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AMBN ameloblastin [ Homo sapiens (human) ]

Gene ID: 258, updated on 21-Jun-2020

Summary

Official Symbol
AMBNprovided by HGNC
Official Full Name
ameloblastinprovided by HGNC
Primary source
HGNC:HGNC:452
See related
Ensembl:ENSG00000178522 MIM:601259
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
AI1F
Summary
This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See AMBN in Genome Data Viewer
Location:
4q13.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (70592256..70607288)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (71457975..71473005)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene mucin 7, secreted Neighboring gene amelotin Neighboring gene enamelin Neighboring gene joining chain of multimeric IgA and IgM

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
growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of tooth enamel IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biomineral tissue development IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ameloblastin
Names
enamel matrix protein

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_042078.1 RefSeqGene

    Range
    4999..20031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016519.6NP_057603.1  ameloblastin precursor

    See identical proteins and their annotated locations for NP_057603.1

    Status: REVIEWED

    Source sequence(s)
    AC134919, AF209780, AJ537437, BC106931, BP248666
    Consensus CDS
    CCDS3543.1
    UniProtKB/Swiss-Prot
    Q9NP70
    UniProtKB/TrEMBL
    Q546D7
    Related
    ENSP00000313809.6, ENST00000322937.10
    Conserved Domains (1) summary
    pfam05111
    Location:5447
    Amelin; Ameloblastin precursor (Amelin)

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
    70592256..70607288
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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