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

Gene ID: 266, updated on 11-Jun-2021

Summary

Official Symbol
AMELYprovided by HGNC
Official Full Name
amelogenin Y-linkedprovided by HGNC
Primary source
HGNC:HGNC:462
See related
Ensembl:ENSG00000099721 MIM:410000
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See AMELY in Genome Data Viewer
Location:
Yp11.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) Y NC_000024.10 (6865918..6911752, complement)
105.20201022 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 GOT2 pseudogene 5 Neighboring gene ATP synthase peripheral stalk subunit F6 pseudogene 1 Neighboring gene transducin beta like 1 Y-linked Neighboring gene family with sequence similarity 199, Y-linked, pseudogene Neighboring gene G protein-coupled receptor 143 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables structural constituent of tooth enamel IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in biomineral tissue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in collagen-containing extracellular matrix IC
Inferred by Curator
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
amelogenin, Y isoform
Names
amelogenin (Y chromosome)

NCBI Reference Sequences (RefSeq)

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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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001143.2NP_001134.1  amelogenin, Y isoform isoform 1 precursor

    See identical proteins and their annotated locations for NP_001134.1

    Status: REVIEWED

    Source sequence(s)
    AC011297, AC013412, M86933
    Consensus CDS
    CCDS14778.1
    UniProtKB/Swiss-Prot
    Q99218
    Related
    ENSP00000498344.1, ENST00000651267.2
    Conserved Domains (1) summary
    smart00818
    Location:28192
    Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
  2. NM_001364814.1NP_001351743.1  amelogenin, Y isoform isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AY487421, M86933
    Related
    ENSP00000372505.1, ENST00000383036.1
    Conserved Domains (1) summary
    smart00818
    Location:28206
    Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p13 Primary Assembly

    Range
    6865918..6911752 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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