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Q99218

- AMELY_HUMAN

UniProt

Q99218 - AMELY_HUMAN

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Protein

Amelogenin, Y isoform

Gene

AMELY

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript 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. structural constituent of tooth enamel Source: BHF-UCL

GO - Biological processi

  1. biomineral tissue development Source: UniProtKB-KW
Complete GO annotation...

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-KW
Complete GO annotation...

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

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.
GeneTreeiENSGT00390000009151.
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.

« 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
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:
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]
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:
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 .
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.
GeneTreei ENSGT00390000009151.
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

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

« 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. 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 29, 2014
This is version 124 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