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Aliases for HEPH Gene

Aliases for HEPH Gene

  • Hephaestin 2 3
  • EC 1.16.3.1 63
  • EC 1.-.-.- 4
  • KIAA0698 4
  • CPL 3

External Ids for HEPH Gene

Previous GeneCards Identifiers for HEPH Gene

  • GC0XP061603
  • GC0XP062847
  • GC0XP063615
  • GC0XP064249
  • GC0XP065165
  • GC0XP065299
  • GC0XP059211

Summaries for HEPH Gene

Entrez Gene Summary for HEPH Gene

  • 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]

GeneCards Summary for HEPH Gene

HEPH (Hephaestin) is a Protein Coding gene. Diseases associated with HEPH include congenital disorder of glycosylation, type ie and atransferrinemia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Mineral absorption. GO annotations related to this gene include oxidoreductase activity and ferrous iron binding. An important paralog of this gene is HEPHL1.

UniProtKB/Swiss-Prot for HEPH Gene

  • 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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEPH Gene

Genomics for HEPH Gene

Regulatory Elements for HEPH Gene

Genomic Location for HEPH Gene

Chromosome:
X
Start:
66,162,519 bp from pter
End:
66,268,867 bp from pter
Size:
106,349 bases
Orientation:
Plus strand

Genomic View for HEPH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HEPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEPH Gene

Proteins for HEPH Gene

  • Protein details for HEPH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQS7-HEPH_HUMAN
    Recommended name:
    Hephaestin
    Protein Accession:
    Q9BQS7
    Secondary Accessions:
    • B1AJX8
    • D3DVT7
    • E9PHN8
    • O75180
    • Q6UW45
    • Q9C058

    Protein attributes for HEPH Gene

    Size:
    1158 amino acids
    Molecular mass:
    130449 Da
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378; Note=Binds 6 Cu cations per monomer.;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ89349.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAX05385.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAX05388.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for HEPH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HEPH Gene

Proteomics data for HEPH Gene at MOPED

Selected DME Specific Peptides for HEPH Gene

Post-translational modifications for HEPH Gene

  • Glycosylation at Asn 164, Asn 236, Asn 588, Asn 714, Asn 758, Asn 829, Asn 873, Asn 931, and Ser 1070
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for HEPH Gene

Protein Domains for HEPH Gene

Suggested Antigen Peptide Sequences for HEPH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BQS7

UniProtKB/Swiss-Prot:

HEPH_HUMAN :
  • Contains 6 plastocyanin-like domains.
  • Belongs to the multicopper oxidase family.
Domain:
  • Contains 6 plastocyanin-like domains.
Family:
  • Belongs to the multicopper oxidase family.
genes like me logo Genes that share domains with HEPH: view

No data available for Gene Families for HEPH Gene

Function for HEPH Gene

Molecular function for HEPH Gene

UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for HEPH Gene

Gene Ontology (GO) - Molecular Function for HEPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004322 ferroxidase activity IMP 22961397
GO:0005507 copper ion binding IMP 22961397
GO:0008198 ferrous iron binding IMP 22961397
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with HEPH: view
genes like me logo Genes that share phenotypes with HEPH: view

Animal Models for HEPH Gene

MGI Knock Outs for HEPH:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for HEPH Gene

Localization for HEPH Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEPH Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HEPH Gene COMPARTMENTS Subcellular localization image for HEPH gene
Compartment Confidence
plasma membrane 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for HEPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 20019163
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IDA 20019163
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with HEPH: view

Pathways & Interactions for HEPH Gene

genes like me logo Genes that share pathways with HEPH: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for HEPH Gene

Gene Ontology (GO) - Biological Process for HEPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006825 copper ion transport IEA --
GO:0006826 iron ion transport IMP 22961397
GO:0006879 cellular iron ion homeostasis TAS --
GO:0055085 transmembrane transport TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HEPH: view

No data available for SIGNOR curated interactions for HEPH Gene

Drugs & Compounds for HEPH Gene

(2) Drugs for HEPH Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved Pharma 957
Copper Pharma 143

(1) Additional Compounds for HEPH Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with HEPH: view

Transcripts for HEPH Gene

Unigene Clusters for HEPH Gene

Hephaestin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HEPH Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1: - - -
SP2: -
SP3:
SP4: - -

Relevant External Links for HEPH Gene

GeneLoc Exon Structure for
HEPH
ECgene alternative splicing isoforms for
HEPH

Expression for HEPH Gene

mRNA expression in normal human tissues for HEPH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HEPH Gene

This gene is overexpressed in Colon - Transverse (x5.2) and Colon - Sigmoid (x4.4).

Protein differential expression in normal tissues from HIPED for HEPH Gene

This gene is overexpressed in Heart (23.6), Fetal gut (14.9), and Colon (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HEPH Gene



SOURCE GeneReport for Unigene cluster for HEPH Gene Hs.31720

mRNA Expression by UniProt/SwissProt for HEPH Gene

Q9BQS7-HEPH_HUMAN
Tissue specificity: Detected in breast, colon, bone trabecular cells and fibroblasts
genes like me logo Genes that share expression patterns with HEPH: view

Protein tissue co-expression partners for HEPH Gene

Primer Products

In Situ Assay Products

Orthologs for HEPH Gene

This gene was present in the common ancestor of chordates.

Orthologs for HEPH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HEPH 35
  • 88.4 (n)
  • 88.99 (a)
HEPH 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HEPH 35
  • 88.84 (n)
  • 88.96 (a)
HEPH 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Heph 35
  • 85.35 (n)
  • 85.73 (a)
Heph 16
Heph 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HEPH 35
  • 96.04 (n)
  • 95.03 (a)
rat
(Rattus norvegicus)
Mammalia Heph 35
  • 85.31 (n)
  • 84.96 (a)
oppossum
(Monodelphis domestica)
Mammalia HEPH 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEPH 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEPH 35
  • 66.03 (n)
  • 64.43 (a)
HEPH 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEPH 36
  • 59 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for HEPH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HEPH Gene

ENSEMBL:
Gene Tree for HEPH (if available)
TreeFam:
Gene Tree for HEPH (if available)

Paralogs for HEPH Gene

Paralogs for HEPH Gene

(7) SIMAP similar genes for HEPH Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with HEPH: view

Variants for HEPH Gene

Sequence variations from dbSNP and Humsavar for HEPH Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs583238 -- 66,215,747(-) catca(A/G)agggt intron-variant
rs622743 -- 66,240,557(-) tttac(A/G)ttgta intron-variant
rs642933 -- 66,222,762(+) agagg(A/T)acttt intron-variant
rs651494 -- 66,254,932(+) AGATC(C/T)TAAAG intron-variant
rs684020 -- 66,224,800(-) aaaaa(A/G)agtgt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HEPH Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER Inversion 17803354

Variation tolerance for HEPH Gene

Residual Variation Intolerance Score: 18.05% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.86; 48.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HEPH Gene

HapMap Linkage Disequilibrium report
HEPH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEPH Gene

Disorders for HEPH Gene

MalaCards: The human disease database

(5) MalaCards diseases for HEPH Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ie
  • congenital disorder of glycosylation, type is
atransferrinemia
  • familial hypotransferrinemia
hemochromatosis
  • hfe hemochromatosis, modifier of
oral cavity cancer
  • malignant tumor of the floor of the mouth
macular degeneration, age-related, 1
  • macular degeneration, age-related, 2
- elite association
Search HEPH in MalaCards View complete list of genes associated with diseases

Relevant External Links for HEPH

Genetic Association Database (GAD)
HEPH
Human Genome Epidemiology (HuGE) Navigator
HEPH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HEPH
genes like me logo Genes that share disorders with HEPH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HEPH Gene

Publications for HEPH Gene

  1. Analysis of the high-affinity iron uptake system at the Chlamydomonas reinhardtii plasma membrane. (PMID: 20348389) Terzulli A. … Kosman D.J. (Eukaryotic Cell 2010) 23 67
  2. Ferroportin 1 but not hephaestin contributes to iron accumulation in a cell model of Parkinson's disease. (PMID: 19913091) Song N. … Xie J. (Free Radic. Biol. Med. 2010) 23 67
  3. 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. (PMID: 20019163) Hudson D.M. … MacGillivray R.T. (Am. J. Physiol. Gastrointest. Liver Physiol. 2010) 23 67
  4. The iron regulatory hormone hepcidin reduces ferroportin 1 content and iron release in H9C2 cardiomyocytes. (PMID: 19027283) Ge X.H. … Ke Y. (J. Nutr. Biochem. 2009) 23 67
  5. Differing expression of genes involved in non-transferrin iron transport across plasma membrane in various cell types under iron deficiency and excess. (PMID: 18830567) Balusikova K. … Kovar J. (Mol. Cell. Biochem. 2009) 23 67

Products for HEPH Gene

Sources for HEPH Gene

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