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Q99218 (AMELY_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
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Names and origin

Protein namesRecommended name:
Amelogenin, Y isoform
Gene names
Name:AMELY
Synonyms:AMGL, AMGY
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length206 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subcellular location

Secreted › extracellular space › extracellular matrix.

Developmental stage

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

Sequence similarities

Belongs to the amelogenin family.

Ontologies

Keywords
   Biological processBiomineralization
   Cellular componentExtracellular matrix
Secreted
   Coding sequence diversityAlternative splicing
   DomainRepeat
Signal
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbiomineral tissue development

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentextracellular matrix

Inferred by curator Ref.1. Source: BHF-UCL

proteinaceous extracellular matrix

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionstructural constituent of tooth enamel

Inferred from direct assay Ref.1. Source: BHF-UCL

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 2 (identifier: Q99218-2)

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.
Isoform 1 (identifier: Q99218-1)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1616 By similarity
Chain17 – 206190Amelogenin, Y isoform
PRO_0000001200

Regions

Compositional bias86 – 17085Gln-rich

Natural variations

Alternative sequence35 – 4814Missing in isoform 1.
VSP_017077

Experimental info

Sequence conflict311F → L in AAR39431. Ref.2
Sequence conflict2061D → VSTP in AAA62827. Ref.4
Sequence conflict2061D → VSTP in CAA32612. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 2 [UniParc].

Last modified January 24, 2006. Version 2.
Checksum: 9324AB50546DB4D5

FASTA20623,250
        10         20         30         40         50         60 
MGTWILFACL VGAAFAMPLP PHPGHPGYIN FSYENSHSQA INVDRIALVL TPLKWYQSMI 

        70         80         90        100        110        120 
RPPYSSYGYE PMGGWLHHQI IPVVSQQHPL THTLQSHHHI PVVPAQQPRV RQQALMPVPG 

       130        140        150        160        170        180 
QQSMTPTQHH QPNLPLPAQQ PFQPQPVQPQ PHQPMQPQPP VQPMQPLLPQ PPLPPMFPLR 

       190        200 
PLPPILPDLH LEAWPATDKT KQEEVD

« Hide

Isoform 1 [UniParc].

Checksum: 978508D0C9418378
Show »

FASTA19221,730

References

« Hide 'large scale' references
[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).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		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.
IPIIPI00450003.
IPI00647871.
PIRF41816.
RefSeqNP_001134.1. NM_001143.1.
UniGeneHs.1238.

3D structure databases

ProteinModelPortalQ99218.
ModBaseSearch...

Protein-protein interaction databases

STRING9606.ENSP00000215479.

Polymorphism databases

DMDM85681286.

Proteomic databases

PaxDbQ99218.
PRIDEQ99218.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000215479; ENSP00000215479; ENSG00000099721.
ENST00000383036; ENSP00000372505; ENSG00000099721.
GeneID266.
KEGGhsa:266.
UCSCuc004fqz.3. human.
uc004fra.1. human.

Organism-specific databases

CTD266.
GeneCardsGC0YM006777.
HGNCHGNC:462. AMELY.
HPAHPA005988.
MIM410000. gene.
neXtProtNX_Q99218.
PharmGKBPA24767.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG69988.
HOGENOMHOG000231643.
HOVERGENHBG016835.
InParanoidQ99218.
OMATHTLQSH.

Gene expression databases

CleanExHS_AMELY.
GenevestigatorQ99218.
GermOnlineENSG00000099721. Homo sapiens.

Family and domain databases

InterProIPR004116. Amelogenin.
[Graphical view]
PfamPF02948. Amelogenin. 1 hit.
[Graphical view]
PRINTSPR01757. AMELOGENIN.
SMARTSM00818. Amelogenin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi266.
NextBio1045.
PMAP-CutDBQ99218.
SOURCESearch...

Entry information

Entry nameAMELY_HUMAN
AccessionPrimary (citable) accession number: Q99218
Secondary accession number(s): Q6RWT1
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: January 24, 2006
Last modified: May 1, 2013
This is version 111 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome Y

Human chromosome Y: entries, gene names and cross-references to MIM

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

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