No CSI details found for gene ID: 5626
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: 1863555675
Symbol: PROP1_HUMAN
Name: Homeobox protein prophet of Pit-1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9824293
Title: Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency.
PubMed ID: 9824293
PubMed ID: 9462743
Title: Mutations in PROP1 cause familial combined pituitary hormone deficiency.
PubMed ID: 9462743
DOI: 10.1038/ng0298-147
PubMed ID: 15372022
Title: The DNA sequence and comparative analysis of human chromosome 5.
PubMed ID: 15372022
DOI: 10.1038/nature02919
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: 9768691
Title: Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).
PubMed ID: 9768691
PubMed ID: 10946881
Title: Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.
PubMed ID: 10946881
PubMed ID: 11549703
Title: PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.
PubMed ID: 11549703
PubMed ID: 12519826
Title: Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.
PubMed ID: 12519826
PubMed ID: 15531542
Title: A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.
PubMed ID: 15531542
PubMed ID: 19128366
Title: Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).
PubMed ID: 19128366
Sequence Information:
- Length: 226
- Mass: 24984
- Checksum: CE6D59B3D295A86D
- Sequence:
MEAERRRQAE KPKKGRVGSN LLPERHPATG TPTTTVDSSA PPCRRLPGAG GGRSRFSPQG GQRGRPHSRR RHRTTFSPVQ LEQLESAFGR NQYPDIWARE SLARDTGLSE ARIQVWFQNR RAKQRKQERS LLQPLAHLSP AAFSSFLPES TACPYSYAAP PPPVTCFPHP YSHALPSQPS TGGAFALSHQ SEDWYPTLHP APAGHLPCPP PPPMLPLSLE PSKSWN
Genular Protein ID: 1317479259
Symbol: A0A0G2JQ02_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11181995
Sequence Information:
- Length: 226
- Mass: 24957
- Checksum: D04A7C60F5B07DB4
- Sequence:
MEAERRRQAE KPKKGRVGSS LLPERHPATG TPTTTVDSSA PPCRRLPGAG GGRSRFSPQG GQRGRPHSRR RHRTTFSPVQ LEQLESAFGR NQYPDIWARE SLARDTGLSE ARIQVWFQNR RAKQRKQERS LLQPLAHLSP AAFSSFLPES TACPYSYAAP PPPVTCFPHP YSHALPSQPS TGGAFALSHQ SEDWYPTLHP APAGHLPCPP PPPMLPLSLE PSKSWN
Details Unavailable
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{
"geneID": 5626,
"tax": {
"id": 9606,
"name": [
{
"name": "Homo sapiens Linnaeus 1758"
},
{
"name": "Homo sapiens",
"type": 0
},
{
"name": "human",
"type": 4
}
]
},
"accession": {
"gene": [
"AC114936.2"
]
},
"genePos": {
"start": 5000,
"end": 9007
},
"orientation": true,
"symbol": "PROP1",
"created": {
"$date": {
"$numberLong": "1738333349105"
}
},
"crossReference": {
"enseGeneID": "ENSG00000175325",
"enseRnaID": [
"ENST00000308304.2"
],
"enseProtID": [
"ENSP00000311290.2"
]
},
"chrom": {
"pos": "5",
"type": 1,
"loc": "5q35.3"
},
"desc": "PROP paired-like homeobox 1",
"geneType": 5,
"mim": [
{
"id": 262600,
"relation": 1,
"cui": 878683
},
{
"id": 601538,
"relation": 0
}
],
"ontology": [
{
"id": "GO:0000978",
"term": "RNA polymerase II cis-regulatory region sequence-specific DNA binding",
"cat": 0
},
{
"id": "GO:0000981",
"term": "DNA-binding transcription factor activity, RNA polymerase II-specific",
"cat": 0
},
{
"id": "GO:0001227",
"term": "DNA-binding transcription repressor activity, RNA polymerase II-specific",
"cat": 0
},
{
"id": "GO:0001228",
"term": "DNA-binding transcription activator activity, RNA polymerase II-specific",
"cat": 0
},
{
"id": "GO:0003682",
"term": "chromatin binding",
"cat": 0
},
{
"id": "GO:0005515",
"term": "protein binding",
"pubMed": [
23732115,
32296183,
36217029
],
"cat": 0
},
{
"id": "GO:0008013",
"term": "beta-catenin binding",
"cat": 0
},
{
"id": "GO:1990837",
"term": "sequence-specific double-stranded DNA binding",
"pubMed": [
28473536
],
"cat": 0
},
{
"id": "GO:0000122",
"term": "negative regulation of transcription by RNA polymerase II",
"cat": 1
},
{
"id": "GO:0001568",
"term": "blood vessel development",
"cat": 1
},
{
"id": "GO:0006357",
"term": "regulation of transcription by RNA polymerase II",
"cat": 1
},
{
"id": "GO:0006915",
"term": "apoptotic process",
"cat": 1
},
{
"id": "GO:0007417",
"term": "central nervous system development",
"pubMed": [
9462743
],
"cat": 1
},
{
"id": "GO:0009953",
"term": "dorsal\/ventral pattern formation",
"cat": 1
},
{
"id": "GO:0016477",
"term": "cell migration",
"cat": 1
},
{
"id": "GO:0021979",
"term": "hypothalamus cell differentiation",
"cat": 1
},
{
"id": "GO:0043066",
"term": "negative regulation of apoptotic process",
"cat": 1
},
{
"id": "GO:0045944",
"term": "positive regulation of transcription by RNA polymerase II",
"cat": 1
},
{
"id": "GO:0048850",
"term": "hypophysis morphogenesis",
"cat": 1
},
{
"id": "GO:0060126",
"term": "somatotropin secreting cell differentiation",
"cat": 1
},
{
"id": "GO:0000785",
"term": "chromatin",
"cat": 2
},
{
"id": "GO:0005634",
"term": "nucleus",
"cat": 2
},
{
"id": "GO:0005667",
"term": "transcription regulator complex",
"cat": 2
}
],
"protein": [
{
"symbol": "PROP1_HUMAN",
"name": "Homeobox protein prophet of Pit-1",
"accession": [
"O75360"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"UniProtKB": [
"P0DTD1",
"P0DTD1",
"P0DTD1",
"P0DTD1",
"P0DTD1"
],
"MIM": [
"262600",
"262600",
"601538"
],
"EMBL": [
"AF076214",
"AF076215",
"AF041141",
"AF041139",
"AF041140",
"AC136940",
"BC069076"
],
"CCDS": [
"CCDS4430.1"
],
"RefSeq": [
"NP_006252.3"
],
"AlphaFoldDB": [
"O75360"
],
"SMR": [
"O75360"
],
"BioGRID": [
"111610"
],
"IntAct": [
"O75360"
],
"STRING": [
"9606.ENSP00000311290"
],
"iPTMnet": [
"O75360"
],
"PhosphoSitePlus": [
"O75360"
],
"BioMuta": [
"PROP1"
],
"MassIVE": [
"O75360"
],
"PaxDb": [
"9606-ENSP00000311290"
],
"PeptideAtlas": [
"O75360"
],
"ProteomicsDB": [
"49924"
],
"Antibodypedia": [
"29400"
],
"DNASU": [
"5626"
],
"Ensembl": [
"ENST00000308304.2"
],
"KEGG": [
"hsa:5626"
],
"MANE-Select": [
"ENST00000308304.2"
],
"UCSC": [
"uc003mif.1"
],
"AGR": [
"HGNC:9455"
],
"CTD": [
"5626"
],
"DisGeNET": [
"5626"
],
"GeneCards": [
"PROP1"
],
"GeneReviews": [
"PROP1"
],
"HGNC": [
"HGNC:9455"
],
"HPA": [
"ENSG00000175325"
],
"MalaCards": [
"PROP1"
],
"neXtProt": [
"NX_O75360"
],
"OpenTargets": [
"ENSG00000175325"
],
"Orphanet": [
"95494",
"226307",
"90695"
],
"PharmGKB": [
"PA33808"
],
"VEuPathDB": [
"HostDB:ENSG00000175325"
],
"eggNOG": [
"KOG0490"
],
"GeneTree": [
"ENSGT00940000162292"
],
"HOGENOM": [
"CLU_044912_1_0_1"
],
"InParanoid": [
"O75360"
],
"OMA": [
"CPYSYPT"
],
"OrthoDB": [
"3673628at2759"
],
"PhylomeDB": [
"O75360"
],
"TreeFam": [
"TF315976"
],
"PathwayCommons": [
"O75360"
],
"SignaLink": [
"O75360"
],
"BioGRID-ORCS": [
"5626"
],
"GeneWiki": [
"PROP1"
],
"GenomeRNAi": [
"5626"
],
"Pharos": [
"O75360"
],
"PRO": [
"PR:O75360"
],
"Proteomes": [
"UP000005640"
],
"RNAct": [
"O75360"
],
"Bgee": [
"ENSG00000175325"
],
"GO": [
"GO:0000785",
"GO:0005634",
"GO:0005667",
"GO:0008013",
"GO:0003682",
"GO:0001228",
"GO:0000981",
"GO:0001227",
"GO:0000978",
"GO:1990837",
"GO:0006915",
"GO:0001568",
"GO:0016477",
"GO:0007417",
"GO:0009953",
"GO:0048850",
"GO:0021979",
"GO:0043066",
"GO:0006357",
"GO:0060126"
],
"CDD": [
"cd00086"
],
"Gene3D": [
"1.10.10.60"
],
"InterPro": [
"IPR001356",
"IPR017970",
"IPR009057",
"IPR000047",
"IPR042412"
],
"PANTHER": [
"PTHR47409",
"PTHR47409:SF1"
],
"Pfam": [
"PF00046"
],
"PRINTS": [
"PR00031"
],
"SMART": [
"SM00389"
],
"SUPFAM": [
"SSF46689"
],
"PROSITE": [
"PS00027",
"PS50071"
]
},
"citations": [
{
"title": "Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency.",
"pubmedID": "9824293",
"doi": "10.1016\/s0014-5793(98)01234-4"
},
{
"title": "Mutations in PROP1 cause familial combined pituitary hormone deficiency.",
"pubmedID": "9462743",
"doi": "10.1038\/ng0298-147"
},
{
"title": "The DNA sequence and comparative analysis of human chromosome 5.",
"pubmedID": "15372022",
"doi": "10.1038\/nature02919"
},
{
"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": "Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).",
"pubmedID": "9768691",
"doi": "10.1210\/jcem.83.10.5172"
},
{
"title": "Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.",
"pubmedID": "10946881",
"doi": "10.1210\/jcem.85.8.6744"
},
{
"title": "PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.",
"pubmedID": "11549703",
"doi": "10.1210\/jcem.86.9.7811"
},
{
"title": "Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.",
"pubmedID": "12519826",
"doi": "10.1210\/jc.2001-011872"
},
{
"title": "A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.",
"pubmedID": "15531542",
"doi": "10.1210\/jc.2003-032124"
},
{
"title": "Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).",
"pubmedID": "19128366",
"doi": "10.1111\/j.1365-2265.2008.03326.x"
}
],
"sequence": {
"length": 226,
"mass": 24984,
"checksum": "CE6D59B3D295A86D",
"modified": {
"$date": {
"$numberLong": "1288656000000"
}
},
"version": 2,
"sequence": "MEAERRRQAEKPKKGRVGSNLLPERHPATGTPTTTVDSSAPPCRRLPGAGGGRSRFSPQGGQRGRPHSRRRHRTTFSPVQLEQLESAFGRNQYPDIWARESLARDTGLSEARIQVWFQNRRAKQRKQERSLLQPLAHLSPAAFSSFLPESTACPYSYAAPPPPVTCFPHPYSHALPSQPSTGGAFALSHQSEDWYPTLHPAPAGHLPCPPPPPMLPLSLEPSKSWN"
},
"existence": 0,
"relevance": 1,
"proteinID": 1863555675
},
{
"symbol": "A0A0G2JQ02_HUMAN",
"accession": [
"A0A0G2JQ02"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"EMBL": [
"CH471390",
"EAW50395.1"
],
"RefSeq": [
"NP_006252.3"
],
"DNASU": [
"5626"
],
"Ensembl": [
"ENST00000614006.2",
"ENSP00000484677.1"
],
"KEGG": [
"hsa:5626"
],
"CTD": [
"5626"
],
"DisGeNET": [
"5626"
],
"HGNC": [
"HGNC:9455"
],
"OrthoDB": [
"3673628at2759"
],
"BioGRID-ORCS": [
"5626"
],
"Proteomes": [
"UP000005640",
"UP000005640"
],
"GO": [
"GO:0005634",
"GO:0003677",
"GO:0000981",
"GO:0021983"
],
"CDD": [
"cd00086"
],
"Gene3D": [
"1.10.10.60"
],
"InterPro": [
"IPR001356",
"IPR017970",
"IPR009057",
"IPR000047",
"IPR042412"
],
"PANTHER": [
"PTHR47409",
"PTHR47409:SF1"
],
"Pfam": [
"PF00046"
],
"PRINTS": [
"PR00031"
],
"SMART": [
"SM00389"
],
"SUPFAM": [
"SSF46689"
],
"PROSITE": [
"PS00027",
"PS50071",
"PS50071"
],
"ARBA": [
"ARBA00002030",
"ARBA00019432",
"ARBA00023125",
"ARBA00023155",
"ARBA00023242",
"ARBA00030888"
],
"PROSITE-ProRule": [
"PRU00108"
],
"RuleBase": [
"RU000682"
],
"SAM": [
"MobiDB-lite"
],
"PeptideAtlas": [
"A0A0G2JQ02"
]
},
"citations": [
{
"title": "The sequence of the human genome.",
"pubmedID": "11181995",
"doi": "10.1126\/science.1058040"
}
],
"sequence": {
"length": 226,
"mass": 24957,
"checksum": "D04A7C60F5B07DB4",
"modified": {
"$date": {
"$numberLong": "1437523200000"
}
},
"version": 1,
"sequence": "MEAERRRQAEKPKKGRVGSSLLPERHPATGTPTTTVDSSAPPCRRLPGAGGGRSRFSPQGGQRGRPHSRRRHRTTFSPVQLEQLESAFGRNQYPDIWARESLARDTGLSEARIQVWFQNRRAKQRKQERSLLQPLAHLSPAAFSSFLPESTACPYSYAAPPPPVTCFPHPYSHALPSQPSTGGAFALSHQSEDWYPTLHPAPAGHLPCPPPPPMLPLSLEPSKSWN"
},
"existence": 0,
"relevance": 2,
"proteinID": 1317479259
}
]
}