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    Loxhd1 lipoxygenase homology PLAT domains 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 291427, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Loxhd1provided by RGD
    Official Full Name
    lipoxygenase homology PLAT domains 1provided by RGD
    Primary source
    RGD:1304815
    See related
    EnsemblRapid:ENSRNOG00000017410 AllianceGenome:RGD:1304815
    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 sensory perception of sound. Predicted to be active in stereocilium. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy; autosomal recessive nonsyndromic deafness 77; and orofacial cleft. Orthologous to human LOXHD1 (lipoxygenase homology PLAT domains 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Adrenal (RPKM 1.5), Testes (RPKM 0.6) and 2 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Loxhd1 in Genome Data Viewer
    Location:
    18q12.3
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 18 NC_086036.1 (73093142..73245784)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 18 NC_051353.1 (70817962..70970606)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 18 NC_005117.4 (73645365..73812271)

    Chromosome 18 - NC_086036.1Genomic Context describing neighboring genes Neighboring gene katanin catalytic subunit A1 like 2 Neighboring gene protein inhibitor of activated STAT, 2 Neighboring gene uncharacterized LOC102552068 Neighboring gene ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 Neighboring gene uncharacterized LOC102551787 Neighboring gene uncharacterized protein DDB_G0292186-like Neighboring gene arkadia C-terminal like ring finger ubiquitin ligase 2C Neighboring gene uncharacterized LOC108348739

    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. Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate. Mitra AK, et al. Front Genet, 2016. PMID 27242896, Free PMC Article
    2. Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. Riazuddin SA, et al. Am J Hum Genet, 2012 Mar 9. PMID 22341973, Free PMC Article
    3. Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. Grillet N, et al. Am J Hum Genet, 2009 Sep. PMID 19732867, Free PMC Article
    4. A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. Schwander M, et al. J Neurosci, 2007 Feb 28. PMID 17329413, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, 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 biological_process ND
    No biological Data available
    more info
    		  
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within sensory perception of sound ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sensory perception of sound ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in stereocilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in stereocilium ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    lipoxygenase homology domain-containing protein 1
    Names
    lipoxygenase homology domains 1

    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_001106132.4 → NP_001099602.4  lipoxygenase homology domain-containing protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000018
      UniProtKB/TrEMBL
      A0A8I6ANZ5, D4A3A1
      Related
      ENSRNOP00000023487.8, ENSRNOT00000023487.9
      Conserved Domains (2) summary
      cd01756
      Location:1026 → 1146
      PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
      cl00011
      Location:816 → 896
      PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

    2. NM_001414400.1 → NP_001401329.1  lipoxygenase homology domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000018
      Related
      ENSRNOP00000111676.1, ENSRNOT00000143083.1

    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_086036.1 Reference GRCr8

      Range
      73093142..73245784
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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