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Aliases for HEPHL1 Gene

Aliases for HEPHL1 Gene

  • Hephaestin Like 1 2 3 5
  • 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 oxidoreductase activity 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

Promoters for HEPHL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HEPHL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HEPHL1 Gene

Chromosome:
11
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

Genes around HEPHL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEPHL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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 Asn 161, Asn 236, Asn 407, Asn 589, Asn 772, and Asn 935
  • Modification sites at PhosphoSitePlus

Other Protein References for HEPHL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families 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 :
  • 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 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:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with HEPHL1: view

Phenotypes for HEPHL1 Gene

MGI mutant phenotypes for HEPHL1:
inferred from 2 alleles
genes like me logo Genes that share phenotypes with HEPHL1: view

Animal Models for HEPHL1 Gene

MGI Knock Outs for HEPHL1:

Animal Model Products

  • Taconic Biosciences Mouse Models for HEPHL1

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for HEPHL1 Gene

Pathways & Interactions 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

None

No data available for SIGNOR curated interactions for HEPHL1 Gene

Drugs & Compounds for HEPHL1 Gene

(1) Drugs for HEPHL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Pharma 158
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:

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) (x18.5), Esophagus - Mucosa (x10.1), Vagina (x6.5), and Minor Salivary Gland (x6.2).

Protein differential expression in normal tissues from HIPED for HEPHL1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with HEPHL1: view

Primer Products

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 Protein tissue co-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
chimpanzee
(Pan troglodytes)
Mammalia HEPHL1 35
  • 99.71 (n)
  • 99.65 (a)
HEPHL1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HEPHL1 36
  • 89 (a)
OneToOne
HEPHL1 35
  • 88.9 (n)
  • 89.19 (a)
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
oppossum
(Monodelphis domestica)
Mammalia HEPHL1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEPHL1 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hephl1 35
  • 84.74 (n)
  • 87.41 (a)
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 hephl1 36
  • 56 (a)
OneToMany
HEPHL1 (1 of 3) 36
  • 52 (a)
OneToMany
HEPHL1 (3 of 3) 36
  • 50 (a)
OneToMany
LOC101886332 35
  • 60.79 (n)
  • 55.03 (a)
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

(3) 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
rs1945783 - 94,064,453(+) GCACC(A/G)ACCCT reference, missense
rs12291622 - 94,070,451(+) AGAGG(C/T)GCTAC reference, missense
rs908751 -- 94,069,193(+) AAGCT(A/G)GTATT 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

Variation tolerance for HEPHL1 Gene

Residual Variation Intolerance Score: 93.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.44; 63.98% of all genes are more intolerant (likely to be disease-causing)

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

Relevant External Links for HEPHL1

Genetic Association Database (GAD)
HEPHL1
Human Genome Epidemiology (HuGE) Navigator
HEPHL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HEPHL1

No disorders were found for HEPHL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 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. 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

Products for HEPHL1 Gene

Sources for HEPHL1 Gene

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