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    Fam20a FAM20A, golgi associated secretory pathway pseudokinase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 303635, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Fam20aprovided by RGD
    Official Full Name
    FAM20A, golgi associated secretory pathway pseudokinaseprovided by RGD
    Primary source
    RGD:1306364
    See related
    EnsemblRapid:ENSRNOG00000003969 AllianceGenome:RGD:1306364
    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
    RGD1306364
    Summary
    Predicted to enable protein serine/threonine kinase activator activity. Predicted to be involved in calcium ion homeostasis; odontogenesis; and positive regulation of protein phosphorylation. Predicted to act upstream of or within response to bacterium. Predicted to be located in endoplasmic reticulum and extracellular space. Predicted to colocalize with Golgi apparatus. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 1G. Orthologous to human FAM20A (FAM20A golgi associated secretory pathway pseudokinase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Heart (RPKM 172.2), Adrenal (RPKM 131.0) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Fam20a in Genome Data Viewer
    Location:
    10q32.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 10 NC_086028.1 (95136799..95197176, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 10 NC_051345.1 (94638836..94697814, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 10 NC_005109.4 (97962467..98017171, complement)

    Chromosome 10 - NC_086028.1Genomic Context describing neighboring genes Neighboring gene arylsulfatase G Neighboring gene WD repeat domain, phosphoinositide interacting 1 Neighboring gene uncharacterized LOC100912202 Neighboring gene protein kinase cAMP-dependent type I regulatory subunit alpha Neighboring gene uncharacterized LOC134480894 Neighboring gene RIKEN cDNA 1700012B07 gene like Neighboring gene ribosomal protein L23a, pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages 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

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    Related articles in PubMed

    1. Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene. Cabral RM, et al. J Hum Genet, 2013 Aug. PMID 23697977
    2. Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Jaureguiberry G, et al. Nephron Physiol, 2012. PMID 23434854, Free PMC Article
    3. Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. Cho SH, et al. Hum Mutat, 2012 Jan. PMID 21990045
    4. FAM20A mutations can cause enamel-renal syndrome (ERS). Wang SK, et al. PLoS Genet, 2013. PMID 23468644, Free PMC Article
    5. Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice. Vogel P, et al. Vet Pathol, 2012 Nov. PMID 22732358

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT enables phosphotransferase activity, alcohol group as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine kinase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine kinase activator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    NOT enables protein serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in biomineral tissue development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in calcium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in enamel mineralization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within enamel mineralization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in enamel mineralization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within response to bacterium ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in tooth eruption ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    colocalizes_with Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    pseudokinase FAM20A
    Names
    family with sequence similarity 20, member A
    protein FAM20A

    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_001012237.2 → NP_001012237.1  pseudokinase FAM20A

      See identical proteins and their annotated locations for NP_001012237.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000010
      UniProtKB/TrEMBL
      I7LRF5, J9JIJ5
      Related
      ENSRNOP00000005367.3, ENSRNOT00000005367.7
      Conserved Domains (1) summary
      cl05973
      Location:306 → 522
      FAM20_C_like; C-terminal putative kinase domain of FAM20 (family with sequence similarity 20), Drosophila Four-jointed (Fj), and related proteins

    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_086028.1 Reference GRCr8

      Range
      95136799..95197176 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039086178.2 → XP_038942106.1  pseudokinase FAM20A isoform X1

      Conserved Domains (1) summary
      cl05973
      Location:119 → 335
      FAM20_C_like; C-terminal putative kinase domain of FAM20 (family with sequence similarity 20), Drosophila Four-jointed (Fj), and related proteins

    2. XM_039086179.2 → XP_038942107.1  pseudokinase FAM20A isoform X1

      Conserved Domains (1) summary
      cl05973
      Location:119 → 335
      FAM20_C_like; C-terminal putative kinase domain of FAM20 (family with sequence similarity 20), Drosophila Four-jointed (Fj), and related proteins

    RNA

    1. XR_005489861.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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