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AMELX amelogenin X-linked [ Homo sapiens (human) ]

Gene ID: 265, updated on 21-Oct-2018

Summary

Official Symbol
AMELXprovided by HGNC
Official Full Name
amelogenin X-linkedprovided by HGNC
Primary source
HGNC:HGNC:461
See related
Ensembl:ENSG00000125363 MIM:300391; Vega:OTTHUMG00000021130
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AMG; AI1E; AIH1; ALGN; AMGL; AMGX
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See AMELX in Genome Data Viewer
Location:
Xp22.2
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (11293413..11304149)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (11311533..11318881)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene holocytochrome c synthase Neighboring gene Rho GTPase activating protein 6 Neighboring gene uncharacterized LOC107985627 Neighboring gene glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) pseudogene Neighboring gene microRNA 548ax

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
growth factor activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
hydroxyapatite binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of tooth enamel IDA
Inferred from Direct Assay
more info
PubMed 
structural constituent of tooth enamel IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
biomineral tissue development TAS
Traceable Author Statement
more info
PubMed 
cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enamel mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
odontogenesis of dentin-containing tooth ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of collagen biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of tooth mineralization TAS
Traceable Author Statement
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
response to calcium ion IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
tooth mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
tooth mineralization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cell surface ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
endocytic vesicle IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
amelogenin, X isoform
Names
amelogenin (X chromosome, amelogenesis imperfecta 1)
amelogenin (amelogenesis imperfecta 1, X-linked)

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012040.1 RefSeqGene

    Range
    5001..12349
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142.2NP_001133.1  amelogenin, X isoform isoform 1 precursor

    See identical proteins and their annotated locations for NP_001133.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an in-frame exon in the coding region, compared to variant 3. Isoform 1 is shorter than isoform 3 and is the most abundant isoform of this protein.
    Source sequence(s)
    M86932
    Consensus CDS
    CCDS14144.1
    UniProtKB/Swiss-Prot
    Q99217
    Related
    ENSP00000370090.3, OTTHUMP00000022906, ENST00000380714.7, OTTHUMT00000055746
    Conserved Domains (1) summary
    smart00818
    Location:28191
    Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
  2. NM_182680.1NP_872621.1  amelogenin, X isoform isoform 3

    See identical proteins and their annotated locations for NP_872621.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AF436849
    Consensus CDS
    CCDS14145.1
    UniProtKB/Swiss-Prot
    Q99217
    Related
    ENSP00000370088.3, OTTHUMP00000022907, ENST00000380712.7, OTTHUMT00000055747
    Conserved Domains (1) summary
    smart00818
    Location:28205
    Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
  3. NM_182681.1NP_872622.1  amelogenin, X isoform isoform 2

    See identical proteins and their annotated locations for NP_872622.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two in-frame exons in the coding region, compared to variant 3. Isoform 2 is shorter than isoform 3.
    Source sequence(s)
    AC002366
    Consensus CDS
    CCDS14146.1
    UniProtKB/Swiss-Prot
    Q99217
    Related
    ENSP00000335312.5, ENST00000348912.4
    Conserved Domains (1) summary
    smart00818
    Location:15175
    Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    11293413..11304149
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029404.2XP_016884893.1  amelogenin, X isoform isoform X1

    Conserved Domains (1) summary
    smart00818
    Location:28190
    Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
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