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    C1h19orf12 similar to human chromosome 19 open reading frame 12 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 690000, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C1h19orf12provided by RGD
    Official Full Name
    similar to human chromosome 19 open reading frame 12provided by RGD
    Primary source
    RGD:1585208
    See related
    EnsemblRapid:ENSRNOG00000014966 AllianceGenome:RGD:1585208
    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
    Summary
    Predicted to be involved in several processes, including autophagy; mitochondrial calcium ion homeostasis; and response to oxidative stress. Predicted to be located in cytosol; endoplasmic reticulum; and mitochondrial membrane. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 43 and neurodegeneration with brain iron accumulation 4. Orthologous to human C19orf12 (chromosome 19 open reading frame 12). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Spleen (RPKM 83.1), Liver (RPKM 76.1) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See C1h19orf12 in Genome Data Viewer
    Location:
    1q21
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (100010280..100023907)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (90873578..90887205)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (94572714..94587842)

    Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L32, pseudogene 1 Neighboring gene U7 small nuclear RNA Neighboring gene RNA, U6 small nuclear 968 Neighboring gene uncharacterized LOC108349450 Neighboring gene pleckstrin homology and FYVE domain containing 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
    • 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. Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺. Venco P, et al. Front Genet, 2015. PMID 26136767, Free PMC Article
    2. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Landouré G, et al. Hum Mutat, 2013 Oct. PMID 23857908, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in autophagy ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial calcium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    protein C19orf12 homolog

    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_001401691.2 → NP_001388620.1  protein C19orf12 homolog

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000001

    2. NM_001401692.2 → NP_001388621.1  protein C19orf12 homolog

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000001

    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_086019.1 Reference GRCr8

      Range
      100010280..100023907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_001073988.8 → XP_001073988.1  protein C19orf12 homolog isoform X2

      See identical proteins and their annotated locations for XP_001073988.1

      UniProtKB/TrEMBL
      A0A8I6ACX1

    2. XM_006228914.5 → XP_006228976.1  protein C19orf12 homolog isoform X1

      UniProtKB/TrEMBL
      A0A8I6ACX1, D3ZWS2
      Related
      ENSRNOP00000020079.5, ENSRNOT00000020079.9

    3. XM_006228917.5 → XP_006228979.1  protein C19orf12 homolog isoform X2

      See identical proteins and their annotated locations for XP_006228979.1

      UniProtKB/TrEMBL
      A0A8I6ACX1
    Nucleotide Protein Strain
    Heading Accession and Version

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