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ENAM enamelin [ Homo sapiens (human) ]

Gene ID: 10117, updated on 28-Jun-2020

Summary

Official Symbol
ENAMprovided by HGNC
Official Full Name
enamelinprovided by HGNC
Primary source
HGNC:HGNC:3344
See related
Ensembl:ENSG00000132464 MIM:606585
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
ADAI; AI1C; AIH2
Summary
Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009]
Expression
Biased expression in kidney (RPKM 2.0), heart (RPKM 1.3) and 5 other tissues See more
Orthologs

Genomic context

See ENAM in Genome Data Viewer
Location:
4q13.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (70627471..70646824)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (71494461..71512536)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene amelotin Neighboring gene ameloblastin Neighboring gene joining chain of multimeric IgA and IgM Neighboring gene uncharacterized LOC101927297

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?

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of tooth enamel IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
ameloblast differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amelogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
biomineral tissue development IEA
Inferred from Electronic Annotation
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
positive regulation of enamel mineralization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
regulation of cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
enamelin
Names
amelogenesis imperfecta 2, hypocalcification (autosomal dominant)

NCBI Reference Sequences (RefSeq)

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_013024.1 RefSeqGene

    Range
    5001..23081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001368133.1NP_001355062.1  enamelin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC009570, AF125373, BC117310, DB088136
  2. NM_031889.3NP_114095.2  enamelin isoform 1 precursor

    See identical proteins and their annotated locations for NP_114095.2

    Status: REVIEWED

    Source sequence(s)
    AC009570, AF125373, BC117308
    Consensus CDS
    CCDS3544.2
    UniProtKB/Swiss-Prot
    Q9NRM1
    Related
    ENSP00000379383.3, ENST00000396073.3
    Conserved Domains (1) summary
    pfam15362
    Location:2131114
    Enamelin; Enamelin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    70627471..70646824
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714056.4XP_006714119.1  enamelin isoform X1

    See identical proteins and their annotated locations for XP_006714119.1

    UniProtKB/Swiss-Prot
    Q9NRM1
    Conserved Domains (1) summary
    pfam15362
    Location:2131114
    Enamelin; Enamelin
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