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    Amelx amelogenin, X-linked [ Rattus norvegicus (Norway rat) ]

    Gene ID: 29160, updated on 9-Dec-2024

    Summary

    Official Symbol
    Amelxprovided by RGD
    Official Full Name
    amelogenin, X-linkedprovided by RGD
    Primary source
    RGD:2107
    See related
    EnsemblRapid:ENSRNOG00000003965 AllianceGenome:RGD:2107
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Amel; LRAP
    Summary
    Enables identical protein binding activity. A structural constituent of tooth enamel. Involved in response to calcium ion; response to nutrient; and response to xenobiotic stimulus. Located in endocytic vesicle. Biomarker of autosomal dominant hypocalcemia. Human ortholog(s) of this gene implicated in amelogenesis imperfecta and amelogenesis imperfecta type 1E. Orthologous to human AMELX (amelogenin X-linked) and AMELY (amelogenin Y-linked). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Lung (RPKM 9.2), Uterus (RPKM 5.1) and 7 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Amelx in Genome Data Viewer
    Location:
    Xq13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) X NC_086039.1 (28648803..28660099)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) X NC_051356.1 (25076362..25087660)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) X NC_005120.4 (26439197..26450495)

    Chromosome X - NC_086039.1Genomic Context describing neighboring genes Neighboring gene midline 1 Neighboring gene uncharacterized LOC134484072 Neighboring gene Rho GTPase activating protein 6 Neighboring gene holocytochrome c synthase Neighboring gene uncharacterized LOC120099231 Neighboring gene uncharacterized LOC120099222

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    General gene information

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables calcium ion binding  
    enables growth factor activity  
    enables hydroxyapatite binding  
    enables identical protein binding PubMed 
    enables identical protein binding  
    enables protein homodimerization activity  
    enables sodium ion binding  
    enables structural constituent of tooth enamel  
    enables structural constituent of tooth enamel PubMed 
    enables structural constituent of tooth enamel  
    enables structural constituent of tooth enamel PubMed 
    Process Evidence Code Pubs
    involved_in amelogenesis  
    involved_in biomineral tissue development  
    involved_in cell adhesion  
    involved_in enamel mineralization  
    involved_in enamel mineralization  
    involved_in odontogenesis of dentin-containing tooth  
    involved_in regulation of cell population proliferation  
    involved_in response to calcium ion PubMed 
    involved_in response to nutrient PubMed 
    involved_in response to xenobiotic stimulus PubMed 
    involved_in signal transduction  
    involved_in tooth mineralization  
    Component Evidence Code Pubs
    located_in basement membrane  
    located_in cell surface  
    is_active_in collagen-containing extracellular matrix  
    located_in collagen-containing extracellular matrix  
    located_in collagen-containing extracellular matrix  
    located_in endocytic vesicle PubMed 
    located_in extracellular region  
    part_of protein-containing complex  
    located_in supramolecular complex  

    General protein information

    Preferred Names
    amelogenin, X isoform
    Names
    amelogenin X chromosome
    leucine-rich amelogenin peptide

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001271073.1NP_001258002.1  amelogenin, X isoform isoform 2 precursor

      See identical proteins and their annotated locations for NP_001258002.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      U60562
      UniProtKB/TrEMBL
      A6K2E9
      Conserved Domains (1) summary
      smart00818
      Location:28171
      Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
    2. NM_001271074.1NP_001258003.1  amelogenin, X isoform isoform 1 precursor

      See identical proteins and their annotated locations for NP_001258003.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      JAXUCZ010000021
      UniProtKB/TrEMBL
      A0A8L2UHN6, A6K2E8
      Related
      ENSRNOP00000048382.2, ENSRNOT00000052176.6
      Conserved Domains (1) summary
      smart00818
      Location:28195
      Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
    3. NM_001271075.1NP_001258004.1  amelogenin, X isoform isoform 3 precursor

      See identical proteins and their annotated locations for NP_001258004.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site at the 5' end of an exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      U60562, U60564
      UniProtKB/TrEMBL
      A6K2F0, Q63642
      Conserved Domains (1) summary
      smart00818
      Location:1874
      Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
    4. NM_001271076.1NP_001258005.1  amelogenin, X isoform isoform 4 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      U60562, U60563
      UniProtKB/TrEMBL
      A0A0G2JT37
      Related
      ENSRNOP00000068556.1, ENSRNOT00000087268.3
      Conserved Domains (1) summary
      pfam02948
      Location:2147
      Amelogenin
    5. NM_001271077.1NP_001258006.1  amelogenin, X isoform isoform 6 precursor

      See identical proteins and their annotated locations for NP_001258006.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (6) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      U60562, U67130
      UniProtKB/TrEMBL
      A0A8L2UHN6, A6K2F2
      Conserved Domains (1) summary
      smart00818
      Location:28196
      Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
    6. NM_001271078.1NP_001258007.1  amelogenin, X isoform isoform 7 precursor

      See identical proteins and their annotated locations for NP_001258007.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) uses an alternate in-frame splice site at the 5' end of an exon and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (7) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      U60562, U60564, U67130
      UniProtKB/TrEMBL
      A6K2F3
      Conserved Domains (1) summary
      smart00818
      Location:1875
      Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
    7. NM_019154.2NP_062027.1  amelogenin, X isoform isoform 5 precursor

      See identical proteins and their annotated locations for NP_062027.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate in-frame exon and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (5) contains an alternate internal segment and has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      U60562, U67130
      UniProtKB/Swiss-Prot
      P63278, Q62945, Q63640, Q78E56
      UniProtKB/TrEMBL
      A0A8L2UHN6, A6K2F1
      Related
      ENSRNOP00000069787.2, ENSRNOT00000078843.3
      Conserved Domains (1) summary
      smart00818
      Location:49210
      Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086039.1 Reference GRCr8

      Range
      28648803..28660099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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