Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Amelogenin, X isoform

Gene

AMELX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel.

GO - Molecular functioni

  • growth factor activity Source: BHF-UCL
  • hydroxyapatite binding Source: BHF-UCL
  • identical protein binding Source: BHF-UCL
  • structural constituent of tooth enamel Source: BHF-UCL

GO - Biological processi

  • biomineral tissue development Source: BHF-UCL
  • cell adhesion Source: BHF-UCL
  • cell proliferation Source: BHF-UCL
  • chondrocyte differentiation Source: BHF-UCL
  • enamel mineralization Source: BHF-UCL
  • epithelial to mesenchymal transition Source: BHF-UCL
  • ion homeostasis Source: BHF-UCL
  • odontogenesis of dentin-containing tooth Source: BHF-UCL
  • osteoblast differentiation Source: BHF-UCL
  • positive regulation of collagen biosynthetic process Source: BHF-UCL
  • positive regulation of tooth mineralization Source: BHF-UCL
  • signal transduction Source: BHF-UCL
  • tooth mineralization Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Biomineralization

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125363-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Amelogenin, X isoform
Gene namesi
Name:AMELX
Synonyms:AMG, AMGX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:461. AMELX.

Subcellular locationi

GO - Cellular componenti

  • cell surface Source: BHF-UCL
  • proteinaceous extracellular matrix Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Amelogenesis imperfecta 1E (AI1E)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA X-linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness of the enamel makes the teeth appear small.
See also OMIM:301200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0375814W → S in AI1E. 1 PublicationCorresponds to variant rs104894738dbSNPEnsembl.1
Natural variantiVAR_0005595 – 8ILFA → T in AI1E. 1 Publication4
Natural variantiVAR_03758237T → I in AI1E. 1 PublicationCorresponds to variant rs104894733dbSNPEnsembl.1
Natural variantiVAR_03758356P → T in AI1E. 2 PublicationsCorresponds to variant rs104894736dbSNPEnsembl.1

Keywords - Diseasei

Amelogenesis imperfecta, Disease mutation

Organism-specific databases

DisGeNETi265.
MalaCardsiAMELX.
MIMi301200. phenotype.
OpenTargetsiENSG00000125363.
Orphaneti100033. Hypomaturation amelogenesis imperfecta.
PharmGKBiPA24766.

Polymorphism and mutation databases

BioMutaiAMELX.
DMDMi1168430.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 161 PublicationAdd BLAST16
ChainiPRO_000000119917 – 191Amelogenin, X isoformAdd BLAST175

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei32PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated by FAM20C in vitro.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PeptideAtlasiQ99217.
PRIDEiQ99217.
TopDownProteomicsiQ99217-2. [Q99217-2]

Miscellaneous databases

PMAP-CutDBQ99217.

Expressioni

Developmental stagei

Transiently but abundantly expressed by ameloblasts during tooth development. Amelogenin is the predominant protein in developing dental enamel.

Gene expression databases

BgeeiENSG00000125363.
CleanExiHS_AMELX.
GenevisibleiQ99217. HS.

Interactioni

GO - Molecular functioni

  • growth factor activity Source: BHF-UCL
  • identical protein binding Source: BHF-UCL

Protein-protein interaction databases

IntActiQ99217. 1 interactor.

Structurei

3D structure databases

ProteinModelPortaliQ99217.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the amelogenin family.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

GeneTreeiENSGT00390000009151.
HOGENOMiHOG000231643.
HOVERGENiHBG016835.
InParanoidiQ99217.
OMAiHSMTPTQ.
OrthoDBiEOG091G107T.
PhylomeDBiQ99217.
TreeFamiTF337092.

Family and domain databases

InterProiIPR004116. Amelogenin.
[Graphical view]
PfamiPF02948. Amelogenin. 1 hit.
[Graphical view]
PRINTSiPR01757. AMELOGENIN.
SMARTiSM00818. Amelogenin. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q99217-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGTWILFACL LGAAFAMPLP PHPGHPGYIN FSYEVLTPLK WYQSIRPPYP
60 70 80 90 100
SYGYEPMGGW LHHQIIPVLS QQHPPTHTLQ PHHHIPVVPA QQPVIPQQPM
110 120 130 140 150
MPVPGQHSMT PIQHHQPNLP PPAQQPYQPQ PVQPQPHQPM QPQPPVHPMQ
160 170 180 190
PLPPQPPLPP MFPMQPLPPM LPDLTLEAWP STDKTKREEV D
Length:191
Mass (Da):21,603
Last modified:November 1, 1995 - v1
Checksum:i322C88DA3F7155DC
GO
Isoform 2 (identifier: Q99217-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     19-34: Missing.

Show »
Length:175
Mass (Da):19,796
Checksum:i214D3018D9B50F1B
GO
Isoform 3 (identifier: Q99217-3) [UniParc]FASTAAdd to basket
Also known as: Rare

The sequence of this isoform differs from the canonical sequence as follows:
     34-34: E → ENSHSQAINVDRTAL

Show »
Length:205
Mass (Da):23,111
Checksum:i535F5454018E3D6E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti50 – 51PS → SP AA sequence (PubMed:2509010).Curated2
Sequence conflicti173D → H AA sequence (PubMed:8254123).Curated1
Sequence conflicti191D → VSIF in AAA62826 (PubMed:2004775).Curated1
Sequence conflicti191D → VSIF in CAA32613 (PubMed:2004775).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0375814W → S in AI1E. 1 PublicationCorresponds to variant rs104894738dbSNPEnsembl.1
Natural variantiVAR_0005595 – 8ILFA → T in AI1E. 1 Publication4
Natural variantiVAR_03758237T → I in AI1E. 1 PublicationCorresponds to variant rs104894733dbSNPEnsembl.1
Natural variantiVAR_03758356P → T in AI1E. 2 PublicationsCorresponds to variant rs104894736dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00022819 – 34Missing in isoform 2. CuratedAdd BLAST16
Alternative sequenceiVSP_00022934E → ENSHSQAINVDRTAL in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M86932 mRNA. Translation: AAA51717.1.
AF436849 mRNA. Translation: AAL30432.1.
AY040206 Genomic DNA. Translation: AAK77213.1.
AC002366 Genomic DNA. Translation: AAC21581.1.
BC074951 mRNA. Translation: AAH74951.1.
M55418 Genomic DNA. Translation: AAA62826.1.
X14440 Genomic DNA. Translation: CAA32613.1.
S67147 mRNA. Translation: AAB29184.1.
CCDSiCCDS14144.1. [Q99217-1]
CCDS14145.1. [Q99217-3]
CCDS14146.1. [Q99217-2]
PIRiB41816. A41816.
RefSeqiNP_001133.1. NM_001142.2. [Q99217-1]
NP_872621.1. NM_182680.1. [Q99217-3]
NP_872622.1. NM_182681.1. [Q99217-2]
UniGeneiHs.654436.

Genome annotation databases

EnsembliENST00000348912; ENSP00000335312; ENSG00000125363. [Q99217-2]
ENST00000380712; ENSP00000370088; ENSG00000125363. [Q99217-3]
ENST00000380714; ENSP00000370090; ENSG00000125363. [Q99217-1]
GeneIDi265.
KEGGihsa:265.
UCSCiuc004cus.3. human. [Q99217-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M86932 mRNA. Translation: AAA51717.1.
AF436849 mRNA. Translation: AAL30432.1.
AY040206 Genomic DNA. Translation: AAK77213.1.
AC002366 Genomic DNA. Translation: AAC21581.1.
BC074951 mRNA. Translation: AAH74951.1.
M55418 Genomic DNA. Translation: AAA62826.1.
X14440 Genomic DNA. Translation: CAA32613.1.
S67147 mRNA. Translation: AAB29184.1.
CCDSiCCDS14144.1. [Q99217-1]
CCDS14145.1. [Q99217-3]
CCDS14146.1. [Q99217-2]
PIRiB41816. A41816.
RefSeqiNP_001133.1. NM_001142.2. [Q99217-1]
NP_872621.1. NM_182680.1. [Q99217-3]
NP_872622.1. NM_182681.1. [Q99217-2]
UniGeneiHs.654436.

3D structure databases

ProteinModelPortaliQ99217.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ99217. 1 interactor.

Polymorphism and mutation databases

BioMutaiAMELX.
DMDMi1168430.

Proteomic databases

PeptideAtlasiQ99217.
PRIDEiQ99217.
TopDownProteomicsiQ99217-2. [Q99217-2]

Protocols and materials databases

DNASUi265.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000348912; ENSP00000335312; ENSG00000125363. [Q99217-2]
ENST00000380712; ENSP00000370088; ENSG00000125363. [Q99217-3]
ENST00000380714; ENSP00000370090; ENSG00000125363. [Q99217-1]
GeneIDi265.
KEGGihsa:265.
UCSCiuc004cus.3. human. [Q99217-1]

Organism-specific databases

CTDi265.
DisGeNETi265.
GeneCardsiAMELX.
H-InvDBHIX0176766.
HGNCiHGNC:461. AMELX.
MalaCardsiAMELX.
MIMi300391. gene.
301200. phenotype.
neXtProtiNX_Q99217.
OpenTargetsiENSG00000125363.
Orphaneti100033. Hypomaturation amelogenesis imperfecta.
PharmGKBiPA24766.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000009151.
HOGENOMiHOG000231643.
HOVERGENiHBG016835.
InParanoidiQ99217.
OMAiHSMTPTQ.
OrthoDBiEOG091G107T.
PhylomeDBiQ99217.
TreeFamiTF337092.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125363-MONOMER.

Miscellaneous databases

GeneWikiiAMELX.
GenomeRNAii265.
PMAP-CutDBQ99217.
PROiQ99217.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125363.
CleanExiHS_AMELX.
GenevisibleiQ99217. HS.

Family and domain databases

InterProiIPR004116. Amelogenin.
[Graphical view]
PfamiPF02948. Amelogenin. 1 hit.
[Graphical view]
PRINTSiPR01757. AMELOGENIN.
SMARTiSM00818. Amelogenin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAMELX_HUMAN
AccessioniPrimary (citable) accession number: Q99217
Secondary accession number(s): Q96NW6, Q9UCA7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 1, 1995
Last modified: November 30, 2016
This is version 157 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.