No CSI details found for gene ID: 265
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: 74626928
Symbol: AMELX_HUMAN
Name: Amelogenin, X isoform
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 1734713
Title: The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes.
PubMed ID: 1734713
PubMed ID: 11922868
Title: A nomenclature for X-linked amelogenesis imperfecta.
PubMed ID: 11922868
PubMed ID: 15772651
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: 2509010
PubMed ID: 8118759
Title: Production of a monoclonal antibody against human amelogenin.
PubMed ID: 8118759
DOI: 10.1007/bf00316294
PubMed ID: 2004775
Title: A human X-Y homologous region encodes 'amelogenin'.
PubMed ID: 2004775
PubMed ID: 8254123
Title: Amino acid sequence of a major human amelogenin protein employing Edman degradation and cDNA sequencing.
PubMed ID: 8254123
PubMed ID: 25789606
Title: A secretory kinase complex regulates extracellular protein phosphorylation.
PubMed ID: 25789606
DOI: 10.7554/elife.06120
PubMed ID: 7782077
Title: Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta.
PubMed ID: 7782077
PubMed ID: 7599636
Title: Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1).
PubMed ID: 7599636
PubMed ID: 10669095
Title: Mutational analysis of X-linked amelogenesis imperfecta in multiple families.
PubMed ID: 10669095
PubMed ID: 9188994
Title: An amelogenin gene defect associated with human X-linked amelogenesis imperfecta.
PubMed ID: 9188994
PubMed ID: 15111628
Title: Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta.
PubMed ID: 15111628
Sequence Information:
- Length: 191
- Mass: 21603
- Checksum: 322C88DA3F7155DC
- Sequence:
MGTWILFACL LGAAFAMPLP PHPGHPGYIN FSYEVLTPLK WYQSIRPPYP SYGYEPMGGW LHHQIIPVLS QQHPPTHTLQ PHHHIPVVPA QQPVIPQQPM MPVPGQHSMT PIQHHQPNLP PPAQQPYQPQ PVQPQPHQPM QPQPPVHPMQ PLPPQPPLPP MFPMQPLPPM LPDLTLEAWP STDKTKREEV D
Details Unavailable
Detailed CSI data for this gene is not available. You will be redirected to a page with all available raw data in 3 seconds.
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{
"geneID": 265,
"tax": {
"id": 9606,
"name": [
{
"name": "Homo sapiens Linnaeus 1758"
},
{
"name": "Homo sapiens",
"type": 0
},
{
"name": "human",
"type": 4
}
]
},
"accession": {
"gene": [
"AY694821.1"
]
},
"symbol": "AMELX",
"created": {
"$date": {
"$numberLong": "1738333348650"
}
},
"crossReference": {
"enseGeneID": "ENSG00000125363",
"enseRnaID": [
"ENST00000380714.7"
],
"enseProtID": [
"ENSP00000370090.3"
]
},
"genePos": {
"end": 11309588,
"start": 11293413
},
"chrom": {
"loc": "Xp22.2"
},
"desc": "amelogenin X-linked",
"geneType": 5,
"mim": [
{
"id": 300391,
"relation": 0
},
{
"id": 301200,
"relation": 1,
"cui": 1845053
}
],
"ontology": [
{
"id": "R-HSA-392499",
"term": "Metabolism of proteins",
"cat": 10
},
{
"id": "R-HSA-381426",
"term": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)",
"cat": 11
},
{
"id": "R-HSA-597592",
"term": "Post-translational protein modification",
"cat": 11
},
{
"id": "R-HSA-8957275",
"term": "Post-translational protein phosphorylation",
"cat": 12
},
{
"id": "GO:0005515",
"term": "protein binding",
"pubMed": [
18434575
],
"cat": 0
},
{
"id": "GO:0008083",
"term": "growth factor activity",
"pubMed": [
1734713
],
"cat": 0
},
{
"id": "GO:0030345",
"term": "structural constituent of tooth enamel",
"cat": 0
},
{
"id": "GO:0030345",
"term": "structural constituent of tooth enamel",
"pubMed": [
1734713,
2509010
],
"cat": 0
},
{
"id": "GO:0030345",
"term": "structural constituent of tooth enamel",
"pubMed": [
1483698
],
"cat": 0
},
{
"id": "GO:0042802",
"term": "identical protein binding",
"pubMed": [
1734713
],
"cat": 0
},
{
"id": "GO:0046848",
"term": "hydroxyapatite binding",
"pubMed": [
1734713
],
"cat": 0
},
{
"id": "GO:0001649",
"term": "osteoblast differentiation",
"pubMed": [
1734713
],
"cat": 1
},
{
"id": "GO:0001837",
"term": "epithelial to mesenchymal transition",
"pubMed": [
1734713
],
"cat": 1
},
{
"id": "GO:0002062",
"term": "chondrocyte differentiation",
"pubMed": [
1734713
],
"cat": 1
},
{
"id": "GO:0007155",
"term": "cell adhesion",
"pubMed": [
1734713
],
"cat": 1
},
{
"id": "GO:0007165",
"term": "signal transduction",
"pubMed": [
16674683
],
"cat": 1
},
{
"id": "GO:0007584",
"term": "response to nutrient",
"cat": 1
},
{
"id": "GO:0009410",
"term": "response to xenobiotic stimulus",
"cat": 1
},
{
"id": "GO:0031214",
"term": "biomineral tissue development",
"pubMed": [
2509010
],
"cat": 1
},
{
"id": "GO:0032967",
"term": "positive regulation of collagen biosynthetic process",
"pubMed": [
1734713
],
"cat": 1
},
{
"id": "GO:0034505",
"term": "tooth mineralization",
"pubMed": [
1483698
],
"cat": 1
},
{
"id": "GO:0034505",
"term": "tooth mineralization",
"pubMed": [
1734713
],
"cat": 1
},
{
"id": "GO:0042127",
"term": "regulation of cell population proliferation",
"pubMed": [
1734713
],
"cat": 1
},
{
"id": "GO:0042475",
"term": "odontogenesis of dentin-containing tooth",
"pubMed": [
1734713
],
"cat": 1
},
{
"id": "GO:0051592",
"term": "response to calcium ion",
"cat": 1
},
{
"id": "GO:0070166",
"term": "enamel mineralization",
"cat": 1
},
{
"id": "GO:0070166",
"term": "enamel mineralization",
"pubMed": [
1916828
],
"cat": 1
},
{
"id": "GO:0070172",
"term": "positive regulation of tooth mineralization",
"pubMed": [
2509010
],
"cat": 1
},
{
"id": "GO:0097186",
"term": "amelogenesis",
"cat": 1
},
{
"id": "GO:0005576",
"term": "extracellular region",
"cat": 2
},
{
"id": "GO:0005788",
"term": "endoplasmic reticulum lumen",
"cat": 2
},
{
"id": "GO:0009986",
"term": "cell surface",
"pubMed": [
1734713
],
"cat": 2
},
{
"id": "GO:0030139",
"term": "endocytic vesicle",
"cat": 2
},
{
"id": "GO:0062023",
"term": "collagen-containing extracellular matrix",
"cat": 2
},
{
"id": "GO:0062023",
"term": "collagen-containing extracellular matrix",
"pubMed": [
2509010
],
"cat": 2
}
],
"protein": [
{
"symbol": "AMELX_HUMAN",
"name": "Amelogenin, X isoform",
"accession": [
"Q99217",
"Q96NW6",
"Q9UCA7"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"MIM": [
"301200",
"300391",
"301200"
],
"EMBL": [
"M86932",
"AF436849",
"AY040206",
"AC002366",
"BC074951",
"M55418",
"X14440",
"S67147"
],
"CCDS": [
"CCDS14144.1",
"CCDS14145.1",
"CCDS14146.1"
],
"PIR": [
"B41816"
],
"RefSeq": [
"NP_001133.1",
"NP_872621.1",
"NP_872622.1"
],
"AlphaFoldDB": [
"Q99217"
],
"IntAct": [
"Q99217"
],
"STRING": [
"9606.ENSP00000370088"
],
"PhosphoSitePlus": [
"Q99217"
],
"BioMuta": [
"AMELX"
],
"DMDM": [
"1168430"
],
"PaxDb": [
"9606-ENSP00000370088"
],
"PeptideAtlas": [
"Q99217"
],
"ProteomicsDB": [
"78250"
],
"TopDownProteomics": [
"Q99217-2"
],
"Antibodypedia": [
"23742"
],
"DNASU": [
"265"
],
"Ensembl": [
"ENST00000348912.4",
"ENST00000380712.7",
"ENST00000380714.7"
],
"KEGG": [
"hsa:265"
],
"MANE-Select": [
"ENST00000380714.7"
],
"UCSC": [
"uc004cus.3"
],
"AGR": [
"HGNC:461"
],
"CTD": [
"265"
],
"DisGeNET": [
"265"
],
"GeneCards": [
"AMELX"
],
"HGNC": [
"HGNC:461"
],
"HPA": [
"ENSG00000125363"
],
"MalaCards": [
"AMELX"
],
"neXtProt": [
"NX_Q99217"
],
"OpenTargets": [
"ENSG00000125363"
],
"Orphanet": [
"100033"
],
"PharmGKB": [
"PA24766"
],
"VEuPathDB": [
"HostDB:ENSG00000125363"
],
"eggNOG": [
"ENOG502S4XP"
],
"GeneTree": [
"ENSGT00390000009151"
],
"HOGENOM": [
"CLU_120753_0_0_1"
],
"InParanoid": [
"Q99217"
],
"OMA": [
"FSYENSY"
],
"OrthoDB": [
"4520512at2759"
],
"PhylomeDB": [
"Q99217"
],
"TreeFam": [
"TF337092"
],
"PathwayCommons": [
"Q99217"
],
"Reactome": [
"R-HSA-381426",
"R-HSA-8957275"
],
"SignaLink": [
"Q99217"
],
"BioGRID-ORCS": [
"265"
],
"GeneWiki": [
"AMELX"
],
"GenomeRNAi": [
"265"
],
"Pharos": [
"Q99217"
],
"PRO": [
"PR:Q99217"
],
"Proteomes": [
"UP000005640"
],
"RNAct": [
"Q99217"
],
"Bgee": [
"ENSG00000125363"
],
"GO": [
"GO:0009986",
"GO:0062023",
"GO:0030139",
"GO:0005788",
"GO:0005576",
"GO:0008083",
"GO:0046848",
"GO:0042802",
"GO:0030345",
"GO:0097186",
"GO:0031214",
"GO:0007155",
"GO:0002062",
"GO:0070166",
"GO:0001837",
"GO:0042475",
"GO:0001649",
"GO:0032967",
"GO:0070172",
"GO:0042127",
"GO:0051592",
"GO:0007584",
"GO:0009410",
"GO:0007165",
"GO:0034505"
],
"InterPro": [
"IPR004116"
],
"PANTHER": [
"PTHR46794:SF2",
"PTHR46794"
],
"Pfam": [
"PF02948"
],
"PRINTS": [
"PR01757"
],
"SMART": [
"SM00818"
]
},
"citations": [
{
"title": "The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes.",
"pubmedID": "1734713"
},
{
"title": "A nomenclature for X-linked amelogenesis imperfecta.",
"pubmedID": "11922868",
"doi": "10.1016\/s0003-9969(02)00005-5"
},
{
"title": "The DNA sequence of the human X chromosome.",
"pubmedID": "15772651",
"doi": "10.1038\/nature03440"
},
{
"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": "Human amelogenins: sequences of 'TRAP' molecules.",
"pubmedID": "2509010",
"doi": "10.1007\/bf02556044"
},
{
"title": "Production of a monoclonal antibody against human amelogenin.",
"pubmedID": "8118759",
"doi": "10.1007\/bf00316294"
},
{
"title": "A human X-Y homologous region encodes 'amelogenin'.",
"pubmedID": "2004775",
"doi": "10.1016\/0888-7543(91)90251-9"
},
{
"title": "Amino acid sequence of a major human amelogenin protein employing Edman degradation and cDNA sequencing.",
"pubmedID": "8254123",
"doi": "10.1177\/00220345930720120601"
},
{
"title": "A secretory kinase complex regulates extracellular protein phosphorylation.",
"pubmedID": "25789606",
"doi": "10.7554\/elife.06120"
},
{
"title": "Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta.",
"pubmedID": "7782077",
"doi": "10.1016\/0888-7543(95)80097-6"
},
{
"title": "Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1).",
"pubmedID": "7599636",
"doi": "10.1002\/humu.1380050310"
},
{
"title": "Mutational analysis of X-linked amelogenesis imperfecta in multiple families.",
"pubmedID": "10669095",
"doi": "10.1016\/s0003-9969(99)00106-5"
},
{
"title": "An amelogenin gene defect associated with human X-linked amelogenesis imperfecta.",
"pubmedID": "9188994",
"doi": "10.1016\/s0003-9969(96)00099-4"
},
{
"title": "Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta.",
"pubmedID": "15111628",
"doi": "10.1177\/154405910408300505"
}
],
"sequence": {
"length": 191,
"mass": 21603,
"checksum": "322C88DA3F7155DC",
"modified": {
"$date": {
"$numberLong": "815184000000"
}
},
"version": 1,
"sequence": "MGTWILFACLLGAAFAMPLPPHPGHPGYINFSYEVLTPLKWYQSIRPPYPSYGYEPMGGWLHHQIIPVLSQQHPPTHTLQPHHHIPVVPAQQPVIPQQPMMPVPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPVHPMQPLPPQPPLPPMFPMQPLPPMLPDLTLEAWPSTDKTKREEVD"
},
"existence": 0,
"relevance": 1,
"proteinID": 74626928
}
],
"singleCellExpressions": {
"cellSignificanceIndex": []
}
}