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    Heph hephaestin [ Rattus norvegicus (Norway rat) ]

    Gene ID: 117240, updated on 27-Nov-2024

    Summary

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    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 ferroxidase activity. Predicted to be involved in several processes, including intestinal iron absorption; multicellular organismal-level iron ion homeostasis; and positive regulation of iron export across plasma membrane. Predicted to act upstream of or within erythrocyte differentiation. Located in perinuclear region of cytoplasm. Orthologous to human HEPH (hephaestin). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Lung (RPKM 106.5), Spleen (RPKM 99.5) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    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

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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. Development and iron-dependent expression of hephaestin in different brain regions of rats. Qian ZM, et al. J Cell Biochem, 2007 Dec 1. PMID 17516501
    2. Functional role of the putative iron ligands in the ferroxidase activity of recombinant human hephaestin. Vashchenko G, et al. J Biol Inorg Chem, 2012 Dec. PMID 22961397
    3. Immunoreactive hephaestin and ferroxidase activity are present in the cytosolic fraction of rat enterocytes. Ranganathan PN, et al. Biometals, 2012 Aug. PMID 22350470, Free PMC Article
    4. Interactions between ferroportin and hephaestin in rat enterocytes are reduced after iron ingestion. Yeh KY, et al. Gastroenterology, 2011 Jul. PMID 21473866
    5. Ferroportin1 and hephaestin overexpression attenuate iron-induced oxidative stress in MES23.5 dopaminergic cells. Song N, et al. J Cell Biochem, 2010 Aug 1. PMID 20564203

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hepcidin or enterocyte iron levels may be involved in the regulation of the age-dependent expression in the duodenum.
      Title: Age-dependent expression of duodenal cytochrome b, divalent metal transporter 1, ferroportin 1, and hephaestin in the duodenum of rats.
    2. Cytosolic Heph increased upon iron-deprivation but more important, decreased significantly upon copper-deprivation, mimicking the response of membrane-bound Heph.
      Title: Immunoreactive hephaestin and ferroxidase activity are present in the cytosolic fraction of rat enterocytes.
    3. Reduced interactions between Fpn and Heph after iron ingestion indicate that this is a regulatory mechanism for limiting further iron absorption.
      Title: Interactions between ferroportin and hephaestin in rat enterocytes are reduced after iron ingestion.
    4. Results suggest that FPN1 and/or HP might directly contribute to iron efflux process from neurons in conditions of overexpression, thus prevent cellular iron accumulation and eventually protect cells from iron-induced oxidative stress.
      Title: Ferroportin1 and hephaestin overexpression attenuate iron-induced oxidative stress in MES23.5 dopaminergic cells.
    5. Iron feeding induces ferroportin 1 and hephaestin migration and interaction in rat duodenal epithelium.
      Title: Iron feeding induces ferroportin 1 and hephaestin migration and interaction in rat duodenal epithelium.
    6. Development and iron-dependent expression of Heph in different brain regions is reported.
      Title: Development and iron-dependent expression of hephaestin in different brain regions of rats.
    7. cellular locations identified by immunofluorescence
      Title: Cellular location of proteins related to iron absorption and transport.
    8. Hephaestin might have a role in heart iron homeostasis.
      Title: Expression of ferroportin1, hephaestin and ceruloplasmin in rat heart.
    9. These results show for the first time that FP1 and HP co-localize in the rat brain, and suggest that decreased expression of these transporters in the SN can account for the increased iron levels.
      Title: Ferroportin1 and hephaestin are involved in the nigral iron accumulation of 6-OHDA-lesioned rats.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    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
    		  
    enables ferroxidase activity ISS
    Inferred from Sequence or Structural Similarity
    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 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 ISO
    Inferred from Sequence Orthology
    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 ISO
    Inferred from Sequence Orthology
    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

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    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)

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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_133304.1 → NP_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:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732 → 903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223 → 363
      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_063279761.1 → XP_063135831.1  hephaestin isoform X2

    2. XM_039099420.2 → XP_038955348.1  hephaestin isoform X1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46
      Conserved Domains (4) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732 → 903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223 → 363
      Cupredoxin; Cupredoxin superfamily

    3. XM_039099423.2 → XP_038955351.1  hephaestin isoform X1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46
      Conserved Domains (4) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732 → 903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223 → 363
      Cupredoxin; Cupredoxin superfamily

    4. XM_039099422.2 → XP_038955350.1  hephaestin isoform X1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46
      Conserved Domains (4) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732 → 903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223 → 363
      Cupredoxin; Cupredoxin superfamily

    5. XM_039099421.2 → XP_038955349.1  hephaestin isoform X1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46
      Conserved Domains (4) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732 → 903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223 → 363
      Cupredoxin; Cupredoxin superfamily

    6. XM_039099424.2 → XP_038955352.1  hephaestin isoform X1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46
      Conserved Domains (4) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732 → 903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223 → 363
      Cupredoxin; Cupredoxin superfamily

    7. XM_006257048.5 → XP_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:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732 → 903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223 → 363
      Cupredoxin; Cupredoxin superfamily

    8. XM_039099426.2 → XP_038955354.1  hephaestin isoform X1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A0A8L2R2A9, A6IQ46
      Conserved Domains (4) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732 → 903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223 → 363
      Cupredoxin; Cupredoxin superfamily

    9. XM_006257049.5 → XP_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:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 571
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:732 → 903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:223 → 363
      Cupredoxin; Cupredoxin superfamily

    10. XM_063279760.1 → XP_063135830.1  hephaestin isoform X1

      UniProtKB/Swiss-Prot
      Q920H8
      UniProtKB/TrEMBL
      A6IQ46
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q920H8.1 GenPept UniProtKB/Swiss-Prot:Q920H8

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