Aliases for HEPHL1 Gene

Aliases for HEPHL1 Gene

  • Hephaestin Like 1 2 3 5
  • Hephaestin-Like Protein 1 3 4
  • EC 54
  • EC 54
  • EC 1.-.-.- 4
  • HJDD 3
  • ZP 3

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. Diseases associated with HEPHL1 include Abnormal Hair, Joint Laxity, And Developmental Delay and Pili Torti Developmental Delay Neurological Abnormalities. Among its related pathways are Iron metabolism in placenta. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and ferroxidase activity. An important paralog of this gene is HEPH.

UniProtKB/Swiss-Prot Summary for HEPHL1 Gene

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

Additional gene information for HEPHL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HEPHL1 Gene

Genomics for HEPHL1 Gene

GeneHancer (GH) Regulatory Elements for HEPHL1 Gene

Promoters and enhancers for HEPHL1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J094020 Enhancer 0.7 ENCODE dbSUPER 788.1 +0.3 265 2.9 PRDM10 SCRT2 RFX1 ZNF366 ZNF335 FEZF1 ZNF843 ZNF398 ZBTB21 HEPHL1 lnc-VSTM5-3
GH11J093541 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 21.6 -478.5 -478494 3.4 GTF3C2 SIN3A ZNF24 ZBTB40 CTCF RBPJ SMARCE1 POLR2A CREB1 MIXL1 SMCO4 lnc-SMCO4-1 SLC36A4 MED17 MRE11 SNORA1 ANKRD49 HEPHL1 CEP295 ENSG00000255893
GH11J094127 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.5 +111.3 111273 10.4 SIN3A ZBTB40 ZBTB6 SMARCE1 POLR2A TCF7L2 USF2 CREB1 MYC CC2D1A PANX1 MED17 CEP295 ENSG00000255445 SNORA1 HEPHL1 MRE11 ENSG00000255893 SCARNA9 ANKRD49
GH11J093972 Enhancer 1 Ensembl ENCODE 34 -47.4 -47427 1.9 SMARCE1 CC2D1A TEAD4 MLLT1 CBFA2T2 NCOA6 SMARCA4 TRIM24 GMEB1 IKZF1 HEPHL1 CEP295 MED17 ENSG00000255995 piR-52438-022
GH11J094016 Enhancer 0.6 Ensembl ENCODE dbSUPER 38.1 -2.9 -2908 2.7 ZNF680 RF00994-200 HEPHL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HEPHL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HEPHL1 gene promoter:
  • Bach2
  • FOXD1
  • NF-1
  • Nkx2-2
  • Nkx2-5
  • PPAR-gamma1
  • PPAR-gamma2
  • S8
  • USF-1
  • USF1

Genomic Locations for HEPHL1 Gene

Genomic Locations for HEPHL1 Gene
92,997 bases
Plus strand
92,997 bases
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:
    Recommended name:
    Hephaestin-like protein 1
    Protein Accession:
    Secondary Accessions:
    • Q3C1W7

    Protein attributes for HEPHL1 Gene

    1159 amino acids
    Molecular mass:
    131603 Da
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    Quaternary structure:
    No Data Available

neXtProt entry for HEPHL1 Gene

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 & Families for HEPHL1 Gene

Gene Families for HEPHL1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for HEPHL1 Gene

Suggested Antigen Peptide Sequences for HEPHL1 Gene

GenScript: Design optimal peptide antigens:
  • Hephaestin-like protein 1 (HPHL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the multicopper oxidase family.
  • Belongs to the multicopper oxidase family.
genes like me logo Genes that share domains with HEPHL1: view

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

Phenotypes From GWAS Catalog 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 IBA,IEA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with HEPHL1: view
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

CRISPR Products

Clone Products

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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HEPHL1 gene
Compartment Confidence
plasma membrane 3
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HEPHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HEPHL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HEPHL1 Gene

Pathways & Interactions for HEPHL1 Gene

PathCards logo

SuperPathways for HEPHL1 Gene

SuperPathway 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

Gene Ontology (GO) - Biological Process for HEPHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006825 copper ion transport IEA --
GO:0006826 iron ion transport IBA 21873635
GO:0055072 iron ion homeostasis IBA 21873635
GO:0055114 oxidation-reduction process IC 20685892
genes like me logo Genes that share ontologies with HEPHL1: view

No data available for SIGNOR curated interactions for HEPHL1 Gene

Drugs & Compounds for HEPHL1 Gene

(1) Drugs for HEPHL1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target, cofactor 227
genes like me logo Genes that share compounds with HEPHL1: view

Transcripts for HEPHL1 Gene

mRNA/cDNA for HEPHL1 Gene

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

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for HEPHL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HEPHL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for HEPHL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HEPHL1 Gene:


SOURCE GeneReport for Unigene cluster for HEPHL1 Gene:

genes like me logo Genes that share expression patterns with HEPHL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia HEPHL1 33 32
  • 99.71 (n)
(Canis familiaris)
Mammalia HEPHL1 33 32
  • 89.62 (n)
(Bos Taurus)
Mammalia HEPHL1 33 32
  • 88.9 (n)
(Mus musculus)
Mammalia Hephl1 17 33 32
  • 85.69 (n)
(Rattus norvegicus)
Mammalia Hephl1 32
  • 84.74 (n)
(Monodelphis domestica)
Mammalia HEPHL1 33
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia HEPHL1 33
  • 80 (a)
(Gallus gallus)
Aves HEPHL1 33 32
  • 67.12 (n)
(Anolis carolinensis)
Reptilia -- 33
  • 65 (a)
-- 33
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hephl1 32
  • 64.02 (n)
(Danio rerio)
Actinopterygii LOC101886332 32
  • 60.79 (n)
hephl1 33
  • 56 (a)
HEPHL1 (1 of 3) 33
  • 52 (a)
HEPHL1 (3 of 3) 33
  • 50 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 41 (a)
Species where no ortholog for HEPHL1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for HEPHL1 (if available)
Gene Tree for HEPHL1 (if available)
Evolutionary constrained regions (ECRs) for HEPHL1: view image

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 Variation AA Info Type
rs199856193 pathogenic, Pili torti developmental delay neurological abnormalities 94,111,033(+) T/C coding_sequence_variant, missense_variant
rs1000055720 -- 94,047,323(+) C/T intron_variant
rs1000096570 -- 94,066,043(+) A/C intron_variant
rs1000133748 -- 94,105,005(+) A/T intron_variant
rs1000196413 -- 94,052,997(+) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
dgv697n106 CNV duplication 24896259
esv3579854 CNV loss 25503493
esv3627304 CNV gain 21293372
esv3627305 CNV loss 21293372
esv3627306 CNV gain 21293372
esv3627307 CNV loss 21293372
nsv1046092 CNV loss 25217958
nsv1049467 CNV loss 25217958
nsv1148684 CNV duplication 26484159
nsv508651 CNV deletion 20534489
nsv523082 CNV gain 19592680

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)

Additional Variant Information for HEPHL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for HEPHL1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HEPHL1 Gene - From: OMIM, ClinVar, and GeneCards

Disorder Aliases PubMed IDs
abnormal hair, joint laxity, and developmental delay
  • hjdd
pili torti developmental delay neurological abnormalities
  • pili torti and developmental delay
pili torti
  • twisted hair
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HEPHL1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HEPHL1: view

No data available for 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 JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 56
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 56
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 56

Products for HEPHL1 Gene

Sources for HEPHL1 Gene