"MalaCards": [
"PTH"
],
"neXtProt": [
"NX_P01270"
],
"OpenTargets": [
"ENSG00000152266"
],
"Orphanet": [
"189466"
],
"PharmGKB": [
"PA33951"
],
"VEuPathDB": [
"HostDB:ENSG00000152266"
],
"eggNOG": [
"ENOG502SB2W"
],
"GeneTree": [
"ENSGT00390000018603"
],
"HOGENOM": [
"CLU_164143_0_0_1"
],
"InParanoid": [
"P01270"
],
"OMA": [
"HNLGEHR"
],
"OrthoDB": [
"4209197at2759"
],
"PhylomeDB": [
"P01270"
],
"TreeFam": [
"TF336197"
],
"PathwayCommons": [
"P01270"
],
"Reactome": [
"R-HSA-373080",
"R-HSA-418555"
],
"SignaLink": [
"P01270"
],
"SIGNOR": [
"P01270"
],
"BioGRID-ORCS": [
"5741"
],
"EvolutionaryTrace": [
"P01270"
],
"GeneWiki": [
"Parathyroid_hormone"
],
"GenomeRNAi": [
"5741"
],
"Pharos": [
"P01270"
],
"PRO": [
"PR:P01270"
],
"Proteomes": [
"UP000005640"
],
"RNAct": [
"P01270"
],
"Bgee": [
"ENSG00000152266"
],
"GO": [
"GO:0005576",
"GO:0005615",
"GO:0005179",
"GO:0031856",
"GO:0051428",
"GO:0048018",
"GO:0031857",
"GO:0007189",
"GO:0030282",
"GO:0045453",
"GO:0046058",
"GO:0007267",
"GO:0007186",
"GO:0048873",
"GO:0008628",
"GO:0006874",
"GO:0009059",
"GO:0010960",
"GO:0071866",
"GO:1900158",
"GO:0032331",
"GO:0010629",
"GO:0055062",
"GO:0030501",
"GO:0071864",
"GO:0010628",
"GO:0046326",
"GO:0045725",
"GO:0060732",
"GO:0090290",
"GO:0009967",
"GO:0045944",
"GO:0010468",
"GO:0046686",
"GO:0045471",
"GO:0071774",
"GO:0010288",
"GO:0071107",
"GO:0033280",
"GO:0009410",
"GO:0007266",
"GO:0001501",
"GO:0006366"
],
"InterPro": [
"IPR003625",
"IPR001415"
],
"PANTHER": [
"PTHR10541",
"PTHR10541:SF2"
],
"Pfam": [
"PF01279"
],
"PIRSF": [
"PIRSF001832"
],
"SMART": [
"SM00087"
],
"PROSITE": [
"PS00335"
]
},
"citations": [
{
"title": "Nucleotide sequence of cloned cDNAs encoding human preproparathyroid hormone.",
"pubmedID": "6950381",
"doi": "10.1073\/pnas.78.12.7365"
},
{
"title": "Nucleotide sequence of the human parathyroid hormone gene.",
"pubmedID": "6220408",
"doi": "10.1073\/pnas.80.8.2127"
},
{
"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": "Inefficient membrane targeting, translocation, and proteolytic processing by signal peptidase of a mutant preproparathyroid hormone protein.",
"pubmedID": "7829495",
"doi": "10.1074\/jbc.270.4.1629"
},
{
"title": "Structural analysis of human proparathyroid hormone by a new microsequencing approach.",
"pubmedID": "4833516",
"doi": "10.1038\/249155a0"
},
{
"title": "Signal peptide prediction based on analysis of experimentally verified cleavage sites.",
"pubmedID": "15340161",
"doi": "10.1110\/ps.04682504"
},
{
"title": "The amino-acid sequence of the amino-terminal 37 residues of human parathyroid hormone.",
"pubmedID": "4521809",
"doi": "10.1073\/pnas.71.2.384"
},
{
"title": "Complete amino acid sequence of human parathyroid hormone.",
"pubmedID": "728431",
"doi": "10.1021\/bi00619a019"
},
{
"title": "A reinvestigation of the amino-terminal sequence of human parathyroid hormone.",
"pubmedID": "1125201",
"doi": "10.1021\/bi00680a006"
},
{
"title": "Solid-phase synthesis of the biologically active N-terminal 1-34 peptide of human parathyroid hormone.",
"pubmedID": "4474131",
"doi": "10.1515\/bchm2.1974.355.1.415"
},
{
"title": "Synthesis of sequence 1-34 of human parathyroid hormone.",
"pubmedID": "4721748",
"doi": "10.1002\/hlca.19730560139"
},
{
"title": "Stimulation of glucose transport in osteoblastic cells by parathyroid hormone and insulin-like growth factor I.",
"pubmedID": "21076856",
"doi": "10.1007\/s11010-010-0634-z"
},
{
"title": "Investigation of the solution structure of the human parathyroid hormone fragment (1-34) by 1H NMR spectroscopy, distance geometry, and molecular dynamics calculations.",
"pubmedID": "2069952",
"doi": "10.1021\/bi00242a018"
},
{
"title": "Stabilized NMR structure of human parathyroid hormone(1-34).",
"pubmedID": "8344299",
"doi": "10.1111\/j.1432-1033.1993.tb18037.x"
},
{
"title": "Structure of human parathyroid hormone 1-37 in solution.",
"pubmedID": "7797503",
"doi": "10.1074\/jbc.270.25.15194"
},
{
"title": "Solution structures of human parathyroid hormone fragments hPTH(1-34) and hPTH(1-39) and bovine parathyroid hormone fragment bPTH(1-37).",
"pubmedID": "10623601",
"doi": "10.1006\/bbrc.1999.1958"
},
{
"title": "Crystal structure of human parathyroid hormone 1-34 at 0.9-A resolution.",
"pubmedID": "10837469",
"doi": "10.1074\/jbc.m001134200"
},
{
"title": "Molecular recognition of parathyroid hormone by its G protein-coupled receptor.",
"pubmedID": "18375760",
"doi": "10.1073\/pnas.0801027105"
},
{
"title": "Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.",
"pubmedID": "2212001",
"doi": "10.1172\/jci114811"
},
{
"title": "A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.",
"pubmedID": "10523031",
"doi": "10.1210\/jcem.84.10.6070"
},
{
"title": "Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone.",
"pubmedID": "18056632",
"doi": "10.1073\/pnas.0708725104"
}
],
"sequence": {
"length": 115,
"mass": 12861,
"checksum": "849015736A6E5597",
"modified": {
"$date": {
"$numberLong": "555811200000"
}
},
"version": 1,
"sequence": "MIPAKDMAKVMIVMLAICFLTKSDGKSVKKRSVSEIQLMHNLGKHLNSMERVEWLRKKLQDVHNFVALGAPLAPRDAGSQRPRKKEDNVLVESHEKSLGEADKADVNVLTKAKSQ"
},
"existence": 0,
"relevance": 1,
"proteinID": 3686908245
}
],
"singleCellExpressions": {
"cellSignificanceIndex": []
}
}