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Protein

Amelogenin, Y isoform

Gene

AMELY

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

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • structural constituent of tooth enamel Source: BHF-UCL

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processBiomineralization

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q99218

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Amelogenin, Y isoform
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AMELY
Synonyms:AMGL, AMGY
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome Y

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000099721.13

Human Gene Nomenclature Database

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HGNCi
HGNC:462 AMELY

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
410000 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q99218

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
266

Open Targets

More...
OpenTargetsi
ENSG00000099721

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24767

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AMELY

Domain mapping of disease mutations (DMDM)

More...
DMDMi
85681286

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 16By similarityAdd BLAST16
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000120017 – 206Amelogenin, Y isoformAdd BLAST190

Proteomic databases

PRoteomics IDEntifications database

More...
PRIDEi
Q99218

ProteomicsDB human proteome resource

More...
ProteomicsDBi
78251
78252 [Q99218-1]

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
Q99218

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000099721 Expressed in 13 organ(s), highest expression level in thyroid gland

CleanEx database of gene expression profiles

More...
CleanExi
HS_AMELY

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q99218 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
Q99218, 1 interactor

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q99218

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi86 – 170Gln-richAdd BLAST85

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the amelogenin family.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000167104

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231643

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG016835

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q99218

Identification of Orthologs from Complete Genome Data

More...
OMAi
WPATDRT

Database of Orthologous Groups

More...
OrthoDBi
EOG091G107T

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q99218

TreeFam database of animal gene trees

More...
TreeFami
TF337092

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR004116 Amelogenin

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02948 Amelogenin, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01757 AMELOGENIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00818 Amelogenin, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
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.

« Hide
        10         20         30         40         50
MGTWILFACL VGAAFAMPLP PHPGHPGYIN FSYENSHSQA INVDRIALVL
60 70 80 90 100
TPLKWYQSMI RPPYSSYGYE PMGGWLHHQI IPVVSQQHPL THTLQSHHHI
110 120 130 140 150
PVVPAQQPRV RQQALMPVPG QQSMTPTQHH QPNLPLPAQQ PFQPQPVQPQ
160 170 180 190 200
PHQPMQPQPP VQPMQPLLPQ PPLPPMFPLR PLPPILPDLH LEAWPATDKT

KQEEVD
Length:206
Mass (Da):23,250
Last modified:January 24, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti31F → L in AAR39431 (Ref. 2) Curated1
Sequence conflicti206D → VSTP in AAA62827 (PubMed:2004775).Curated1
Sequence conflicti206D → VSTP in CAA32612 (PubMed:2004775).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_01707735 – 48Missing in isoform 1. 2 PublicationsAdd BLAST14

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14778.1 [Q99218-1]

Protein sequence database of the Protein Information Resource

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PIRi
F41816

NCBI Reference Sequences

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RefSeqi
NP_001134.1, NM_001143.1 [Q99218-1]
XP_016885531.1, XM_017030042.1 [Q99218-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.1238

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000215479; ENSP00000215479; ENSG00000099721 [Q99218-1]
ENST00000383036; ENSP00000372505; ENSG00000099721 [Q99218-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
266

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:266

UCSC genome browser

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UCSCi
uc004fqz.3 human [Q99218-2]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_016885531.1, XM_017030042.1 [Q99218-2]
UniGeneiHs.1238

3D structure databases

ProteinModelPortaliQ99218
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ99218, 1 interactor

Polymorphism and mutation databases

BioMutaiAMELY
DMDMi85681286

Proteomic databases

PRIDEiQ99218
ProteomicsDBi78251
78252 [Q99218-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
266
DisGeNETi266
EuPathDBiHostDB:ENSG00000099721.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
AMELY
HGNCiHGNC:462 AMELY
MIMi410000 gene
neXtProtiNX_Q99218
OpenTargetsiENSG00000099721
PharmGKBiPA24767

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00940000167104
HOGENOMiHOG000231643
HOVERGENiHBG016835
InParanoidiQ99218
OMAiWPATDRT
OrthoDBiEOG091G107T
PhylomeDBiQ99218
TreeFamiTF337092

Enzyme and pathway databases

SignaLinkiQ99218

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
AMELY

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
266
PMAP-CutDBiQ99218

Protein Ontology

More...
PROi
PR:Q99218

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000099721 Expressed in 13 organ(s), highest expression level in thyroid gland
CleanExiHS_AMELY
GenevisibleiQ99218 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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAMELY_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q99218
Secondary accession number(s): Q6RWT1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: January 24, 2006
Last modified: December 5, 2018
This is version 147 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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