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Aliases for HEPHL1 Gene

Aliases for HEPHL1 Gene

  • Hephaestin-Like 1 2 3
  • EC 1.16.3.1 63
  • EC 1.1.1.94 63
  • EC 1.-.-.- 4

External Ids for HEPHL1 Gene

Previous GeneCards Identifiers for HEPHL1 Gene

  • GC00U920620
  • GC11P093394
  • GC11P093754
  • GC11P089829

Summaries for HEPHL1 Gene

GeneCards Summary for HEPHL1 Gene

HEPHL1 (Hephaestin-Like 1) is a Protein Coding gene. Among its related pathways are Iron metabolism in placenta. GO annotations related to this gene include copper ion binding and ferroxidase activity. An important paralog of this gene is HEPH.

UniProtKB/Swiss-Prot for HEPHL1 Gene

  • May function as a ferroxidase and may be involved in copper transport and homeostasis.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEPHL1 Gene

Genomics for HEPHL1 Gene

Regulatory Elements for HEPHL1 Gene

Genomic Location for HEPHL1 Gene

Start:
94,021,212 bp from pter
End:
94,114,208 bp from pter
Size:
92,997 bases
Orientation:
Plus strand

Genomic View for HEPHL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HEPHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEPHL1 Gene

Proteins for HEPHL1 Gene

  • Protein details for HEPHL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6MZM0-HPHL1_HUMAN
    Recommended name:
    Hephaestin-like protein 1
    Protein Accession:
    Q6MZM0
    Secondary Accessions:
    • Q3C1W7

    Protein attributes for HEPHL1 Gene

    Size:
    1159 amino acids
    Molecular mass:
    131603 Da
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378; Note=Binds 6 Cu cations per monomer.;
    Quaternary structure:
    No Data Available

neXtProt entry for HEPHL1 Gene

Proteomics data for HEPHL1 Gene at MOPED

Selected DME Specific Peptides for HEPHL1 Gene

Post-translational modifications for HEPHL1 Gene

  • Glycosylation at Asn161, Asn236, Asn407, Asn589, Asn772, and Asn935
  • Modification sites at PhosphoSitePlus

Other Protein References for HEPHL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for HEPHL1 Gene

Protein Domains for HEPHL1 Gene

Suggested Antigen Peptide Sequences for HEPHL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6MZM0

UniProtKB/Swiss-Prot:

HPHL1_HUMAN :
  • Q6MZM0
Domain:
  • Contains 6 plastocyanin-like domains.
Family:
  • Belongs to the multicopper oxidase family.
genes like me logo Genes that share domains with HEPHL1: view

No data available for Gene Families for HEPHL1 Gene

Function for HEPHL1 Gene

Molecular function for HEPHL1 Gene

UniProtKB/Swiss-Prot Function:
May function as a ferroxidase and may be involved in copper transport and homeostasis.

Enzyme Numbers (IUBMB) for HEPHL1 Gene

Gene Ontology (GO) - Molecular Function for HEPHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004322 ferroxidase activity IDA 20685892
GO:0005507 copper ion binding IEA --
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with HEPHL1: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HEPHL1

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for HEPHL1 Gene

Localization for HEPHL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEPHL1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HEPHL1 Gene COMPARTMENTS Subcellular localization image for HEPHL1 gene
Compartment Confidence
endoplasmic reticulum 2
golgi apparatus 2
plasma membrane 2
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HEPHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HEPHL1: view

Pathways for HEPHL1 Gene

SuperPathways for HEPHL1 Gene

Superpath Contained pathways
1 Iron metabolism in placenta
genes like me logo Genes that share pathways with HEPHL1: view

Pathways by source for HEPHL1 Gene

1 BioSystems pathway for HEPHL1 Gene

Interacting Proteins for HEPHL1 Gene

Gene Ontology (GO) - Biological Process for HEPHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006825 copper ion transport IEA --
GO:0055114 oxidation-reduction process IC 20685892
genes like me logo Genes that share ontologies with HEPHL1: view

Compounds for HEPHL1 Gene

(1) HMDB Compounds for HEPHL1 Gene

Compound Synonyms Cas Number PubMed IDs
Copper
  • Cu
7440-50-8
genes like me logo Genes that share compounds with HEPHL1: view

Transcripts for HEPHL1 Gene

mRNA/cDNA for HEPHL1 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HEPHL1 Gene

Hephaestin-like 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HEPHL1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HEPHL1 Gene

No ASD Table

Relevant External Links for HEPHL1 Gene

GeneLoc Exon Structure for
HEPHL1
ECgene alternative splicing isoforms for
HEPHL1

Expression for HEPHL1 Gene

mRNA expression in normal human tissues for HEPHL1 Gene

mRNA differential expression in normal tissues according to GTEx for HEPHL1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (18.5), Esophagus - Mucosa (10.1), Vagina (6.5), and Minor Salivary Gland (6.2).

Protein differential expression in normal tissues for HEPHL1 Gene

This gene is overexpressed in Hair follicle (42.3) and Synovial fluid (25.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HEPHL1 Gene

SOURCE GeneReport for Unigene cluster for HEPHL1 Gene Hs.669645

genes like me logo Genes that share expressions with HEPHL1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Expression partners for HEPHL1 Gene

Orthologs for HEPHL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HEPHL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HEPHL1 35
  • 88.9 (n)
  • 89.19 (a)
HEPHL1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HEPHL1 35
  • 89.62 (n)
  • 90.34 (a)
HEPHL1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hephl1 35
  • 85.69 (n)
  • 87.39 (a)
Hephl1 16
Hephl1 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HEPHL1 35
  • 99.71 (n)
  • 99.65 (a)
HEPHL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hephl1 35
  • 84.74 (n)
  • 87.41 (a)
oppossum
(Monodelphis domestica)
Mammalia HEPHL1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEPHL1 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEPHL1 35
  • 67.12 (n)
  • 60.88 (a)
HEPHL1 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 64 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hephl1 35
  • 64.02 (n)
  • 59.37 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101886332 35
  • 60.79 (n)
  • 55.03 (a)
hephl1 36
  • 56 (a)
OneToMany
HEPHL1 (1 of 3) 36
  • 52 (a)
OneToMany
HEPHL1 (3 of 3) 36
  • 50 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for HEPHL1:
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HEPHL1 Gene

ENSEMBL:
Gene Tree for HEPHL1 (if available)
TreeFam:
Gene Tree for HEPHL1 (if available)

Paralogs for HEPHL1 Gene

Paralogs for HEPHL1 Gene

Selected SIMAP similar genes for HEPHL1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HEPHL1: view

Variants for HEPHL1 Gene

Sequence variations from dbSNP and Humsavar for HEPHL1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs908750 -- 94,069,137(+) TTAGC(A/T)GCCAT intron-variant
rs908751 -- 94,069,193(+) AAGCT(A/G)GTATT intron-variant
rs949452 -- 94,032,931(+) CATGC(A/G)TACAG intron-variant
rs982543 -- 94,071,669(+) CTGGG(C/T)TCACA intron-variant
rs982544 -- 94,071,852(+) GAGGA(A/G)TTTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HEPHL1 Gene

Variant ID Type Subtype PubMed ID
nsv898173 CNV Loss 21882294
nsv898183 CNV Loss 21882294
nsv898184 CNV Gain 21882294
nsv523082 CNV Gain 19592680
nsv508651 CNV Loss 20534489

Relevant External Links for HEPHL1 Gene

HapMap Linkage Disequilibrium report
HEPHL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEPHL1 Gene

Disorders for HEPHL1 Gene

(1) University of Copenhagen DISEASES for HEPHL1 Gene

Relevant External Links for HEPHL1

Genetic Association Database (GAD)
HEPHL1
Human Genome Epidemiology (HuGE) Navigator
HEPHL1
genes like me logo Genes that share disorders with HEPHL1: view

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for HEPHL1 Gene

Publications for HEPHL1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  2. Identification of zyklopen, a new member of the vertebrate multicopper ferroxidase family, and characterization in rodents and human cells. (PMID: 20685892) Chen H. … McArdle H.J. (J. Nutr. 2010) 3
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor T.D. … Sakaki Y. (Nature 2006) 4
  5. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4

Products for HEPHL1 Gene

Sources for HEPHL1 Gene

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