EGLN1 Gene
protein-coding GIFtS: 64
GCID: GC01M231499
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|
egl nine homolog 1 (C. elegans)(Previous name: EGL nine (C.elegans) homolog 1 )
(Previous symbol: C1orf12)
| |
Aliases
for EGLN1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Egl Nine Homolog 1 (C. Elegans)1 2 | | ECYT32 5 | | C1orf121 2 3 5 | | SM202 5 | | PHD21 2 3 5 | | EGL Nine (C.Elegans) Homolog 11 | | HIFPH21 2 5 | | HPH22 | | ZMYND61 2 5 | | Egl Nine Homolog 12 | | SM-201 3 | | Egl Nine-Like Protein 12 | | Hypoxia-Inducible Factor Prolyl Hydroxylase 22 3 | | HIF Prolyl Hydroxylase 22 | | Prolyl Hydroxylase Domain-Containing Protein 22 3 | | Zinc Finger MYND Domain-Containing Protein 62 | | HIF-PH22 3 | | EC 1.14.11.293 | | HPH-22 3 | | EC 1.14.118 | | HIF-Prolyl Hydroxylase 22 3 | | |
Export aliases for EGLN1 gene to outside databasesPrevious GC identifers: GC01M229945 GC01M227239 GC01M227972 GC01M228536 GC01M228534 GC01M227806 GC01M229566 GC01M201982 |
Summaries
for EGLN1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for EGLN1:
The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-induciblefactor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygenhomeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modificationby prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the vonHippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3(ECYT3). (provided by RefSeq, Nov 2009)
UniProtKB/Swiss-Prot: EGLN1_HUMAN, Q9GZT9Function: Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each ofthe oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylatesHIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then targeted forproteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylationreaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus,heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN1 is the most important isozymeunder normoxia and, through regulating the stability of HIF1, involved in various hypoxia-influenced processes such asangiogenesis in retinal and cardiac functionality
Gene Wiki entry for EGLN1
|
Genomic Views
for EGLN1 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_000001.10 NC_018912.1 NT_167186.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the EGLN1 gene promoter:
AhR MAZR AP-1 NRSF form 1 ATF-2 Nkx5-1 NRSF form 2 Arnt COMP1 c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for EGLN1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EGLN1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q42.1 Ensembl cytogenetic band: 1q42.2 HGNC cytogenetic band: 1q42.1EGLN1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M231499: view genomic region
(about GC identifiers)
Start:
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231,499,497 bp from pter |
End:
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231,560,790 bp from pter |
Size:
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61,294 bases |
Orientation:
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minus strand |
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Proteins
for EGLN1 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: EGLN1_HUMAN, Q9GZT9 (See
protein sequence)Recommended Name: Egl nine homolog 1 Size: 426 amino acids; 46021 Da
Cofactor: Binds 1 Fe(2+) ion per subunit
Cofactor: Ascorbate
Subunit: Monomer. Interacts with ING4; the interaction inhibits the hydroxylation of HIFs. Interacts with LIMD1. Foundin a complex composed of LIMD1, VHL, EGLN1/PHD2, TCEB2 AND CUL2. Interacts with EPAS1
Subcellular location: Cytoplasm. Nucleus. Note=Mainly cytoplasmic. Shuttles between the nucleus and cytoplasm. Nuclearexport requires functional XPO1
Caution: It was previously reported that this protein was the ortholog of rat SM-20. However, EGLN3 is now consideredthe true ortholog of rat SM-20 since it shows substantially greater similarity
Sequence caution: Sequence=AAK07534.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=AAK07536.1; Type=Frameshift; Positions=239;
6/11 PDB 3D structures from  and Proteopedia  for EGLN1 (see all 11):2G19 (3D)
2G1M (3D)
2HBT (3D)
2HBU (3D)
2Y33 (3D)
2Y34 (3D)
Secondary accessions: Q8N3M8 Q9BZS8 Q9BZT0Alternative splicing: 3 isoforms: Q9GZT9-1 Q9GZT9-2 Q9GZT9-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for EGLN1: NX_Q9GZT9
Post-translational modifications:
S-nitrosylation inhibits the enzyme activity up to 60% under aerobic conditions. Chelation of Fe(2+) has no effect onthe S-nitrosylation. It is uncertain whether nitrosylation occurs on Cys-323 or Cys-3261
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9GZT9
4/5 DME Specific Peptides for EGLN1 (Q9GZT9) (see all 5)
EGLN1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_071334.1
ENSEMBL proteins: ENSP00000355601 Reactome Protein details: Q9GZT9
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
EGLN1 for ontologies About GeneDecksing
EGLN1 Antibody Products:
Assay Products for EGLN1: |
Protein
Domains /
Families
for EGLN1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
EGLN1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9GZT9ProtoNet protein and cluster: Q9GZT9 1 Blocks protein family: IPB002893 Zn-finger
UniProtKB/Swiss-Prot: EGLN1_HUMAN, Q9GZT9Domain: The beta(2)beta(3) 'finger-like' loop domain is important for substrate (HIFs' CODD/NODD) selectivitySimilarity: Contains 1 Fe2OG dioxygenase domainSimilarity: Contains 1 MYND-type zinc finger |
Function
for EGLN1 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: EGLN1_HUMAN, Q9GZT9Function: Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each ofthe oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylatesHIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then targeted forproteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylationreaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus,heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN1 is the most important isozymeunder normoxia and, through regulating the stability of HIF1, involved in various hypoxia-influenced processes such asangiogenesis in retinal and cardiac functionalityCatalytic activity: Hypoxia-inducible factor-L-proline + 2-oxoglutarate + O(2) = hypoxia-induciblefactor-trans-4-hydroxy-L-proline + succinate + CO(2)Enzyme regulation: Following exposure to hypoxia, activated in HeLa cells but not in cardiovascular cellsEnzyme Numbers (IUBMB): EC 1.14.112 EC 1.14.11.291
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 EGLN1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EGLN1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: EGLN1 (NM_022051) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for EGLN1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EGLN1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGLN1 |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005506 | iron ion binding |
IEA | -- | | GO:0005515 | protein binding |
IPI | 15721254 | | GO:0008270 | zinc ion binding |
IEA | -- | | GO:0016702 | oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen |
IEA | -- | | GO:0031418 | L-ascorbic acid binding |
IEA | -- |
EGLN1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for EGLN1:
Animal Models:
Mouse knock-outs for EGLN1: Egln1tm1Fong Egln1tm1.2Brei Egln1tm1Pec Egln1tm1.1Kael
13 MGI mutant phenotypes (inferred from 8 alleles ) (MGI details for Egln1):
EGLN1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for EGLN1 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 - 5/8 super-pathways (see all 8) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha | | | 2 | Angiogenesis | | | 3 | HIF1Alpha Pathway | | | 4 | HIF-1-alpha transcription factor network | | | 5 | HIF-2-alpha transcription factor network | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for EGLN1
2 
Cell Signaling Technology (CST) Pathways for EGLN1
2  BioSystems Pathways for EGLN1
4 
Reactome Pathways for EGLN1
2 
Kegg Pathways (Kegg details for EGLN1):
EGLN1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EGLN1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/42 Interacting proteins for EGLN1 (Q9GZT91, 2, 3 ENSP000003556014) via UniProtKB, MINT, STRING, and/or I2D (see all 42)About this table
Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table
EGLN1 for ontologies About GeneDecksing
|
Drugs & Compounds
for EGLN1 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
|
EGLN1 for compounds About GeneDecksing
 Compounds for EGLN1 available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| IOX 2 | Potent, selective HIF1a prolyl hydroxylase-2 (PHD2) inhibitor | [931398-72-0] |
3 HMDB Compounds for EGLN1 About this table
3 DrugBank Compounds for EGLN1 About this table
9 Novoseek chemical compound relationships for EGLN1 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| alpha-ketoglutarate |
78 |
9 |
16880998 (2), 17135241 (1), 19028544 (1), 16565084 (1) (see all 5) |
| proline |
61.7 |
11 |
18426857 (2), 12670503 (1), 18640395 (1), 17925579 (1) (see all 6) |
| oxygen |
53.8 |
23 |
16952279 (2), 16185289 (2), 18927305 (2), 20028863 (1) (see all 14) |
| asparagine |
47.3 |
2 |
18426857 (2) |
| vegf |
37.2 |
7 |
16278385 (2), 18500250 (1), 17189520 (1), 16815840 (1) (see all 6) |
| succinate |
28 |
1 |
17135241 (2), 19587783 (1) |
| pyruvate |
4.18 |
2 |
17135241 (1), 14984367 (1) |
| zinc |
0 |
4 |
16155211 (2), 16893883 (1) |
| estrogen |
0 |
1 |
11850811 (1) |
Search CenterWatch for drugs/clinical trials and news about EGLN1
|
Transcripts
for EGLN1 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 EGLN1 gene: NM_022051.2 Unigene Cluster for EGLN1: Egl nine homolog 1 (C. elegans) Hs.444450 [show with all ESTs]Unigene Representative Sequence: NM_0220512 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000366641(uc001huu.3 uc001huv.2) ENST00000476717
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EGLN1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EGLN1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: EGLN1 (NM_022051) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for EGLN1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EGLN1 |
Additional cDNA sequence: AF229245.1 AF277174.1 AF277176.1 AF334711.1 AJ227859.1 AJ310543.1 AL833885.1 BC005369.1 DQ975380.1 11 DOTS entries: DT.100650259 DT.446845 DT.100834642 DT.95254354 DT.97825344 DT.121385087 DT.40128523 DT.100708715 DT.91770664 DT.95075775 DT.92363942 24/265 AceView cDNA sequences (see all 265): AA134844 AI420330 BF940422 AW302201 CA416657 BM128168 AW292115 BP346238 AA969289 AI889182 CR604521 BG110856 AA846715 AW302548 AL602378 BF435111 BQ959211 AI394635 AA385806 AF229245 AI927363 AA349461 AA465370 CA397965
GeneLoc Exon Structure
|
Expression
for EGLN1 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
| EGLN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAATTTGAAA
About this image
See EGLN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EGLN1
SOURCE GeneReport for Unigene cluster: Hs.444450
UniProtKB/Swiss-Prot: EGLN1_HUMAN, Q9GZT9Tissue specificity: According to PubMed:11056053, widely expressed with highest levels in skeletal muscle and heart,moderate levels in pancreas, brain (dopaminergic neurons of adult and fetal substantia nigra) and kidney, and lowerlevels in lung and liver. According to PubMed:12351678 widely expressed with highest levels in brain, kidney andadrenal gland. Expressed in cardiac myocytes, aortic endothelial cells and coronary artery smooth muscle. According toPubMed:12788921; expressed in adult and fetal heart, brain, liver, lung, skeletal muscle and kidney. Also expressed inplacenta. Highest levels in adult heart, brain, lung and liver and fetal brain, heart spleen and skeletal muscle
SABiosciences Expression via Pathway-Focused PCR Arrays including EGLN1: | Parkinson's Disease in human mouse rat | | Hypoxia Signaling Pathway in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EGLN1
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGLN1 |
Orthologs
for EGLN1 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 animals.
Orthologs for EGLN1 gene from 6/24 species (see all 24) About this table
ENSEMBL Gene Tree for EGLN1 (if available)
TreeFam Gene Tree for EGLN1 (if available) |
Paralogs
for EGLN1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for EGLN1 gene
- EGLN32 RAB4B-EGLN22
2 SIMAP similar genes for EGLN1 using alignment to 3 protein entries: EGLN1_HUMAN (see all proteins):EGLN3 EGLN2
EGLN1 for paralogs About GeneDecksing
|
Genomic Variants
for EGLN1 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 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for EGLN1 (231499497 - 231560790 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for EGLN1
1 CNV: 38173
Human Gene Mutation Database (HGMD): EGLN1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EGLN1 |
|
Disorders
/ Diseases
for EGLN1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
EGLN1 for disorders About GeneDecksing
OMIM gene information: 606425
OMIM disorders: 609820
UniProtKB/Swiss-Prot: EGLN1_HUMAN, Q9GZT9
Defects in EGLN1 are the cause of familial erythrocytosis type 3 (ECYT3) [MIM:609820]. ECYT3 is an autosomaldominant disorder characterized by increased serum red blood cell mass, elevated serum hemoglobin and hematocrit, andnormal serum erythropoietin levels
20/30  diseases for EGLN1 (see all 30): About MalaCardserythrocytosis hypoxia renal clear cell carcinoma pancreatic endocrine tumors
primary polycythemia polycythemia renal cell carcinoma squamous cell carcinoma
paraganglioma osteosarcoma endometrial carcinoma hepatitis b
parkinson's disease carcinoma endometrial cancer renal carcinoma
hepatocellular carcinoma pancreatitis colon cancer pancreatic cancer
3 Novoseek disease relationships for EGLN1 gene About this table
Human Genome Epidemiology (HuGE) Navigator: EGLN1 (4 documents)
Export disorders for EGLN1 gene to outside databases
|
Publications
for EGLN1 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 EGLN1 gene, integrated from 9 sources (see all 166):
(articles sorted by number of sources associating them with EGLN1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mapping, characterization, and expression analysis of the SM-20 human homologue, C1orf12, and identification of a novel related gene, SCAND2. (PubMed id 11056053)1, 2, 3, 9 Dupuy D.... Arveiler B. (2000)
- Role of the intracellular localization of HIF-prolyl hydroxylases. (PubMed id 19339211)1, 2, 9 Yasumoto K....Sogawa K. (2009)
- Cellular oxygen sensing: Importins and exportins are mediators of intracellular localisation of prolyl-4-hydroxylases PHD1 and PHD2. (PubMed id 19631610)1, 2, 9 Steinhoff A....Depping R. (2009)
- Cellular oxygen sensing: crystal structure of hypoxia-inducible factor prolyl hydroxylase (PHD2). (PubMed id 16782814)1, 2, 9 McDonough M.A.... Schofield C.J. (2006)
- Characterization and comparative analysis of the EGLN gene family. (PubMed id 11574160)1, 2, 9 Taylor M.S. (2001)
- Differential function of the prolyl hydroxylases PHD1, PHD2, and PHD3 in the regulation of hypoxia-inducible factor. (PubMed id 15247232)1, 2, 9 Appelhoff R.J....Gleadle J.M. (2004)
- Intracellular localisation of human HIF-1 alpha hydroxylases: implications for oxygen sensing. (PubMed id 12615973)1, 2, 9 Metzen E....Fandrey J. (2003)
- Differential regulation of HIF-1alpha prolyl-4-hydroxylase genes by hypoxia in human cardiovascular cells. (PubMed id 12670503)1, 2, 9 Cioffi C.L.... Bowen B.R. (2003)
- The LIMD1 protein bridges an association between the prolyl hydroxylases and VHL to repress HIF-1 activity. (PubMed id 22286099)1, 2 Foxler D.E.... Sharp T.V. (2012)
- Studies on the reaction of nitric oxide with the hypoxia-inducible factor prolyl hydroxylase domain 2 (EGLN1). (PubMed id 21601578)1, 2 Chowdhury R....Schofield C.J. (2011)
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External Searches for EGLN1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing EGLN1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing EGLN1 gene
(According to HUGE)
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Specialized Databases showing EGLN1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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About This Section
| Patent Information for EGLN1 gene:
Search GeneIP for patents involving EGLN1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for EGLN1 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
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| | |  | OriGene Antibodies for EGLN1 | | OriGene shRNA RFP for EGLN1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EGLN1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EGLN1 | | | OriGene Protein Over-expression Lysate for EGLN1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for EGLN1 | | OriGene 3'-UTR Clone for EGLN1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EGLN1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EGLN1 | | | 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 | | | OriGene Purified Protein for EGLN1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for EGLN1 | | OriGene Custom Protein Services for EGLN1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat EGLN1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EGLN1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EGLN1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EGLN1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EGLN1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EGLN1 |
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| | Antibodies & Assays for EGLN1 |
| | | | Tocris compounds for EGLN1 |
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 | | | EGLN1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGLN1 |
|  |  |  | | | | ThermoFisher Antibody for EGLN1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EGLN1 |
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