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Q99218

- AMELY_HUMAN

UniProt

Q99218 - AMELY_HUMAN

Protein

Amelogenin, Y isoform

Gene

AMELY

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 2 (24 Jan 2006)
      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. structural constituent of tooth enamel Source: BHF-UCL

    GO - Biological processi

    1. biomineral tissue development Source: UniProtKB-KW

    Keywords - Biological processi

    Biomineralization

    Enzyme and pathway databases

    SignaLinkiQ99218.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Amelogenin, Y isoform
    Gene namesi
    Name:AMELY
    Synonyms:AMGL, AMGY
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome Y

    Organism-specific databases

    HGNCiHGNC:462. AMELY.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular matrix Source: BHF-UCL
    2. proteinaceous extracellular matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24767.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1616By similarityAdd
    BLAST
    Chaini17 – 206190Amelogenin, Y isoformPRO_0000001200Add
    BLAST

    Proteomic databases

    PaxDbiQ99218.
    PRIDEiQ99218.

    Miscellaneous databases

    PMAP-CutDBQ99218.

    Expressioni

    Developmental stagei

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

    Gene expression databases

    ArrayExpressiQ99218.
    CleanExiHS_AMELY.
    GenevestigatoriQ99218.

    Organism-specific databases

    HPAiHPA005988.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000215479.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99218.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi86 – 17085Gln-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the amelogenin family.Curated

    Keywords - Domaini

    Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG69988.
    HOGENOMiHOG000231643.
    HOVERGENiHBG016835.
    InParanoidiQ99218.
    OMAiHLEAWPA.
    OrthoDBiEOG7JQBQ8.
    PhylomeDBiQ99218.
    TreeFamiTF337092.

    Family and domain databases

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

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 2 (identifier: Q99218-2) [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.

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    MGTWILFACL VGAAFAMPLP PHPGHPGYIN FSYENSHSQA INVDRIALVL    50
    TPLKWYQSMI RPPYSSYGYE PMGGWLHHQI IPVVSQQHPL THTLQSHHHI 100
    PVVPAQQPRV RQQALMPVPG QQSMTPTQHH QPNLPLPAQQ PFQPQPVQPQ 150
    PHQPMQPQPP VQPMQPLLPQ PPLPPMFPLR PLPPILPDLH LEAWPATDKT 200
    KQEEVD 206
    Length:206
    Mass (Da):23,250
    Last modified:January 24, 2006 - v2
    Checksum:i9324AB50546DB4D5
    GO
    Isoform 1 (identifier: Q99218-1) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         35-48: Missing.

    Show »
    Length:192
    Mass (Da):21,730
    Checksum:i978508D0C9418378
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti31 – 311F → L in AAR39431. 1 PublicationCurated
    Sequence conflicti206 – 2061D → VSTP in AAA62827. (PubMed:2004775)Curated
    Sequence conflicti206 – 2061D → VSTP in CAA32612. (PubMed:2004775)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei35 – 4814Missing in isoform 1. 2 PublicationsVSP_017077Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M86933 mRNA. Translation: AAA51718.1.
    AY487421 mRNA. Translation: AAR39431.1.
    BC069138 mRNA. Translation: AAH69138.1.
    BC074976 mRNA. Translation: AAH74976.1.
    BC074977 mRNA. Translation: AAH74977.1.
    M55419 Genomic DNA. Translation: AAA62827.1.
    X14439 Genomic DNA. Translation: CAA32612.1.
    CCDSiCCDS14778.1. [Q99218-1]
    PIRiF41816.
    RefSeqiNP_001134.1. NM_001143.1. [Q99218-1]
    UniGeneiHs.1238.

    Genome annotation databases

    EnsembliENST00000215479; ENSP00000215479; ENSG00000099721. [Q99218-1]
    ENST00000383036; ENSP00000372505; ENSG00000099721. [Q99218-2]
    GeneIDi266.
    KEGGihsa:266.
    UCSCiuc004fqz.3. human. [Q99218-1]
    uc004fra.1. human. [Q99218-2]

    Polymorphism databases

    DMDMi85681286.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M86933 mRNA. Translation: AAA51718.1 .
    AY487421 mRNA. Translation: AAR39431.1 .
    BC069138 mRNA. Translation: AAH69138.1 .
    BC074976 mRNA. Translation: AAH74976.1 .
    BC074977 mRNA. Translation: AAH74977.1 .
    M55419 Genomic DNA. Translation: AAA62827.1 .
    X14439 Genomic DNA. Translation: CAA32612.1 .
    CCDSi CCDS14778.1. [Q99218-1 ]
    PIRi F41816.
    RefSeqi NP_001134.1. NM_001143.1. [Q99218-1 ]
    UniGenei Hs.1238.

    3D structure databases

    ProteinModelPortali Q99218.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000215479.

    Polymorphism databases

    DMDMi 85681286.

    Proteomic databases

    PaxDbi Q99218.
    PRIDEi Q99218.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000215479 ; ENSP00000215479 ; ENSG00000099721 . [Q99218-1 ]
    ENST00000383036 ; ENSP00000372505 ; ENSG00000099721 . [Q99218-2 ]
    GeneIDi 266.
    KEGGi hsa:266.
    UCSCi uc004fqz.3. human. [Q99218-1 ]
    uc004fra.1. human. [Q99218-2 ]

    Organism-specific databases

    CTDi 266.
    GeneCardsi GC0YM006777.
    HGNCi HGNC:462. AMELY.
    HPAi HPA005988.
    MIMi 410000. gene.
    neXtProti NX_Q99218.
    PharmGKBi PA24767.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG69988.
    HOGENOMi HOG000231643.
    HOVERGENi HBG016835.
    InParanoidi Q99218.
    OMAi HLEAWPA.
    OrthoDBi EOG7JQBQ8.
    PhylomeDBi Q99218.
    TreeFami TF337092.

    Enzyme and pathway databases

    SignaLinki Q99218.

    Miscellaneous databases

    GeneWikii AMELY.
    GenomeRNAii 266.
    NextBioi 1045.
    PMAP-CutDB Q99218.
    PROi Q99218.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99218.
    CleanExi HS_AMELY.
    Genevestigatori Q99218.

    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. Lin L., Zhong G., Li H., Ke R., Shen C., Zhou G., Yang S.
      Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    3. "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).
    4. "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 19-206 (ISOFORM 2).

    Entry informationi

    Entry nameiAMELY_HUMAN
    AccessioniPrimary (citable) accession number: Q99218
    Secondary accession number(s): Q6RWT1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: January 24, 2006
    Last modified: October 1, 2014
    This is version 123 of the entry and version 2 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, Reference proteome

    Documents

    1. Human chromosome Y
      Human chromosome Y: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3