HEPHL1 Gene
protein-coding GIFtS: 41
GCID: GC11P093754
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hephaestin-like 1
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Aliases
for HEPHL1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Hephaestin-Like 11 2 | | DKFZp686F221901 | | Hephaestin-Like Protein 12 | | EC 1.-.-.-3 | | EC 1.1.1.948 | | EC 1.16.3.18 |
Export aliases for HEPHL1 gene to outside databasesPrevious GC identifers: GC00U920620 GC11P093394 GC11P089829 |
Summaries
for HEPHL1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: HPHL1_HUMAN, Q6MZM0Function: May function as a ferroxidase and may be involved in copper transport and homeostasis (By similarity)
|
Genomic Views
for HEPHL1 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_167190.1
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for HEPHL1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 11q21HEPHL1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11P093754: view genomic region
(about GC identifiers)
Start:
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93,754,378 bp from pter |
End:
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93,847,374 bp from pter |
Size:
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92,997 bases |
Orientation:
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plus strand |
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Proteins
for HEPHL1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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)
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Secondary accessions: Q3C1W7Explore the universe of human proteins at neXtProt for HEPHL1: NX_Q6MZM0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6MZM0
3 DME Specific Peptides for HEPHL1 (Q6MZM0)
HEPHL1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001092142.1
ENSEMBL proteins: ENSP00000313699
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- |
HEPHL1 for ontologies About GeneDecksing
HEPHL1 Antibody Products:
Assay Products for HEPHL1: |
Protein
Domains /
Families
for HEPHL1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HEPHL1 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q6MZM0ProtoNet protein and cluster: Q6MZM0 1 Blocks protein family: IPB011706 Multicopper oxidase
UniProtKB/Swiss-Prot: HPHL1_HUMAN, Q6MZM0Similarity: Belongs to the multicopper oxidase familySimilarity: Contains 6 plastocyanin-like domains |
Function
for HEPHL1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: HPHL1_HUMAN, Q6MZM0Function: 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
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEPHL1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HEPHL1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HEPHL1 (NM_001098672) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HEPHL1 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HEPHL1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEPHL1 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
HEPHL1 for ontologies About GeneDecksing
|
Pathways & Interactions
for HEPHL1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | iron metabolism in placenta | |
1  BioSystems Pathway for HEPHL1
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HEPHL1
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for HEPHL1 (ENSP000003136994) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006825 | copper ion transport |
IEA | -- | | GO:0055114 | oxidation-reduction process |
IC | -- |
HEPHL1 for ontologies About GeneDecksing
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Drugs & Compounds
for HEPHL1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for HEPHL1
1 HMDB Compound for HEPHL1 About this table
Search CenterWatch for drugs/clinical trials and news about HEPHL1 / HPHL1
|
Transcripts
for HEPHL1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for HEPHL1 gene: NM_001098672.1 Unigene Cluster for HEPHL1: Hephaestin-like 1 Hs.669645 [show with all ESTs]Unigene Representative Sequence: NM_0010986721 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000315765(uc001pep.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEPHL1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HEPHL1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: HEPHL1 (NM_001098672) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HEPHL1 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HEPHL1 |
Additional cDNA sequence: AB231719.1 BX641008.1 3 DOTS entries: DT.120741471 DT.101969384 DT.120741472 3 AceView cDNA sequences: AI590879 BX641008 AW945449
GeneLoc Exon Structure
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Expression
for HEPHL1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HEPHL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See HEPHL1 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.669645
SABiosciences Custom PCR Arrays for HEPHL1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HEPHL1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HEPHL1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HEPHL1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HEPHL1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEPHL1 |
Orthologs
for HEPHL1 gene
(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)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for HEPHL1 gene from 3/13 species (see all 13) About this table
ENSEMBL Gene Tree for HEPHL1 (if available)
TreeFam Gene Tree for HEPHL1 (if available) |
Paralogs
for HEPHL1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for HEPHL1 gene
- CP2 F52 F82 HEPH2
3 SIMAP similar genes for HEPHL1 using alignment to 1 protein entry: HPHL1_HUMAN:CP HEPH F8
HEPHL1 for paralogs About GeneDecksing
|
Genomic Variants
for HEPHL1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for HEPHL1 (93754378 - 93847374 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HEPHL1: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HEPHL1 |
|
Disorders
/ Diseases
for HEPHL1 gene
(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.)
About This Section
|
HEPHL1 for disorders About GeneDecksing
2  diseases for HEPHL1: About MalaCardscongenital diaphragmatic hernia hernia
1 disease from the University of Copenhagen DISEASES database for HEPHL1:Congenital diaphragmatic hernia Human Genome Epidemiology (HuGE) Navigator: HEPHL1 (2 documents)
Export disorders for HEPHL1 gene to outside databases
|
Publications
for HEPHL1 gene (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)
About This Section
|
PubMed articles for HEPHL1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with HEPHL1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
- Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)
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External Searches for HEPHL1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing HEPHL1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HEPHL1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HEPHL1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for HEPHL1 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| 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
|
Products
for HEPHL1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for HEPHL1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HEPHL1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HEPHL1 | | | OriGene Protein Over-expression Lysate for HEPHL1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for HEPHL1 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HEPHL1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEPHL1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for HEPHL1 | | OriGene Custom Protein Services for HEPHL1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HEPHL1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HEPHL1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HEPHL1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HEPHL1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HEPHL1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HEPHL1 |
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 |  |  |  | |
| | | | Search Tocris compounds for HEPHL1 |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEPHL1 |
|  |  |  | | | | Search ThermoFisher Antibodies for HEPHL1 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HEPHL1 |
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