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HEPHL1 Gene

protein-coding   GIFtS: 41
GCID: GC11P093754

Hephaestin-Like 1

  Search for HEPHL1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hephaestin-Like 11 2
Hephaestin-Like Protein 12
EC 1.-.-.-3
EC 1.1.1.948
EC 1.16.3.18

External Ids:    HGNC: 304771   Entrez Gene: 3412082   Ensembl: ENSG000001813337   UniProtKB: Q6MZM03   

Export aliases for HEPHL1 gene to outside databases

Previous GC identifers: GC00U920620 GC11P093394 GC11P089829


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HEPHL1 Gene:
HEPHL1 (hephaestin-like 1) is a protein-coding gene. GO annotations related to this gene include copper ion binding and ferroxidase activity. An important paralog of this gene is CP.

UniProtKB/Swiss-Prot: HPHL1_HUMAN, Q6MZM0
Function: May function as a ferroxidase and may be involved in copper transport and homeostasis (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the HEPHL1 gene promoter:
         USF1   NF-1   Nkx2-2   Bach2   FOXD1   Nkx2-5   PPAR-gamma1   S8   USF-1   PPAR-gamma2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for HEPHL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HEPHL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q21   Ensembl cytogenetic band:  11q21   HGNC cytogenetic band: 11q21

HEPHL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HEPHL1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P093754:  view genomic region     (about GC identifiers)

Start:
93,754,378 bp from pter      End:
93,847,374 bp from pter
Size:
92,997 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HPHL1_HUMAN, Q6MZM0 (See protein sequence)
Recommended Name: Hephaestin-like protein 1 precursor  
Size: 1159 amino acids; 131603 Da
Cofactor: Binds 6 copper ions per monomer (By similarity)
Secondary accessions: Q3C1W7

Explore the universe of human proteins at neXtProt for HEPHL1: NX_Q6MZM0

Explore proteomics data for HEPHL1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn161, Asn236, Asn407, Asn589, Asn772, Asn935
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for HEPHL1 (Q6MZM0)
     TFLGLSG  YKKVVYR  HLGILGP 


    See HEPHL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001092142.1  
    ENSEMBL proteins: 
     ENSP00000313699  

    HEPHL1 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for HEPHL1 

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    Search eBioscience for ELISAs for HEPHL1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR011707 Cu-oxidase_3
     IPR011706 Cu-oxidase_2
     IPR008972 Cupredoxin
     IPR002355 Cu_oxidase_Cu_BS

    Graphical View of Domain Structure for InterPro Entry Q6MZM0

    ProtoNet protein and cluster: Q6MZM0

    1 Blocks protein domain: IPB011706 Multicopper oxidase

    UniProtKB/Swiss-Prot: HPHL1_HUMAN, Q6MZM0
    Similarity: Belongs to the multicopper oxidase family
    Similarity: Contains 6 plastocyanin-like domains


    Find genes that share domains with HEPHL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HPHL1_HUMAN, Q6MZM0
    Function: May function as a ferroxidase and may be involved in copper transport and homeostasis (By similarity)

         Enzyme Numbers (IUBMB): EC 1.16.3.12 EC 1.1.1.942 EC 1.-.-.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004322ferroxidase activity IDA--
    GO:0005507copper ion binding IEA--
    GO:0016491oxidoreductase activity ----
         
    Find genes that share ontologies with HEPHL1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HEPHL1
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate HEPHL1 (see all 35):
    hsa-miR-376b hsa-miR-3616-5p hsa-miR-15a hsa-miR-30d hsa-miR-30a hsa-miR-424 hsa-miR-3174 hsa-miR-15b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat HEPHL1

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEPHL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HPHL1_HUMAN, Q6MZM0: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum2
    golgi apparatus2
    plasma membrane2
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with HEPHL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HEPHL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Iron metabolism in placenta
    Iron metabolism in placenta


    1 BioSystems Pathway for HEPHL1
        Iron metabolism in placenta


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HEPHL1
    Interactions:

        Search GeneGlobe Interaction Network for HEPHL1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for HEPHL1 (ENSP000003136994) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SOD1ENSP000002701424STRING: ENSP00000270142
    SOD3ENSP000003715544STRING: ENSP00000371554
    SLC11A2ENSP000002620524STRING: ENSP00000262052
    CCSENSP000003078704STRING: ENSP00000307870
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006825copper ion transport IEA--
    GO:0055114oxidation-reduction process IC--

    Find genes that share ontologies with HEPHL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HEPHL1 (HPHL1)

    1 HMDB Compound for HEPHL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CopperCu (see all 2)7440-50-8--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HEPHL1 gene: 
    NM_001098672.1  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000315765(uc001pep.2)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate HEPHL1 (see all 35):
    hsa-miR-376b hsa-miR-3616-5p hsa-miR-15a hsa-miR-30d hsa-miR-30a hsa-miR-424 hsa-miR-3174 hsa-miR-15b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HEPHL1
      QuantiTect SYBR Green Assays in human, mouse, rat HEPHL1
      QuantiFast Probe-based Assays in human, mouse, rat HEPHL1

    3 AceView cDNA sequences:

    BX641008 AI590879 AW945449 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HEPHL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HEPHL1 Expression
    About this image

    HEPHL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HEPHL1 Protein Expression
        Custom PCR Arrays for HEPHL1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEPHL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HEPHL1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hephl11 , 5 hephaestin-like 11, 5 85.69(n)1
    87.39(a)1
      9 (4.56 cM)5
    2446981  NM_001164797.11  NP_001158269.11 
     150518415 
    chicken
    (Gallus gallus)
    Aves HEPHL11 hephaestin-like 1 67.12(n)
    60.88(a)
      418998  XM_417192.4  XP_417192.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    65(a)
    64(a)
    1 ↔ many
    1 ↔ many
    AAWZ02041777(2166-5180)
    3(195968408-196006010)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hephl11 hephaestin-like 1 64.02(n)
    59.37(a)
      100487896  XM_002939721.2  XP_002939767.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018863321 hephaestin-like protein 1-like 60.79(n)
    55.03(a)
      101886332  XM_005155290.1  XP_005155347.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HEPHL1 gene
    CP2  HEPH2  
    3 SIMAP similar genes for HEPHL1 using alignment to 1 protein entry:     HPHL1_HUMAN:
    CP    HEPH    F8

    Find genes that share paralogs with HEPHL1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HEPHL1 (see all 1948)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1411067621,2
    --93752402(+) ACTGCA/GACCTT 1 -- us2k10--------
    rs108311571,2
    A--93752426(+) caagaA/Gattct 1 -- us2k10--------
    rs1854164491,2
    C--93752452(+) CTAGTA/GGCTGG 1 -- us2k10--------
    rs24627601,2
    C,H--93752592(-) TAATCC/TCAGCA 1 -- us2k17Minor allele frequency- T:0.08NA WA CSA 13
    rs1899272631,2
    --93752679(+) TACCAC/TGTAAG 1 -- us2k10--------
    rs24627591,2
    C,F,H--93752680(-) ACTTAT/CGTGGT 1 -- us2k116Minor allele frequency- C:0.26NS EA NA WA CSA 791
    rs24627581,2
    C,F,H--93752777(-) TGCCAT/CAGCAC 1 -- us2k120Minor allele frequency- C:0.15NS EA NA WA CSA 923
    rs1511825951,2
    --93752995(+) CAAGCA/GATTCT 1 -- us2k10--------
    rs24627571,2
    C,F,A,H--93753037(-) GCAGGT/CGCCTG 1 -- us2k18Minor allele frequency- C:0.12NA WA CSA 17
    rs24600491,2
    C,F,A,H--93753048(+) CACTAT/CGCCCG 1 -- us2k18Minor allele frequency- C:0.12NA WA CSA 17

    HapMap Linkage Disequilibrium report for HEPHL1 (93754378 - 93847374 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for HEPHL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv898173CNV Loss21882294
    nsv898183CNV Loss21882294
    nsv508651CNV Loss20534489
    nsv898184CNV Gain21882294
    nsv523082CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HEPHL1
    DNA2.0 Custom Variant and Variant Library Synthesis for HEPHL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease from the University of Copenhagen DISEASES database for HEPHL1:
    Congenital diaphragmatic hernia

    Find genes that share disorders with HEPHL1           About GenesLikeMe

    Genetic Association Database (GAD): HEPHL1
    Human Genome Epidemiology (HuGE) Navigator: HEPHL1 (2 documents)

    Export disorders for HEPHL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HEPHL1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with HEPHL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 341208 HGNC: 30477 AceView: LOC341208 Ensembl:ENSG00000181333 euGenes: HUgn341208
    ECgene: HEPHL1 H-InvDB: HEPHL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HEPHL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HEPHL1 gene:
    Search GeneIP for patents involving HEPHL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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