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HEPH hephaestin [ Homo sapiens (human) ]

Gene ID: 9843, updated on 3-Apr-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
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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Location:
Xq12
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (66162671..66268863)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (64590334..64696504)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. 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
  2. An X chromosome association scan of the Norfolk Island genetic isolate provides evidence for a novel migraine susceptibility locus at Xq12. Maher BH, et al. PLoS One, 2012. PMID 22666411, Free PMC Article
  3. 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
  4. 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
  5. Duodenal Dcytb and hephaestin mRNA expression are not significantly modulated by variations in body iron homeostasis. Gleeson F, et al. Blood Cells Mol Dis, 2005 Nov-Dec. PMID 16137899

See all (35) 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)

Genotypes

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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables ferrous iron binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables ferroxidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in copper ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in iron ion transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in iron ion transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
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

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
    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_2023_10

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

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

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

  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

  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

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

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

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

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

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

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

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

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

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

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

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