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    Heph hephaestin [ Rattus norvegicus (Norway rat) ]

    Gene ID: 117240, updated on 18-Sep-2024

    Summary

    Official Symbol
    Hephprovided by RGD
    Official Full Name
    hephaestinprovided by RGD
    Primary source
    RGD:71060
    See related
    EnsemblRapid:ENSRNOG00000012294 AllianceGenome:RGD:71060
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable copper ion binding activity; ferrous iron binding activity; and ferroxidase activity. Predicted to be involved in iron ion homeostasis and iron ion transport. Predicted to act upstream of or within erythrocyte differentiation. Located in perinuclear region of cytoplasm and plasma membrane. Orthologous to human HEPH (hephaestin). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Lung (RPKM 106.5), Spleen (RPKM 99.5) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Heph in Genome Data Viewer
    Location:
    Xq22
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) X NC_086039.1 (65160628..65412457)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) X NC_051356.1 (61151131..61402980)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) X NC_005120.4 (65377313..65658479)

    Chromosome X - NC_086039.1Genomic Context describing neighboring genes Neighboring gene small Cajal body-specific RNA 3 Neighboring gene moesin Neighboring gene uncharacterized LOC120099372 Neighboring gene microRNA 223 Neighboring gene ubiquitin-like protein ATG12 pseudogene Neighboring gene V-set and immunoglobulin domain containing 4 Neighboring gene heat shock transcription factor 3 Neighboring gene CDGSH iron sulfur domain 3, pseudogene 1 Neighboring gene 60 kDa heat shock protein, mitochondrial pseudogene Neighboring gene G protein-coupled receptor 165 Neighboring gene G protein-coupled receptor 15-like

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables copper ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ferroxidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ferroxidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within erythrocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intestinal iron absorption ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in iron ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in multicellular organismal-level iron ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of iron export across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    hephaestin
    NP_579838.1
    XP_006257110.1
    XP_006257111.1
    XP_038955348.1
    XP_038955349.1
    XP_038955350.1
    XP_038955351.1
    XP_038955352.1
    XP_038955354.1
    XP_063135830.1
    XP_063135831.1

    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_133304.1NP_579838.1  hephaestin precursor

      See identical proteins and their annotated locations for NP_579838.1

      Status: PROVISIONAL

      Source sequence(s)
      AF246120
      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46
      Conserved Domains (4) summary
      cd04222
      Location:26208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223363
      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_086039.1 Reference GRCr8

      Range
      65160628..65412457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063279761.1XP_063135831.1  hephaestin isoform X2

      UniProtKB/TrEMBL
      A0A8L2R2A9
    2. XM_039099420.2XP_038955348.1  hephaestin isoform X1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46
      Conserved Domains (4) summary
      cd04222
      Location:26208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223363
      Cupredoxin; Cupredoxin superfamily
    3. XM_039099423.2XP_038955351.1  hephaestin isoform X1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46
      Conserved Domains (4) summary
      cd04222
      Location:26208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223363
      Cupredoxin; Cupredoxin superfamily
    4. XM_039099422.2XP_038955350.1  hephaestin isoform X1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46
      Conserved Domains (4) summary
      cd04222
      Location:26208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223363
      Cupredoxin; Cupredoxin superfamily
    5. XM_039099421.2XP_038955349.1  hephaestin isoform X1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46
      Conserved Domains (4) summary
      cd04222
      Location:26208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223363
      Cupredoxin; Cupredoxin superfamily
    6. XM_039099424.2XP_038955352.1  hephaestin isoform X1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46
      Conserved Domains (4) summary
      cd04222
      Location:26208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223363
      Cupredoxin; Cupredoxin superfamily
    7. XM_006257048.5XP_006257110.1  hephaestin isoform X1

      See identical proteins and their annotated locations for XP_006257110.1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46
      Related
      ENSRNOP00000017312.2, ENSRNOT00000017312.7
      Conserved Domains (4) summary
      cd04222
      Location:26208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223363
      Cupredoxin; Cupredoxin superfamily
    8. XM_039099426.2XP_038955354.1  hephaestin isoform X1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46
      Conserved Domains (4) summary
      cd04222
      Location:26208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223363
      Cupredoxin; Cupredoxin superfamily
    9. XM_006257049.5XP_006257111.1  hephaestin isoform X1

      See identical proteins and their annotated locations for XP_006257111.1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46
      Conserved Domains (4) summary
      cd04222
      Location:26208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223363
      Cupredoxin; Cupredoxin superfamily
    10. XM_063279760.1XP_063135830.1  hephaestin isoform X1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46