AMELY:Amelogenin, Y isoform

Gene Name
Amelogenin, Y isoform
Protein ID
Q99218
Chromosome ID
Y
HPP Status
2
Protein Name
Amelogenin, Y isoform
Synonyms

AMGL

amelogenin (Y chromosome)

AMGY

amelogenin, Y-linked

amelogenin, Y isoform


[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMELY ]
Chromosomal Position
Yp11.2 | Start:6865918 End:6865918
Sequence
Q99218.fasta
Description

Entrez Gene Summary for AMELY
This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. (provided by RefSeq, Jul 2008)

UniProtKB Summary for AMELY
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

[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMELY ]
External IDs
Hgnc ID: 462 EntrezGene ID: 266 Ensembl ID: ENSG00000099721
[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMELY ]
Reference Source
http://www.nextprot.org

Gene Reference Into Function (GeneRIF)


PubMed IDGeneRIF TextLast Update
17189292Multigene deletions encompassing AMELY on short arm of chromosome Y.2010-01-21
17588179The combined frequency of the AMELY null allele in Singapore and Malaysia populations is 2.7%, 0.6% in Indian and Malay ethnic groups respectively. It is absent among 541 Chinese screened.2010-01-21
18067069Observational study of genotype prevalence. (HuGE Navigator)2008-03-13
22669323Results of haplogroup prediction showed that seven AMELY dropouts combined with variant Y-STR deletions can be classified as the J2 subdivision, suggesting that some of these Y chromosomes might descend from a common ancestor.2013-03-02
23623014252 confirmed and unrelated father/son pairs from the Moroccan population were examined using 17 Y-STR markers of the AmpFISTR Yfiler kit. A total of 15 single repeat mutations between fathers and sons were observed as mutational events.2014-05-03
23948316demonstrate the presence of copy number variations in regions containing 9 of the 13 CODIS(Combined DNA Index System) short tandem repeat(STR) and AMELX/Y loci2014-05-17
Reference
http://www.ncbi.nlm.nih.gov/gene/about-generif
ftp://ftp.ncbi.nih.gov/gene/GeneRIF/

OMICSDI Browser



Relevant citations within the PubMed literature

         

Putative/known Functions



Localisation



Homologues, Orthologues, Paralogues and Family



Sequence Similarity and Functional Annotation


Sequence Similarity

Db NameQuery UniSubject UniSequence LengthAlignment LengthIdentityCoverageMismatchesGap OpeningsQuery StartQuery EndSubject StartSubject EndEvalueBit Score
Reviewed non-human mammalian with experimental evidenceAMELY_HUMANAMELX_BOVIN20612777.1761.65151112711133E-34140
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

InterProScan Annotation

Uniprot IDInterpro IDGo IDTypeNameCategoryDescription
AMELY_HUMANIPR004116GO:0005578FamilyAmelogeninCellular Componentproteinaceous extracellular matrix
AMELY_HUMANIPR004116GO:0007275FamilyAmelogeninBiological Processmulticellular organismal development
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

Post Translational Modifications



Protein Protein Interactions



Best Available Mass Spectra without FDR




gpmDB

Evidence File
/mnt/mpp/ms_data/Q99218_gpmdb.txt
Reference
Fenyö, David; Beavis, Ronald C. (2015). "The GPMDB REST interface". Bioinformatics 31 (12): 2056–2058. doi:10.1093/bioinformatics/btv107. ISSN 1367-4803.
http://gpmdb.thegpm.org/ ">Global Proteome Machine Database - THE GPM