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Q99217

- AMELX_HUMAN

UniProt

Q99217 - AMELX_HUMAN

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Protein

Amelogenin, X isoform

Gene

AMELX

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. growth factor activity Source: BHF-UCL
  2. hydroxyapatite binding Source: BHF-UCL
  3. identical protein binding Source: BHF-UCL
  4. structural constituent of tooth enamel Source: BHF-UCL

GO - Biological processi

  1. biomineral tissue development Source: BHF-UCL
  2. cell adhesion Source: BHF-UCL
  3. cell proliferation Source: BHF-UCL
  4. chondrocyte differentiation Source: BHF-UCL
  5. enamel mineralization Source: BHF-UCL
  6. epithelial to mesenchymal transition Source: BHF-UCL
  7. ion homeostasis Source: BHF-UCL
  8. odontogenesis of dentin-containing tooth Source: BHF-UCL
  9. osteoblast differentiation Source: BHF-UCL
  10. positive regulation of collagen biosynthetic process Source: BHF-UCL
  11. positive regulation of tooth mineralization Source: BHF-UCL
  12. signal transduction Source: BHF-UCL
  13. tooth mineralization Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Biomineralization

Names & Taxonomyi

Protein namesi
Recommended name:
Amelogenin, X isoform
Gene namesi
Name:AMELX
Synonyms:AMG, AMGX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:461. AMELX.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Amelogenesis imperfecta 1E (AI1E) [MIM:301200]: A 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.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41W → S in AI1E. 1 Publication
VAR_037581
Natural varianti5 – 84ILFA → T in AI1E. 1 Publication
VAR_000559
Natural varianti37 – 371T → I in AI1E. 1 Publication
VAR_037582
Natural varianti56 – 561P → T in AI1E. 2 Publications
VAR_037583

Keywords - Diseasei

Amelogenesis imperfecta, Disease mutation

Organism-specific databases

MIMi301200. phenotype.
Orphaneti100033. Hypomaturation amelogenesis imperfecta.
PharmGKBiPA24766.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 16161 PublicationAdd
BLAST
Chaini17 – 191175Amelogenin, X isoformPRO_0000001199Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei32 – 321PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PRIDEiQ99217.

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

BgeeiQ99217.
CleanExiHS_AMELX.
ExpressionAtlasiQ99217. baseline.
GenevestigatoriQ99217.

Organism-specific databases

HPAiHPA005988.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000370088.

Structurei

3D structure databases

ProteinModelPortaliQ99217.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the amelogenin family.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiNOG69988.
GeneTreeiENSGT00390000009151.
HOGENOMiHOG000231643.
HOVERGENiHBG016835.
InParanoidiQ99217.
OMAiHSMTPTQ.
OrthoDBiEOG7JQBQ8.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti50 – 512PS → SP AA sequence (PubMed:2509010)Curated
Sequence conflicti173 – 1731D → H AA sequence (PubMed:8254123)Curated
Sequence conflicti191 – 1911D → VSIF in AAA62826. (PubMed:2004775)Curated
Sequence conflicti191 – 1911D → VSIF in CAA32613. (PubMed:2004775)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41W → S in AI1E. 1 Publication
VAR_037581
Natural varianti5 – 84ILFA → T in AI1E. 1 Publication
VAR_000559
Natural varianti37 – 371T → I in AI1E. 1 Publication
VAR_037582
Natural varianti56 – 561P → T in AI1E. 2 Publications
VAR_037583

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei19 – 3416Missing in isoform 2. CuratedVSP_000228Add
BLAST
Alternative sequencei34 – 341E → ENSHSQAINVDRTAL in isoform 3. 1 PublicationVSP_000229

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. [Q99217-3]
uc004cut.3. human. [Q99217-1]
uc004cuu.3. human. [Q99217-2]

Polymorphism databases

DMDMi1168430.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS14144.1. [Q99217-1 ]
CCDS14145.1. [Q99217-3 ]
CCDS14146.1. [Q99217-2 ]
PIRi B41816. A41816.
RefSeqi NP_001133.1. NM_001142.2. [Q99217-1 ]
NP_872621.1. NM_182680.1. [Q99217-3 ]
NP_872622.1. NM_182681.1. [Q99217-2 ]
UniGenei Hs.654436.

3D structure databases

ProteinModelPortali Q99217.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000370088.

Polymorphism databases

DMDMi 1168430.

Proteomic databases

PRIDEi Q99217.

Protocols and materials databases

DNASUi 265.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000348912 ; ENSP00000335312 ; ENSG00000125363 . [Q99217-2 ]
ENST00000380712 ; ENSP00000370088 ; ENSG00000125363 . [Q99217-3 ]
ENST00000380714 ; ENSP00000370090 ; ENSG00000125363 . [Q99217-1 ]
GeneIDi 265.
KEGGi hsa:265.
UCSCi uc004cus.3. human. [Q99217-3 ]
uc004cut.3. human. [Q99217-1 ]
uc004cuu.3. human. [Q99217-2 ]

Organism-specific databases

CTDi 265.
GeneCardsi GC0XP011221.
H-InvDB HIX0176766.
HGNCi HGNC:461. AMELX.
HPAi HPA005988.
MIMi 300391. gene.
301200. phenotype.
neXtProti NX_Q99217.
Orphaneti 100033. Hypomaturation amelogenesis imperfecta.
PharmGKBi PA24766.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG69988.
GeneTreei ENSGT00390000009151.
HOGENOMi HOG000231643.
HOVERGENi HBG016835.
InParanoidi Q99217.
OMAi HSMTPTQ.
OrthoDBi EOG7JQBQ8.
PhylomeDBi Q99217.
TreeFami TF337092.

Miscellaneous databases

GeneWikii AMELX.
GenomeRNAii 265.
NextBioi 1037.
PMAP-CutDB Q99217.
PROi Q99217.
SOURCEi Search...

Gene expression databases

Bgeei Q99217.
CleanExi HS_AMELX.
ExpressionAtlasi Q99217. baseline.
Genevestigatori Q99217.

Family and domain databases

InterProi IPR004116. Amelogenin.
[Graphical view ]
Pfami PF02948. Amelogenin. 1 hit.
[Graphical view ]
PRINTSi PR01757. AMELOGENIN.
SMARTi SM00818. Amelogenin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes."
    Salido E.C., Yen P.H., Koprivnikar K., Yu L.-C., Shapiro L.J.
    Am. J. Hum. Genet. 50:303-316(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Tooth bud.
  2. "A nomenclature for X-linked amelogenesis imperfecta."
    Hart P.S., Hart T.C., Simmer J.P., Wright J.T.
    Arch. Oral Biol. 47:255-260(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3).
  3. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  5. Cited for: PROTEIN SEQUENCE OF 17-60.
  6. "Production of a monoclonal antibody against human amelogenin."
    Catalano-Sherman J., Laskov R., Palmon A., David S., Deutsch D.
    Calcif. Tissue Int. 54:76-80(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 17-37.
  7. "A human X-Y homologous region encodes 'amelogenin'."
    Nakahori Y., Takenaka O., Nakagome Y.
    Genomics 9:264-269(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 19-191 (ISOFORM 1).
  8. "Amino acid sequence of a major human amelogenin protein employing Edman degradation and cDNA sequencing."
    Catalano-Sherman J., Palmon A., Burstein Y., Deutsch D.
    J. Dent. Res. 72:1566-1572(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 49-190, PARTIAL PROTEIN SEQUENCE.
    Tissue: Tooth bud.
  9. "Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta."
    Lagerstroem-Fermer M., Nilddon M., Baeckman B., Salido E., Shapiro L., Pettersson U., Landergren U.
    Genomics 26:159-162(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AI1E 5-ILE--ALA-8 DELINS THR.
  10. "Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1)."
    Lench N.J., Winter G.B.
    Hum. Mutat. 5:251-259(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AI1E ILE-37.
  11. "Mutational analysis of X-linked amelogenesis imperfecta in multiple families."
    Hart S., Hart T., Gibson C., Wright J.T.
    Arch. Oral Biol. 45:79-86(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AI1E THR-56.
  12. "An amelogenin gene defect associated with human X-linked amelogenesis imperfecta."
    Collier P.M., Sauk J.J., Rosenbloom S.J., Yuan Z.A., Gibson C.W.
    Arch. Oral Biol. 42:235-242(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AI1E THR-56.
  13. "Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta."
    Kim J.-W., Simmer J.P., Hu Y.Y., Lin B.P.-L., Boyd C., Wright J.T., Yamada C.J.M., Rayes S.K., Feigal R.J., Hu J.C.-C.
    J. Dent. Res. 83:378-383(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AI1E SER-4.

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: October 29, 2014
This is version 140 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

External Data

Dasty 3