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AMELY amelogenin, Y-linked [ Homo sapiens (human) ]

Gene ID: 266, updated on 22-May-2014
Official Symbol
AMELYprovided by HGNC
Official Full Name
amelogenin, Y-linkedprovided by HGNC
Primary source
HGNC:462
See related
Ensembl:ENSG00000099721; HPRD:02462; MIM:410000; Vega:OTTHUMG00000035297
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AMGL; AMGY
Summary
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]
See AMELY in Epigenomics, MapViewer
Location:
Yp11.2
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) Y NC_000024.10 (6865918..6874027, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (6733959..6742068, complement)

Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene sorcin pseudogene 3 Neighboring gene glutamic-oxaloacetic transaminase 2 pseudogene 5 Neighboring gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 pseudogene 1 Neighboring gene transducin (beta)-like 1, Y-linked Neighboring gene family with sequence similarity 199, Y-linked, pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
structural constituent of tooth enamel IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
biomineral tissue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular matrix IC
Inferred by Curator
more info
PubMed 
proteinaceous extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
amelogenin, Y isoform
Names
amelogenin, Y isoform
amelogenin (Y chromosome)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008011.1 

    Range
    5001..13110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143.1NP_001134.1  amelogenin, Y isoform precursor

    See proteins identical to NP_001134.1

    Status: REVIEWED

    Source sequence(s)
    M86933
    Consensus CDS
    CCDS14778.1
    UniProtKB/Swiss-Prot
    Q99218
    Related
    ENSP00000215479, OTTHUMP00000033222, ENST00000215479, OTTHUMT00000085358
    Conserved Domains (1) summary
    smart00818
    Location:28192
    Blast Score: 382
    Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000024.10 

    Range
    6865918..6874027
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000156.1 

    Range
    4293013..4301121
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)