HPE1 Locus
genetic locus GIFtS: 11
GCID: GC21U990008
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Holoprosencephaly 1, Alobar
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Aliases
for HPE1 gene
(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 |
|---|
| Holoprosencephaly 1, Alobar1 2 | | HPEC2 |
Export aliases for HPE1 gene to outside databases |
Summaries
for HPE1 gene(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 HPE1 Gene:
HPE1 (holoprosencephaly 1, alobar) is a genetic locus. Diseases associated with HPE1 include holoprosencephaly-1.
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Genomic Views
for HPE1 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 75),
Regulatory elements and Epigenetics data according to
QIAGEN, and/or
SwitchGear Genomics)
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TryGeneCards Plus | Regulatory elements:
 Search for regulatory transcription factor binding sites for HPE1
Other transcription factors
Search Chromatin IP Primers for HPE1
Epigenetics:
| | DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HPE1 |
Genomic Location:
Chromosome:21
Entrez Gene cytogenetic band: 21q22.3 HGNC cytogenetic band: 21q22.3GeneLoc information about chromosome 21 |
Proteins
for HPE1 gene
(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, and/or
Cloud-Clone Corp.,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Cloud-Clone Corp.,
Antibodies by
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
LSBio,
Abcam, and/or
Cloud-Clone Corp.)
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UniProtKB: --
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Domains /
Families
for HPE1 gene(According to HGNC, IUPHAR, InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
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Function
for HPE1 gene
(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,
and Vector BioLabs,
Cell Lines from GenScript,
ESI BIO,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Apr 2014 via
Entrez Gene.)
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Animal Models:
Inhib. RNA
Products: |  | Browse OriGene RNAi
| | | Predesigned siRNA for gene silencing in human, mouse, rat HPE1 |
Cell Line
Products: |  | GenScript Custom overexpressing Cell Line Services for HPE1 | |  | Browse ESI BIO Cell Lines and PureStem Progenitors for HPE1  | In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPE1 |
Localization
for HPE1 gene
(According to UniProtKB, COMPARTMENTS Subcellular localization database,
Ontologies according to Gene Ontology Consortium 01 Apr 2014 via
Entrez Gene.)
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Pathways & Interactions
for HPE1 gene
(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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Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HPE1
Interactions:
Search GeneGlobe Interaction Network for HPE1
|
Drugs & Compounds
for HPE1 gene(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 compounds at ApexBio
 Browse Tocris compounds for HPE1
|
Transcripts
for HPE1 gene(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,
Conferences by KenesGroup,
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,
Primers from
OriGene, and/or
QIAGEN
)
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Inhib. RNA
Products: | | Browse OriGene RNAi
| |
| | Predesigned siRNA for gene silencing in human, mouse, rat HPE1 |
|
Expression
for HPE1 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™,
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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See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --
HPE1 Protein expression data from MOPED1, PaxDb2 and
MaxQB3:  --
Custom PCR Arrays for HPE1
Primer
Products: | | Browse OriGene qPCR
| | | Search Pre-validated RT2 qPCR
Primer Assays in human, mouse, rat HPE1 | | | QuantiTect SYBR Green Assays in human, mouse, rat HPE1 | | | QuantiFast Probe-based Assays in human, mouse, rat HPE1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPE1 |
Orthologs
for HPE1 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)
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--
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Paralogs
for HPE1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Genomic Variants
for HPE1 gene(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)
About This Section
TryGeneCards Plus | | | Site Specific Mutation Identification with PCR Assays |
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Disorders
/ Diseases
for HPE1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Conferences by KenesGroup,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
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OMIM gene information: 236100
OMIM disorders: --
1  disease for HPE1:
About MalaCardsholoprosencephaly-1
HPE1 for disorders About GeneDecksing
Export disorders for HPE1 gene to outside databases
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Publications
for HPE1 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)
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PubMed article for HPE1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with HPE1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome. (PubMed id 7485157)1, 3 Muenke M....Fan C.M. (Am. J. Hum. Genet. 1995)
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External Searches for HPE1 gene (in PubMed,
OMIM, and NCBI Bookshelf)
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|
Genome Databases showing HPE1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
Other Databases showing HPE1 gene
(According to HUGE)
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Specialized Databases showing HPE1 gene(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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| Name | Description |
| PharmGKB entry for HPE1 | Pharmacogenomics, SNPs, Pathways |
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TryGeneCards Plus | Patent Information for HPE1 gene:
Search GeneIP for patents involving HPE1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for HPE1 gene(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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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|  | Block miRNA regulation of human, mouse, rat HPE1 using miScript Target Protectors | | SeqTarget long-range PCR primers for resequencing HPE1 | | | DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HPE1 | | Predesigned siRNA for gene silencing in human, mouse, rat HPE1 | | | QuantiFast Probe-based Assays in human, mouse, rat HPE1 | | QuantiTect SYBR Green Assays in human, mouse, rat HPE1 | | | Custom PCR Arrays for HPE1 | | Search Chromatin IP Primers for HPE1 | | | Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat HPE1 | | Search GeneGlobe Interaction Network for HPE1 | | | Search Regulatory tfbs for HPE1 |
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| | | Search Tocris compounds for HPE1 |
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 |  | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPE1 |
| |  |  |  |  | | | Search ThermoFisher Antibodies for HPE1 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HPE1 |
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