Human Gene HEPH (ENST00000519389.6) from GENCODE V44
  Description: Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA. (from RefSeq NM_138737)
RefSeq Summary (NM_138737): 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].
Gencode Transcript: ENST00000519389.6
Gencode Gene: ENSG00000089472.18
Transcript (Including UTRs)
   Position: hg38 chrX:66,162,671-66,268,867 Size: 106,197 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg38 chrX:66,170,571-66,266,672 Size: 96,102 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:66,162,671-66,268,867)mRNA (may differ from genome)Protein (1158 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HEPH_HUMAN
DESCRIPTION: RecName: Full=Hephaestin; EC=1.-.-.-; Flags: Precursor;
FUNCTION: May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to ferroportin 1.
COFACTOR: Binds 6 copper ions per monomer (By similarity).
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential).
TISSUE SPECIFICITY: Detected in breast, colon, bone trabecular cells and fibroblasts.
SIMILARITY: Belongs to the multicopper oxidase family.
SIMILARITY: Contains 6 plastocyanin-like domains.
SEQUENCE CAUTION: Sequence=AAQ89349.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=EAX05385.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=EAX05388.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=Wikipedia; Note=Hephaestin entry; URL="http://en.wikipedia.org/wiki/Hephaestin";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HEPH
Diseases sorted by gene-association score: hemochromatosis (9), deficiency anemia (3), macular degeneration, age-related, 1 (2), epileptic encephalopathy, early infantile, 36 (2), atransferrinemia (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.36 RPKM in Colon - Transverse
Total median expression: 332.87 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -57.50219-0.263 Picture PostScript Text
3' UTR -598.302195-0.273 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011706 - Cu-oxidase_2
IPR011707 - Cu-oxidase_3
IPR002355 - Cu_oxidase_Cu_BS
IPR008972 - Cupredoxin

Pfam Domains:
PF07731 - Multicopper oxidase
PF07732 - Multicopper oxidase

ModBase Predicted Comparative 3D Structure on Q9BQS7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004322 ferroxidase activity
GO:0005507 copper ion binding
GO:0008198 ferrous iron binding
GO:0016491 oxidoreductase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006811 ion transport
GO:0006825 copper ion transport
GO:0006826 iron ion transport
GO:0006879 cellular iron ion homeostasis
GO:0055072 iron ion homeostasis
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC011561 - Homo sapiens hephaestin, mRNA (cDNA clone MGC:20135 IMAGE:4644318), complete cds.
AK311043 - Homo sapiens cDNA, FLJ18085.
AB014598 - Homo sapiens KIAA0698 mRNA for KIAA0698 protein.
AY358990 - Homo sapiens clone DNA104875 HEPH (UNQ2562) mRNA, complete cds.
AK307761 - Homo sapiens cDNA, FLJ97709.
AJ296162 - Homo sapiens mRNA for hephaestin (HEPH gene).
AF148860 - Homo sapiens hephaestin (HEPH) mRNA, complete cds.
EU176678 - Synthetic construct Homo sapiens clone IMAGE:100011477; FLH184600.01L; RZPDo839E02255D hephaestin (HEPH) gene, encodes complete protein.
EU831491 - Synthetic construct Homo sapiens clone HAIB:100066520; DKFZo008H0917 hephaestin protein (HEPH) gene, encodes complete protein.
EU831578 - Synthetic construct Homo sapiens clone HAIB:100066607; DKFZo004H0918 hephaestin protein (HEPH) gene, encodes complete protein.
DQ893628 - Synthetic construct clone IMAGE:100006258; FLH184601.01X; RZPDo839H09144D hephaestin (HEPH) gene, encodes complete protein.
AB527160 - Synthetic construct DNA, clone: pF1KA0698, Homo sapiens HEPH gene for hephaestin, without stop codon, in Flexi system.
JD422844 - Sequence 403868 from Patent EP1572962.
JD328132 - Sequence 309156 from Patent EP1572962.
JD278583 - Sequence 259607 from Patent EP1572962.
JD233950 - Sequence 214974 from Patent EP1572962.
JD171029 - Sequence 152053 from Patent EP1572962.
JD556507 - Sequence 537531 from Patent EP1572962.
JD519283 - Sequence 500307 from Patent EP1572962.
JD509391 - Sequence 490415 from Patent EP1572962.
JD146666 - Sequence 127690 from Patent EP1572962.
JD320841 - Sequence 301865 from Patent EP1572962.
JD265319 - Sequence 246343 from Patent EP1572962.
JD393131 - Sequence 374155 from Patent EP1572962.
JD214415 - Sequence 195439 from Patent EP1572962.
JD377792 - Sequence 358816 from Patent EP1572962.
JD268577 - Sequence 249601 from Patent EP1572962.
JD086560 - Sequence 67584 from Patent EP1572962.
JD467999 - Sequence 449023 from Patent EP1572962.
AK294278 - Homo sapiens cDNA FLJ61228 complete cds, highly similar to Hephaestin precursor (EC 1.-.-.-).
AK316231 - Homo sapiens cDNA, FLJ79130 complete cds, highly similar to Hephaestin precursor (EC 1.-.-.-).
AK295456 - Homo sapiens cDNA FLJ60263 complete cds, highly similar to Hephaestin precursor (EC 1.-.-.-).
AK022472 - Homo sapiens cDNA FLJ12410 fis, clone MAMMA1002938, highly similar to Homo sapiens mRNA for KIAA0698 protein.
JD194136 - Sequence 175160 from Patent EP1572962.
JD355105 - Sequence 336129 from Patent EP1572962.
JD123164 - Sequence 104188 from Patent EP1572962.
JD067371 - Sequence 48395 from Patent EP1572962.
AF075034 - Homo sapiens full length insert cDNA YN55G07.
JD277743 - Sequence 258767 from Patent EP1572962.
JD510020 - Sequence 491044 from Patent EP1572962.
JD046343 - Sequence 27367 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BQS7 (Reactome details) participates in the following event(s):

R-HSA-442368 SLC40A1:HEPH:6Cu2+ transports Fe2+ from cytosol to extracellular region
R-HSA-917933 SLC40A1:HEPH:6Cu2+ oxidises 4Fe2+ to 4Fe3+
R-HSA-425410 Metal ion SLC transporters
R-HSA-917937 Iron uptake and transport
R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds
R-HSA-382551 Transport of small molecules
R-HSA-425407 SLC-mediated transmembrane transport

-  Other Names for This Gene
  Alternate Gene Symbols: B1AJX8, D3DVT7, ENST00000519389.1, ENST00000519389.2, ENST00000519389.3, ENST00000519389.4, ENST00000519389.5, HEPH_HUMAN, KIAA0698, NM_138737, O75180, Q6UW45, Q9BQS7, Q9C058, uc011moz.1, uc011moz.2, uc011moz.3, uc011moz.4, uc011moz.5, UNQ2562/PRO6242
UCSC ID: ENST00000519389.6
RefSeq Accession: NM_138737
Protein: Q9BQS7 (aka HEPH_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.