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Q99217

- AMELX_HUMAN

UniProt

Q99217 - AMELX_HUMAN

Protein

Amelogenin, X isoform

Gene

AMELX

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 1 (01 Nov 1995)
      Previous versions | rss
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    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. protein binding Source: BHF-UCL
    5. 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

    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

    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

    ArrayExpressiQ99217.
    BgeeiQ99217.
    CleanExiHS_AMELX.
    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.
    HOGENOMiHOG000231643.
    HOVERGENiHBG016835.
    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

    MGTWILFACL LGAAFAMPLP PHPGHPGYIN FSYEVLTPLK WYQSIRPPYP    50
    SYGYEPMGGW LHHQIIPVLS QQHPPTHTLQ PHHHIPVVPA QQPVIPQQPM 100
    MPVPGQHSMT PIQHHQPNLP PPAQQPYQPQ PVQPQPHQPM QPQPPVHPMQ 150
    PLPPQPPLPP MFPMQPLPPM LPDLTLEAWP STDKTKREEV D 191
    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.
    HOGENOMi HOG000231643.
    HOVERGENi HBG016835.
    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

    ArrayExpressi Q99217.
    Bgeei Q99217.
    CleanExi HS_AMELX.
    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

    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 1, 2014
    This is version 139 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