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    Hephl1 hephaestin-like 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 500946, updated on 4-Jan-2025

    Summary

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    Official Symbol
    Hephl1provided by RGD
    Official Full Name
    hephaestin-like 1provided by RGD
    Primary source
    RGD:1564835
    See related
    EnsemblRapid:ENSRNOG00000056092 AllianceGenome:RGD:1564835
    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
    RGD1564835
    Summary
    Predicted to enable ferroxidase activity. Predicted to be involved in intracellular iron ion homeostasis and iron ion transport. Predicted to be active in plasma membrane. Orthologous to human HEPHL1 (hephaestin like 1). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Biased expression in Uterus (RPKM 2.6), Muscle (RPKM 2.6) and 6 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Hephl1 in Genome Data Viewer
    Location:
    8q12
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (20178190..20246698, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (11896768..11965282, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (13614800..13680870, complement)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134479994 Neighboring gene IZUMO1 receptor, JUNO Neighboring gene Pannexin 1 Neighboring gene ribosomal protein S24, pseudogene 16 Neighboring gene 40S ribosomal protein S6 pseudogene Neighboring gene U1 spliceosomal RNA

    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. Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. Sharma P, et al. PLoS Genet, 2019 May. PMID 31125343, Free PMC Article
    2. Identification of zyklopen, a new member of the vertebrate multicopper ferroxidase family, and characterization in rodents and human cells. Chen H, et al. J Nutr, 2010 Oct. PMID 20685892, Free PMC Article
    3. 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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    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables copper ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ferroxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ferroxidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular iron ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in iron ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ferroxidase HEPHL1
    Names
    hephaestin-like protein 1
    NP_001178922.2

    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_001191993.2 → NP_001178922.2  ferroxidase HEPHL1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000008
      UniProtKB/TrEMBL
      A0A0G2K8Q3
      Related
      ENSRNOP00000074695.2, ENSRNOT00000081616.3
      Conserved Domains (5) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:376 → 572
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd11021
      Location:222 → 362
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cd11022
      Location:575 → 718
      CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:732 → 907
      Cupredoxin; Cupredoxin superfamily

    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_086026.1 Reference GRCr8

      Range
      20178190..20246698 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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