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Protein

Amelogenin, X isoform

Gene

AMELX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processBiomineralization

Enzyme and pathway databases

ReactomeiR-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation

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

EuPathDBiHostDB:ENSG00000125363.14
HGNCiHGNC:461 AMELX
MIMi300391 gene
neXtProtiNX_Q99217

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs104894738EnsemblClinVar.1
Natural variantiVAR_0005595 – 8ILFA → T in AI1E. 1 Publication4
Natural variantiVAR_03758237T → I in AI1E. 1 PublicationCorresponds to variant dbSNP:rs104894733Ensembl.1
Natural variantiVAR_03758356P → T in AI1E. 2 PublicationsCorresponds to variant dbSNP:rs104894736Ensembl.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
ProteomicsDBi78248
78249 [Q99217-2]
78250 [Q99217-3]
TopDownProteomicsiQ99217-2 [Q99217-2]

Miscellaneous databases

PMAP-CutDBiQ99217

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 Expressed in 27 organ(s), highest expression level in frontal cortex
CleanExiHS_AMELX
GenevisibleiQ99217 HS

Interactioni

GO - Molecular functioni

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
OMAiQHSMTPT
OrthoDBiEOG091G107T
PhylomeDBiQ99217
TreeFamiTF337092

Family and domain databases

InterProiView protein in InterPro
IPR004116 Amelogenin
PfamiView protein in Pfam
PF02948 Amelogenin, 1 hit
PRINTSiPR01757 AMELOGENIN
SMARTiView protein in SMART
SM00818 Amelogenin, 1 hit

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 dbSNP:rs104894738EnsemblClinVar.1
Natural variantiVAR_0005595 – 8ILFA → T in AI1E. 1 Publication4
Natural variantiVAR_03758237T → I in AI1E. 1 PublicationCorresponds to variant dbSNP:rs104894733Ensembl.1
Natural variantiVAR_03758356P → T in AI1E. 2 PublicationsCorresponds to variant dbSNP:rs104894736Ensembl.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

Similar proteinsi

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
ProteomicsDBi78248
78249 [Q99217-2]
78250 [Q99217-3]
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
EuPathDBiHostDB:ENSG00000125363.14
GeneCardsiAMELX
H-InvDBiHIX0176766
HGNCiHGNC:461 AMELX
MalaCardsiAMELX
MIMi300391 gene
301200 phenotype
neXtProtiNX_Q99217
OpenTargetsiENSG00000125363
Orphaneti100033 Hypomaturation amelogenesis imperfecta
PharmGKBiPA24766
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000009151
HOGENOMiHOG000231643
HOVERGENiHBG016835
InParanoidiQ99217
OMAiQHSMTPT
OrthoDBiEOG091G107T
PhylomeDBiQ99217
TreeFamiTF337092

Enzyme and pathway databases

ReactomeiR-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation

Miscellaneous databases

GeneWikiiAMELX
GenomeRNAii265
PMAP-CutDBiQ99217
PROiPR:Q99217
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125363 Expressed in 27 organ(s), highest expression level in frontal cortex
CleanExiHS_AMELX
GenevisibleiQ99217 HS

Family and domain databases

InterProiView protein in InterPro
IPR004116 Amelogenin
PfamiView protein in Pfam
PF02948 Amelogenin, 1 hit
PRINTSiPR01757 AMELOGENIN
SMARTiView protein in SMART
SM00818 Amelogenin, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAMELX_HUMAN
AccessioniPrimary (citable) accession number: Q99217
Secondary accession number(s): Q96NW6, Q9UCA7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 1, 1995
Last modified: November 7, 2018
This is version 166 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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