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AMTN amelotin [ Homo sapiens (human) ]

Gene ID: 401138, updated on 8-Jul-2021

Summary

Official Symbol
AMTNprovided by HGNC
Official Full Name
amelotinprovided by HGNC
Primary source
HGNC:HGNC:33188
See related
Ensembl:ENSG00000187689 MIM:610912
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AI3B; UNQ689
Summary
The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008]
Expression
Biased expression in stomach (RPKM 3.1), prostate (RPKM 1.0) and 1 other tissue See more
Orthologs
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Genomic context

See AMTN in Genome Data Viewer
Location:
4q13.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (70518569..70532743)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (71384286..71398460)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene opiorphin prepropeptide Neighboring gene mucin 7, secreted Neighboring gene ameloblastin Neighboring gene enamelin

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

Clone Names

  • MGC148132, MGC148133

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biomineral tissue development IEA
Inferred from Electronic Annotation
more info
 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in odontogenesis of dentin-containing tooth IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in odontogenesis of dentin-containing tooth ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of biomineral tissue development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of enamel mineralization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in basement membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in basement membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
is_active_in cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cell-cell junction ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
located_in extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

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.

mRNA and Protein(s)

  1. NM_001286731.2NP_001273660.1  amelotin isoform 2 precursor

    See identical proteins and their annotated locations for NP_001273660.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
    Source sequence(s)
    AC134919, AY358528, BC121812, BF664579, BU727294
    Consensus CDS
    CCDS68716.1
    UniProtKB/Swiss-Prot
    Q6UX39
    Related
    ENSP00000422452.1, ENST00000504451.1
    Conserved Domains (1) summary
    pfam15757
    Location:19205
    Amelotin; Amelotin
  2. NM_212557.4NP_997722.1  amelotin isoform 1 precursor

    See identical proteins and their annotated locations for NP_997722.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC134919, AY358528, BF664579, BU727294
    Consensus CDS
    CCDS3542.1
    UniProtKB/Swiss-Prot
    Q6UX39
    UniProtKB/TrEMBL
    F1T0L8
    Related
    ENSP00000341013.4, ENST00000339336.9
    Conserved Domains (1) summary
    pfam15757
    Location:18206
    Amelotin; Amelotin

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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    70518569..70532743
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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