AMELX | ENSG00000125363 | NCBI 265

Details for: AMELX

Gene ID: 265

Symbol: AMELX

Ensembl ID: ENSG00000125363

Description: amelogenin X-linked

Associated with

Metabolism of proteins
(R-HSA-392499)
Post-translational protein modification
(R-HSA-597592)
Post-translational protein phosphorylation
(R-HSA-8957275)
Regulation of insulin-like growth factor (igf) transport and uptake by insulin-like growth factor binding proteins (igfbps)
(R-HSA-381426)
Amelogenesis
(GO:0097186)
Biomineral tissue development
(GO:0031214)
Cell adhesion
(GO:0007155)
Cell surface
(GO:0009986)
Chondrocyte differentiation
(GO:0002062)
Collagen-containing extracellular matrix
(GO:0062023)
Enamel mineralization
(GO:0070166)
Endocytic vesicle
(GO:0030139)
Endoplasmic reticulum lumen
(GO:0005788)
Epithelial to mesenchymal transition
(GO:0001837)
Extracellular region
(GO:0005576)
Growth factor activity
(GO:0008083)
Hydroxyapatite binding
(GO:0046848)
Identical protein binding
(GO:0042802)
Odontogenesis of dentin-containing tooth
(GO:0042475)
Osteoblast differentiation
(GO:0001649)
Positive regulation of collagen biosynthetic process
(GO:0032967)
Positive regulation of tooth mineralization
(GO:0070172)
Protein binding
(GO:0005515)
Regulation of cell population proliferation
(GO:0042127)
Response to calcium ion
(GO:0051592)
Response to nutrient
(GO:0007584)
Response to xenobiotic stimulus
(GO:0009410)
Signal transduction
(GO:0007165)
Structural constituent of tooth enamel
(GO:0030345)
Tooth mineralization
(GO:0034505)

Other Information

Proteins

Amelogenin, X isoform

Genular Protein ID: 74626928

Symbol: AMELX_HUMAN

Name: Amelogenin, X isoform

UniProtKB Accession Codes:

Q99217 Q96NW6 Q9UCA7

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

DOI: 10.1016/s0003-9969(02)00005-5

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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

Title: Human amelogenins: sequences of 'TRAP' molecules.

PubMed ID: 2509010

DOI: 10.1007/bf02556044

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

DOI: 10.1016/0888-7543(91)90251-9

PubMed ID: 8254123

Title: Amino acid sequence of a major human amelogenin protein employing Edman degradation and cDNA sequencing.

PubMed ID: 8254123

DOI: 10.1177/00220345930720120601

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

DOI: 10.1016/0888-7543(95)80097-6

PubMed ID: 7599636

Title: Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1).

PubMed ID: 7599636

DOI: 10.1002/humu.1380050310

PubMed ID: 10669095

Title: Mutational analysis of X-linked amelogenesis imperfecta in multiple families.

PubMed ID: 10669095

DOI: 10.1016/s0003-9969(99)00106-5

PubMed ID: 9188994

Title: An amelogenin gene defect associated with human X-linked amelogenesis imperfecta.

PubMed ID: 9188994

DOI: 10.1016/s0003-9969(96)00099-4

PubMed ID: 15111628

Title: Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta.

PubMed ID: 15111628

DOI: 10.1177/154405910408300505

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

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: AMELX

Associated with

Other Information

The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. PubMed ID: 1734713

A nomenclature for X-linked amelogenesis imperfecta. PubMed ID: 11922868

The DNA sequence of the human X chromosome. PubMed ID: 15772651

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Human amelogenins: sequences of 'TRAP' molecules. PubMed ID: 2509010

Production of a monoclonal antibody against human amelogenin. PubMed ID: 8118759

A human X-Y homologous region encodes 'amelogenin'. PubMed ID: 2004775

Amino acid sequence of a major human amelogenin protein employing Edman degradation and cDNA sequencing. PubMed ID: 8254123

A secretory kinase complex regulates extracellular protein phosphorylation. PubMed ID: 25789606

Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. PubMed ID: 7782077

Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1). PubMed ID: 7599636

Mutational analysis of X-linked amelogenesis imperfecta in multiple families. PubMed ID: 10669095

An amelogenin gene defect associated with human X-linked amelogenesis imperfecta. PubMed ID: 9188994

Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. PubMed ID: 15111628