AMELX

Protein identityUniProt · HPA

UniProt accession

Q99217

Gene

AMELX

Ensembl

ENSG00000125363

Chromosome

X

Canonical length

191 aa

Protein class

Disease related genes, Human disease related genes, Predicted secreted proteins

Secretome location

Secreted in other tissues

OverviewNCBI Gene

This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

191 residues, UniProt reviewed canonical sequence.

>Q99217|AMELX
     1  MGTWILFACL LGAAFAMPLP PHPGHPGYIN FSYEVLTPLK WYQSIRPPYP SYGYEPMGGW
    61  LHHQIIPVLS QQHPPTHTLQ PHHHIPVVPA QQPVIPQQPM MPVPGQHSMT PIQHHQPNLP
   121  PPAQQPYQPQ PVQPQPHQPM QPQPPVHPMQ PLPPQPPLPP MFPMQPLPPM LPDLTLEAWP
   181  STDKTKREEV D

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AMELX can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.69

Highest tissue expression

0.3 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AMELX.

Disease | AllUniProt

Conditions AMELX is implicated in, by any mechanism.

• Amelogenesis imperfecta 1E (AI1E) MIM:301200

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 68 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Amelogenesis imperfecta type 1E
• Amelogenesis imperfecta
• AMELX-related disorder
• Amelogenesis imperfecta, type 1E, with snow-capped teeth

Disease | ImmuneIEDB

Conditions an epitope on AMELX was assayed in.

• celiac disease B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.95

gnomAD pLI

0.07

gnomAD missense Z

0.96

DepMap mean gene effect

-0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• amelogenesis
• biomineral tissue development
• cell adhesion
• chondrocyte differentiation
• enamel mineralization
• epithelial to mesenchymal transition
• odontogenesis of dentin-containing tooth
• osteoblast differentiation
• positive regulation of collagen biosynthetic process
• positive regulation of tooth mineralization
• regulation of cell population proliferation
• response to calcium ion
• response to nutrient
• response to xenobiotic stimulus
• signal transduction
• tooth mineralization

Molecular functions

• calcium ion binding
• growth factor activity
• hydroxyapatite binding
• identical protein binding
• protein homodimerization activity
• sodium ion binding
• structural constituent of tooth enamel

Cellular components

• basement membrane
• cell surface
• endocytic vesicle
• endoplasmic reticulum lumen
• extracellular matrix
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Amelogenin
• Amelogenin

KeywordsUniProt

• Amelogenesis imperfecta
• Biomineralization
• Extracellular matrix
• Phosphoprotein
• Repeat
• Secreted
• Signal

InteractionsUniProt · HPA

Protein binding partners of AMELX in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• KRT5