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AMELX

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GENERAL INFORMATION

Gene name

 AMELX

Gene description

 Amelogenin, X-linked

Protein class

 Disease related genes
Predicted secreted proteins

Predicted localization

 Secreted

Number of transcripts

 3
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

Summary

RNA cell category

 Not detected

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Not detected
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

GENE INFORMATION

Gene name

 AMELX (HGNC Symbol)

Synonyms

 AIH1, AMG

Description

 Amelogenin, X-linked (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 X

Cytoband

 p22.2

Chromosome location (bp)

 11293413 - 11300761

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000125363 (version 83.38)

Entrez gene

 265

UniProt

 Q99217 (UniProt - Evidence at protein level)

neXtProt

 NX_Q99217

Antibodypedia

 AMELX antibodies

PROTEIN BROWSER
AMELX-001
AMELX-002
AMELX-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
AMELX-001
ENSP00000370090
ENST00000380714
Q99217 [Direct mapping]
Amelogenin, X isoform
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Show all
GO:0001649 [osteoblast differentiation]
GO:0001837 [epithelial to mesenchymal transition]
GO:0002062 [chondrocyte differentiation]
GO:0005515 [protein binding]
GO:0005578 [proteinaceous extracellular matrix]
GO:0007155 [cell adhesion]
GO:0007165 [signal transduction]
GO:0007275 [multicellular organismal development]
GO:0008083 [growth factor activity]
GO:0008283 [cell proliferation]
GO:0009986 [cell surface]
GO:0030345 [structural constituent of tooth enamel]
GO:0031214 [biomineral tissue development]
GO:0032967 [positive regulation of collagen biosynthetic process]
GO:0034505 [tooth mineralization]
GO:0042475 [odontogenesis of dentin-containing tooth]
GO:0042802 [identical protein binding]
GO:0046848 [hydroxyapatite binding]
GO:0050801 [ion homeostasis]
GO:0070166 [enamel mineralization]
GO:0070172 [positive regulation of tooth mineralization]
Show all
 191 aa
21.6 kDa 		Yes 0
AMELX-002
ENSP00000370088
ENST00000380712
Q99217 [Direct mapping]
Amelogenin, X isoform
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Show all
GO:0001649 [osteoblast differentiation]
GO:0001837 [epithelial to mesenchymal transition]
GO:0002062 [chondrocyte differentiation]
GO:0005515 [protein binding]
GO:0005578 [proteinaceous extracellular matrix]
GO:0007155 [cell adhesion]
GO:0007165 [signal transduction]
GO:0007275 [multicellular organismal development]
GO:0008083 [growth factor activity]
GO:0008283 [cell proliferation]
GO:0009986 [cell surface]
GO:0030345 [structural constituent of tooth enamel]
GO:0031214 [biomineral tissue development]
GO:0032967 [positive regulation of collagen biosynthetic process]
GO:0034505 [tooth mineralization]
GO:0042475 [odontogenesis of dentin-containing tooth]
GO:0042802 [identical protein binding]
GO:0046848 [hydroxyapatite binding]
GO:0050801 [ion homeostasis]
GO:0070166 [enamel mineralization]
GO:0070172 [positive regulation of tooth mineralization]
Show all
 205 aa
23.1 kDa 		Yes 0
AMELX-201
ENSP00000335312
ENST00000348912
Q99217 [Direct mapping]
Amelogenin, X isoform
Show all
   MEMSAT3 predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Show all
GO:0001649 [osteoblast differentiation]
GO:0001837 [epithelial to mesenchymal transition]
GO:0002062 [chondrocyte differentiation]
GO:0005515 [protein binding]
GO:0005578 [proteinaceous extracellular matrix]
GO:0007155 [cell adhesion]
GO:0007165 [signal transduction]
GO:0007275 [multicellular organismal development]
GO:0008083 [growth factor activity]
GO:0008283 [cell proliferation]
GO:0009986 [cell surface]
GO:0030345 [structural constituent of tooth enamel]
GO:0031214 [biomineral tissue development]
GO:0032967 [positive regulation of collagen biosynthetic process]
GO:0034505 [tooth mineralization]
GO:0042475 [odontogenesis of dentin-containing tooth]
GO:0042802 [identical protein binding]
GO:0046848 [hydroxyapatite binding]
GO:0050801 [ion homeostasis]
GO:0070166 [enamel mineralization]
GO:0070172 [positive regulation of tooth mineralization]
Show all
 175 aa
19.8 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.