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    HEPH hephaestin [ Homo sapiens (human) ]

    Gene ID: 9843, updated on 10-Dec-2024

    Summary

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    Official Symbol
    HEPHprovided by HGNC
    Official Full Name
    hephaestinprovided by HGNC
    Primary source
    HGNC:HGNC:4866
    See related
    Ensembl:ENSG00000089472 MIM:300167; AllianceGenome:HGNC:4866
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Hp; CPL
    Summary
    This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Expression
    Broad expression in small intestine (RPKM 39.0), colon (RPKM 38.6) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HEPH in Genome Data Viewer
    Location:
    Xq12
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (66162671..66268863)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (64590334..64696504)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (65382513..65488705)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4431 Neighboring gene ATXN7L3 pseudogene 1 Neighboring gene eukaryotic translation initiation factor 4B pseudogene 9 Neighboring gene MTFR1 pseudogene 1 Neighboring gene G protein-coupled receptor 165, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Decreased hephaestin expression and activity leads to decreased iron efflux from differentiated Caco2 cells. Chen H, et al. J Cell Biochem, 2009 Jul 1. PMID 19452451
    2. Large-insert clone/STS contigs in Xq11-q12, spanning deletions in patients with androgen insensitivity and mental retardation. Schueler MG, et al. Genomics, 2000 May 15. PMID 10843811
    3. Zinc induces iron egress from intestinal Caco-2 cells via induction of Hephaestin: A role for PI3K in intestinal iron absorption. Kondaiah P, et al. Biochem Biophys Res Commun, 2020 Mar 19. PMID 31973819
    4. Analysis of the human hephaestin gene and protein: comparative modelling of the N-terminus ecto-domain based upon ceruloplasmin. Syed BA, et al. Protein Eng, 2002 Mar. PMID 11932491
    5. Oxidation of organic and biogenic amines by recombinant human hephaestin expressed in Pichia pastoris. Vashchenko G, et al. Arch Biochem Biophys, 2011 Oct. PMID 21802403

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association between iron metabolism and SARS-COV-2 infection, determined by ferritin, hephaestin and hypoxia-induced factor-1 alpha levels in COVID-19 patients.
      Title: Association between iron metabolism and SARS-COV-2 infection, determined by ferritin, hephaestin and hypoxia-induced factor-1 alpha levels in COVID-19 patients.
    2. Zinc induces iron egress from intestinal Caco-2 cells via induction of Hephaestin: A role for PI3K in intestinal iron absorption.
      Title: Zinc induces iron egress from intestinal Caco-2 cells via induction of Hephaestin: A role for PI3K in intestinal iron absorption.
    3. Iron supplementation increased surface expression of the iron-efflux complex, and copper depletion knocked down hephaestin (Heph) activity and decreased ferroportin (Fpn) membrane localization.
      Title: Fluorescence resonance energy transfer links membrane ferroportin, hephaestin but not ferroportin, amyloid precursor protein complex with iron efflux.
    4. This review describes function of hephaestin as ferroxidase is essential for iron binding to apotransferrin in the lamina propria of the intestinal mucosa, a process that is important for further transport of iron to the liver by the portal vein.
      Title: [Ceruloplasmin, hephaestin and zyklopen: the three multicopper oxidases important for human iron metabolism].
    5. Iron efflux from human brain microvasculature endothelial cells ferroportin requires the action of an exocytoplasmic ferroxidase which can be either endogenous hephaestin or extracellular ceruloplasmin.
      Title: Ferroportin and exocytoplasmic ferroxidase activity are required for brain microvascular endothelial cell iron efflux.
    6. Heph is active in placenta but may not play a key role in placental iron transport.
      Title: Ferroportin 1 and hephaestin expression in BeWo cell line with different iron treatment.
    7. These results support the hypothesis that hephaestin is involved in iron mobilization of iron from the intestine to circulation.
      Title: Iron repletion relocalizes hephaestin to a proximal basolateral compartment in polarized MDCK and Caco2 cells.
    8. In contrast to ceruloplasmin, hephaestin was incapable of direct oxidation of adrenaline and dopamine implying a difference in biological substrate specificities between these two homologous ferroxidases.
      Title: Oxidation of organic and biogenic amines by recombinant human hephaestin expressed in Pichia pastoris.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.
    10. Hephaestin is expressed in enterocytes, in the antral portion of the stomach, in the myenteric and submucous plexi, and in pancreatic beta-cells.
      Title: Human hephaestin expression is not limited to enterocytes of the gastrointestinal tract but is also found in the antrum, the enteric nervous system, and pancreatic {beta}-cells.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0698

    Gene Ontology Provided by GOA

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ferroxidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    hephaestin
    NP_001124332.2
    NP_001269070.2
    NP_001354161.2
    NP_001354162.2
    NP_001354163.2
    NP_001354165.2
    NP_001354167.2
    NP_001354168.2
    NP_001354169.2
    NP_001354170.2
    NP_001354171.1
    NP_001354172.2
    NP_055614.1
    NP_620074.4
    XP_011529375.1
    XP_011529376.1
    XP_011529377.1
    XP_016885487.1
    XP_047298650.1
    XP_047298651.1
    XP_047298652.1
    XP_047298653.1
    XP_047298654.1
    XP_054184197.1
    XP_054184198.1
    XP_054184199.1
    XP_054184200.1
    XP_054184201.1
    XP_054184202.1
    XP_054184203.1
    XP_054184204.1
    XP_054184205.1

    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.

    Genomic

    1. NG_016265.2 RefSeqGene

      Range
      6657..109799
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130860.6 → NP_001124332.2  hephaestin isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5'-most exon, uses an alternate splice site in the 3' coding region, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (c) is shorter, compared to isoform a.
      Source sequence(s)
      AL030998, AL157698, KF459144
      Consensus CDS
      CCDS48133.2
      UniProtKB/TrEMBL
      A0A0C4DG76
      Related
      ENSP00000411687.3, ENST00000441993.7
      Conserved Domains (6) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 572
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:733 → 905
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cd11021
      Location:223 → 363
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cd11022
      Location:575 → 718
      CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:920 → 1063
      Cupredoxin; Cupredoxin superfamily

    2. NM_001282141.3 → NP_001269070.2  hephaestin isoform d precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5'-most exon, lacks three consecutive exons in the central coding region, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (d) is shorter, compared to isoform a.
      Source sequence(s)
      AL030998, AL157698, KF459144
      Consensus CDS
      CCDS65277.2
      UniProtKB/TrEMBL
      A0A0C4DG76, E7ES21
      Related
      ENSP00000413211.2, ENST00000419594.6
      Conserved Domains (4) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04225
      Location:541 → 713
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cd11021
      Location:223 → 363
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cl19115
      Location:377 → 720
      Cupredoxin; Cupredoxin superfamily

    3. NM_001367232.3 → NP_001354161.2  hephaestin isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 6 and 7, encodes isoform e.
      Source sequence(s)
      AL030998, AL157698, KF459144
      Consensus CDS
      CCDS14384.4
      UniProtKB/Swiss-Prot
      B1AJX8, D3DVT7, E9PHN8, O75180, Q6UW45, Q9BQS7, Q9C058
      UniProtKB/TrEMBL
      A0A0C4DG76, Q1HE23
      Conserved Domains (6) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 572
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:733 → 905
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cd11021
      Location:223 → 363
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cd11022
      Location:575 → 718
      CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:920 → 1063
      Cupredoxin; Cupredoxin superfamily

    4. NM_001367233.3 → NP_001354162.2  hephaestin isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 5 and 7, encodes isoform e.
      Source sequence(s)
      AL030998, AL157698, KF459144
      Consensus CDS
      CCDS14384.4
      UniProtKB/Swiss-Prot
      B1AJX8, D3DVT7, E9PHN8, O75180, Q6UW45, Q9BQS7, Q9C058
      UniProtKB/TrEMBL
      A0A0C4DG76, Q1HE23
      Related
      ENSP00000343939.2, ENST00000343002.7
      Conserved Domains (6) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 572
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:733 → 905
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cd11021
      Location:223 → 363
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cd11022
      Location:575 → 718
      CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:920 → 1063
      Cupredoxin; Cupredoxin superfamily

    5. NM_001367234.3 → NP_001354163.2  hephaestin isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 5 and 6, encodes isoform e.
      Source sequence(s)
      AL030998, AL157698, KF459144
      Consensus CDS
      CCDS14384.4
      UniProtKB/Swiss-Prot
      B1AJX8, D3DVT7, E9PHN8, O75180, Q6UW45, Q9BQS7, Q9C058
      UniProtKB/TrEMBL
      A0A0C4DG76, Q1HE23
      Related
      ENST00000683420.1
      Conserved Domains (6) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 572
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:733 → 905
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cd11021
      Location:223 → 363
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cd11022
      Location:575 → 718
      CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:920 → 1063
      Cupredoxin; Cupredoxin superfamily

    6. NM_001367236.3 → NP_001354165.2  hephaestin isoform f precursor

      Status: REVIEWED

      Source sequence(s)
      AL030998, AL157698, KF459144
      UniProtKB/TrEMBL
      A0A0C4DG76
      Conserved Domains (6) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 570
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:731 → 903
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cd11021
      Location:223 → 363
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cd11022
      Location:573 → 716
      CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:918 → 1061
      Cupredoxin; Cupredoxin superfamily

    7. NM_001367238.3 → NP_001354167.2  hephaestin isoform g precursor

      Status: REVIEWED

      Source sequence(s)
      AL030998, AL157698, KF459144
      Consensus CDS
      CCDS94623.1
      UniProtKB/TrEMBL
      A0A0C4DG76, Q5JZ08
      Related
      ENSP00000398078.2, ENST00000425114.2
      Conserved Domains (5) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 572
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:662 → 834
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cd11021
      Location:223 → 363
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cl19115
      Location:849 → 992
      Cupredoxin; Cupredoxin superfamily

    8. NM_001367239.3 → NP_001354168.2  hephaestin isoform h precursor

      Status: REVIEWED

      Source sequence(s)
      AL030998, AL157698, KF459144
      UniProtKB/TrEMBL
      A0A0C4DG76
      Conserved Domains (5) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 572
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:662 → 834
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cd11021
      Location:223 → 363
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cl19115
      Location:849 → 992
      Cupredoxin; Cupredoxin superfamily

    9. NM_001367240.3 → NP_001354169.2  hephaestin isoform i precursor

      Status: REVIEWED

      Source sequence(s)
      AL030998, AL157698, KF459144
      UniProtKB/TrEMBL
      A0A0C4DG76
      Related
      ENSP00000396907.2, ENST00000458621.6
      Conserved Domains (5) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 572
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd11021
      Location:223 → 363
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cd11022
      Location:575 → 718
      CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:733 → 854
      Cupredoxin; Cupredoxin superfamily

    10. NM_001367241.3 → NP_001354170.2  hephaestin isoform j precursor

      Status: REVIEWED

      Source sequence(s)
      AL030998, AL157698, KF459144
      UniProtKB/TrEMBL
      A0A0C4DG76
      Conserved Domains (5) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 572
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd11021
      Location:223 → 363
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cd11022
      Location:575 → 718
      CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:733 → 854
      Cupredoxin; Cupredoxin superfamily

    11. NM_001367242.2 → NP_001354171.1  hephaestin isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variant 2, encodes isoform b.
      Source sequence(s)
      AL030998, AL157698, KF459144
      Consensus CDS
      CCDS14385.1
      UniProtKB/TrEMBL
      A0A804HK72
      Conserved Domains (4) summary
      cd04224
      Location:110 → 305
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:466 → 638
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cd11022
      Location:308 → 451
      CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:653 → 796
      Cupredoxin; Cupredoxin superfamily

    12. NM_001367243.3 → NP_001354172.2  hephaestin isoform k precursor

      Status: REVIEWED

      Source sequence(s)
      AL030998, AL157698, KF459144
      Conserved Domains (3) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd11021
      Location:223 → 363
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cl19115
      Location:377 → 502
      Cupredoxin; Cupredoxin superfamily

    13. NM_014799.4 → NP_055614.1  hephaestin isoform b

      See identical proteins and their annotated locations for NP_055614.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2 and 13 both encode the same isoform (b).
      Source sequence(s)
      AB014598, AL157698, BC011561, CN361718
      Consensus CDS
      CCDS14385.1
      UniProtKB/TrEMBL
      A0A804HK72
      Related
      ENSP00000337418.5, ENST00000336279.9
      Conserved Domains (4) summary
      cd04224
      Location:110 → 305
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:466 → 638
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cd11022
      Location:308 → 451
      CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:653 → 796
      Cupredoxin; Cupredoxin superfamily

    14. NM_138737.6 → NP_620074.4  hephaestin isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AL030998, AL157698, KF459144
      Consensus CDS
      CCDS14384.4
      UniProtKB/Swiss-Prot
      B1AJX8, D3DVT7, E9PHN8, O75180, Q6UW45, Q9BQS7, Q9C058
      UniProtKB/TrEMBL
      A0A0C4DG76, Q1HE23
      Related
      ENSP00000430620.2, ENST00000519389.6
      Conserved Domains (6) summary
      cd04222
      Location:26 → 208
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 572
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:733 → 905
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cd11021
      Location:223 → 363
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cd11022
      Location:575 → 718
      CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:920 → 1063
      Cupredoxin; Cupredoxin superfamily

    RNA

    1. NR_159800.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL030998, AL157698, KF459144
      Related
      ENST00000684042.1

    2. NR_159801.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL030998, AL157698, KF459144

    3. NR_159802.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL030998, AL157698, KF459144

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      66162671..66268863
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442695.1 → XP_047298651.1  hephaestin isoform X3

      UniProtKB/TrEMBL
      A0A0C4DG76

    2. XM_047442694.1 → XP_047298650.1  hephaestin isoform X2

      UniProtKB/TrEMBL
      A0A0C4DG76

    3. XM_047442698.1 → XP_047298654.1  hephaestin isoform X9

      UniProtKB/TrEMBL
      A0A0C4DG76

    4. XM_011531075.3 → XP_011529377.1  hephaestin isoform X6

      UniProtKB/TrEMBL
      A0A0C4DG76
      Conserved Domains (5) summary
      cd04222
      Location:80 → 262
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:431 → 626
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd11021
      Location:277 → 417
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cd11022
      Location:629 → 772
      CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:787 → 908
      Cupredoxin; Cupredoxin superfamily

    5. XM_011531074.3 → XP_011529376.1  hephaestin isoform X4

      UniProtKB/TrEMBL
      A0A0C4DG76
      Conserved Domains (5) summary
      cd04222
      Location:80 → 262
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:431 → 626
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:716 → 888
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cd11021
      Location:277 → 417
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cl19115
      Location:903 → 1046
      Cupredoxin; Cupredoxin superfamily

    6. XM_047442697.1 → XP_047298653.1  hephaestin isoform X8

      UniProtKB/TrEMBL
      A0A0C4DG76

    7. XM_011531073.4 → XP_011529375.1  hephaestin isoform X1

      UniProtKB/TrEMBL
      A0A0C4DG76
      Conserved Domains (6) summary
      cd04222
      Location:80 → 262
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:431 → 626
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd04225
      Location:787 → 959
      CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
      cd11021
      Location:277 → 417
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cd11022
      Location:629 → 772
      CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:974 → 1117
      Cupredoxin; Cupredoxin superfamily

    8. XM_017029998.3 → XP_016885487.1  hephaestin isoform X7

      UniProtKB/TrEMBL
      A0A0C4DG76

    9. XM_047442696.1 → XP_047298652.1  hephaestin isoform X5

      UniProtKB/TrEMBL
      A0A0C4DG76

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      64590334..64696504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328224.1 → XP_054184199.1  hephaestin isoform X3

      UniProtKB/TrEMBL
      A0A0C4DG76

    2. XM_054328223.1 → XP_054184198.1  hephaestin isoform X2

      UniProtKB/TrEMBL
      A0A0C4DG76

    3. XM_054328230.1 → XP_054184205.1  hephaestin isoform X9

      UniProtKB/TrEMBL
      A0A0C4DG76

    4. XM_054328227.1 → XP_054184202.1  hephaestin isoform X6

      UniProtKB/TrEMBL
      A0A0C4DG76

    5. XM_054328225.1 → XP_054184200.1  hephaestin isoform X4

      UniProtKB/TrEMBL
      A0A0C4DG76

    6. XM_054328229.1 → XP_054184204.1  hephaestin isoform X8

      UniProtKB/TrEMBL
      A0A0C4DG76

    7. XM_054328222.1 → XP_054184197.1  hephaestin isoform X1

      UniProtKB/TrEMBL
      A0A0C4DG76

    8. XM_054328228.1 → XP_054184203.1  hephaestin isoform X7

      UniProtKB/TrEMBL
      A0A0C4DG76

    9. XM_054328226.1 → XP_054184201.1  hephaestin isoform X5

      UniProtKB/TrEMBL
      A0A0C4DG76
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQS7.3 GenPept UniProtKB/Swiss-Prot:Q9BQS7

    Gene LinkOut

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