Egln1 (egl-9 family hypoxia inducible factor 1)

Gene: Egln1 (egl-9 family hypoxia inducible factor 1) Chinchilla lanigera

Analyze

Symbol:

Egln1

Name:

egl-9 family hypoxia inducible factor 1

RGD ID:

9003787

Description:

ENCODES a protein that exhibits 2-oxoglutarate-dependent dioxygenase activity (ortholog); enzyme binding (ortholog); ferrous iron binding (ortholog); INVOLVED IN cardiac muscle tissue morphogenesis (ortholog); heart trabecula formation (ortholog); intracellular iron ion homeostasis (ortholog); PARTICIPATES IN hypoxia inducible factor pathway; vascular endothelial growth factor signaling pathway; ASSOCIATED WITH Actin-Accumulation Myopathy (ortholog); acute kidney failure (ortholog); atherosclerosis (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); glutamatergic synapse (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

egl nine homolog 1; egl-9 family hypoxia-inducible factor 1

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

ChiLan1.0 - Chinchilla ChiLan1.0 Assembly

NCBI Annotation Information:

Annotation category: partial on reference assembly

Position:

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955492	7,407,800 - 7,454,842 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955492	7,407,800 - 7,454,851 (+)	NCBI	ChiLan1.0	ChiLan1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Actin-Accumulation Myopathy (ISO)

acute kidney failure (ISO)

atherosclerosis (ISO)

dilated cardiomyopathy (ISO)

familial erythrocytosis 3 (ISO)

gastrointestinal stromal tumor (ISO)

genetic disease (ISO)

Hereditary Neoplastic Syndromes (ISO)

Hyperemia (ISO)

hypertension (ISO)

Kidney Reperfusion Injury (ISO)

myocardial infarction (ISO)

Myocardial Reperfusion Injury (ISO)

parathyroid carcinoma (ISO)

polycythemia (ISO)

primary polycythemia (ISO)

Pulmonary Hypertension, Hypoxia-Induced (ISO)

renal cell carcinoma (ISO)

toxic encephalopathy (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cardiac muscle tissue morphogenesis (ISO)

heart trabecula formation (ISO)

intracellular iron ion homeostasis (ISO)

intracellular oxygen homeostasis (ISO)

labyrinthine layer development (ISO)

negative regulation of CAMKK-AMPK signaling cascade (ISO)

negative regulation of cyclic-nucleotide phosphodiesterase activity (ISO)

negative regulation of DNA-binding transcription factor activity (ISO)

positive regulation of apoptotic process (ISO)

positive regulation of neuron apoptotic process (ISO)

positive regulation of transcription by RNA polymerase II (ISO)

regulation of angiogenesis (ISO)

regulation of modification of postsynaptic structure (ISO)

regulation protein catabolic process at postsynapse (ISO)

response to hypoxia (ISO)

response to nitric oxide (ISO)

ventricular septum morphogenesis (ISO)

Cellular Component

cytoplasm (ISO)

cytosol (ISO)

glutamatergic synapse (ISO)

intracellular membrane-bounded organelle (ISO)

postsynaptic density (ISO)

Molecular Function

2-oxoglutarate-dependent dioxygenase activity (ISO)

enzyme binding (ISO)

ferrous iron binding (ISO)

hypoxia-inducible factor-proline dioxygenase activity (ISO)

peptidyl-proline dioxygenase activity (ISO)

protein binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

hypoxia inducible factor pathway (ISO)

vascular endothelial growth factor signaling pathway (ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	Transitive Annotation Pipeline	Automated assignment of GO, PW and RDO ISO annotations across species
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

Egln1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955492	7,407,800 - 7,454,842 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955492	7,407,800 - 7,454,851 (+)	NCBI	ChiLan1.0	ChiLan1.0

EGLN1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	231,363,756 - 231,422,287 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	231,363,751 - 231,422,287 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	231,499,502 - 231,558,033 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	229,568,054 - 229,627,413 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	227,808,165 - 227,867,525	NCBI
Celera	1	204,764,347 - 204,825,640 (-)	NCBI		Celera
Cytogenetic Map	1	q42.2	NCBI
HuRef	1	201,982,787 - 202,043,989 (-)	NCBI		HuRef
CHM1_1	1	232,773,121 - 232,834,670 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	230,746,985 - 230,805,510 (-)	NCBI		T2T-CHM13v2.0

Egln1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	125,635,325 - 125,676,063 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	125,635,326 - 125,676,063 (-)	Ensembl		GRCm39 Ensembl
GRCm38	8	124,908,587 - 124,949,254 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	124,908,587 - 124,949,324 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	127,432,487 - 127,473,154 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	127,794,676 - 127,801,870 (-)	NCBI		MGSCv36	mm8
Celera	8	129,217,254 - 129,257,497 (-)	NCBI		Celera
Cytogenetic Map	8	E2	NCBI
cM Map	8	72.86	NCBI

Egln1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	19	69,765,276 - 69,804,681 (-)	NCBI		GRCr8
mRatBN7.2	19	52,867,900 - 52,907,308 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	19	52,869,486 - 52,907,777 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	19	59,652,672 - 59,692,162 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	19	60,503,724 - 60,543,214 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	19	62,579,139 - 62,618,629 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	19	57,660,194 - 57,701,158 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	19	57,662,278 - 57,699,113 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	19	68,373,433 - 68,412,983 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	19	55,080,670 - 55,118,226 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	19	55,086,125 - 55,122,813 (-)	NCBI
Celera	19	52,235,066 - 52,273,829 (-)	NCBI		Celera
Cytogenetic Map	19	q12	NCBI

EGLN1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	17,780,268 - 17,840,390 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	17,977,718 - 18,036,073 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	206,915,541 - 206,976,656 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	211,939,543 - 211,997,325 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

EGLN1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	4	8,053,486 - 8,110,791 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	4	8,053,837 - 8,109,325 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	4	8,045,638 - 8,103,130 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	4	8,078,966 - 8,136,243 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	4	8,078,996 - 8,136,236 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	4	8,082,361 - 8,139,616 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	4	8,204,144 - 8,261,586 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	4	8,432,143 - 8,489,997 (+)	NCBI		UU_Cfam_GSD_1.0

Egln1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409344	43,178,544 - 43,220,861 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936484	19,343,770 - 19,386,087 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

EGLN1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	59,113,844 - 59,168,395 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	59,113,527 - 59,168,421 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	63,786,901 - 63,840,214 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

EGLN1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	25	68,624,754 - 68,685,961 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	25	68,625,260 - 68,682,804 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666055	70,533,202 - 70,596,876 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Egln1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624775	18,325,135 - 18,369,504 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005404970	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AGCD01060797	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AGCD01060798	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBCB01005053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBCQ01067610	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSCLAT00000007236 ⟹ ENSCLAP00000007124

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955492	7,407,800 - 7,454,842 (+)	Ensembl

RefSeq Acc Id:

XM_005404970 ⟹ XP_005405027

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955492	7,407,800 - 7,454,851 (+)	NCBI

Sequence:

show sequence

GCGAGTGGCGCCGGCCCGCGCCCTGCCCCCGTGCGCCCTGCCCGCCGTGCGCGCTGCCGGAGCC
CGGGCGGCGGCCAGCCGGGTCCCGCGGGCCGCGATGCGGCGCTGAGGGCCTGCGGAGCGCGCTG
CCCGGCATGACGCGCTGACGGCCCCTCTGCCGCCCGGGGCCGGGCGCCCGGCCTGCTCCGCCAT
GGCGAGTGACAGCGGCGGGCTCAGCGGGCCGAGCGCCAGCGAGCGCGAGCGCCAGTACTGCGAG
CTGTGCGGGAAGATGGAGAACCTGCTGCGCTGCGGCCGCTGCCGGAGCTCCTTCTACTGCTCCA
AGGAGCACCAGCGCCGGGACTGGAAGAAGCACAAGCTCGTGTGCCAGAGCGGCGAGGCCGGGCC
CAAAGGGGTTCCCGGGGCGGGGGGAGCGGCCCGGACAACGGCCGAGGCGCCCCCGGCACGGCAC
TCGCCGCGCCCCGAGCGCACCCTGCTGAGCTCCGGGGAGGCGCTGAGCCCTGGTGGCGGAGCCG
GGCGACCGCGGCCCAACGGGCAGACGAAGCCGCTGCCCGCTCTGAAGCTGGCGCTGGAGTACAT
CGTGCCGTGCATGAACAAGCACGGCATCTGCGTGGTGGACGATTTCCTGGGCCGCGAGACGGGG
CAGCAGATCGGCGACGAGGTGCGCGCGCTGCACGACACCGGCAAGTTCACGGACGGGCAGCTGG
TCAGCCAGAAGAGCGACTCGTCCAAGGACATCCGAGGCGACCAGATCACCTGGGTGGAGGGCAA
GGAGCCCGGCTGCGAAACCATCGGGCTGCTTATGAGCAACATGGACGACCTCATCCGCCACTGC
AATGGGAAGCTGGGCAGCTACAAGATCAACGGGCGCACGAAGGCCATGGTTGCTTGTTACCCAG
GCAATGGAACAGGCTATGTTCGTCACGTGGATAATCCAAATGAAGATGGAAGATGTGTGACATG
TATATATTATCTAAATAAAGACTGGGATGCCAAGGTAAGTGGAGGTATACTTCGAATATTTCCA
GAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTG
ACCGTCGCAACCCTCATGAAGTACAACCAGCATATGCCACAAGGTACGCAATAACTGTTTGGTA
TTTTGATGCAGATGAGCGAGCACGAGCTAAAGTAAAATATCTAACAGGTGAGAAAGGCGTGAGG
GTGGAACTCAACAAGCCTTCAGATTCAGTCAGTAAGGACGCCTAGCGTGGCTCGTGGCCCAGCA
GCACTCCTCACTGAACTCTGGGCGCTGCCTGATGGCACGTGACATGAAGGACCGGGGCACGGCG
GCAGCGGAGGGGGCTGGCCAGCGCTCCGCCAGGAGCAGGAGCGGCTTCCCACGTCTCACCGAGC
AGAAGGCCGCCGCACGGCCAGCTGCGAGCTGGGATTGCTGACAGGAAGAGGAGACGCTATCGAA
AGAAAATGGCTGTTCTATCTGGACCTGAAATAAGTGCCCTACATAGAACTTTTCATTCTTATAT
TTTGCCAGATCTGTCATCTAGCTGAGTTCATTTCATGTCTTTTTTATATCAAATTTGAATTTGG
GGTAATTTTTGTATGATTAGGTACAATTTATCAAAACTGAATTGAGAAAAAAATTACAGTATTA
TTCCTCAAAATAACATCAATCTATTTTTGTAAACTTCGTACTATTAAATTTTGCCCTAAAAGAC
CTCTTACAATGATTGTTGCCAGTGACTGATGACTAATTTTCTTTTGACTTAAAGGAAAGGAGCA
CTTTAAGAACCAACTGAAAACCCAGATTGTTTTGTCGTCCTGTCTTACACTAATTGAACTCTTT
AAAGATTGCTGCTGTCATTTTTTGACATTGTTAATAATGAAACCTAATAGTAAAACAGTCACCA
TTGATTGCTGAGTAAAATGTTTTACAAGAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	XP_005405027	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCLAP00000007124
	ENSCLAP00000007124.1

RefSeq Acc Id:

XP_005405027 ⟸ XM_005404970

- UniProtKB:

A0A8C2UX86 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MASDSGGLSGPSASERERQYCELCGKMENLLRCGRCRSSFYCSKEHQRRDWKKHKLVCQSGEAG
PKGVPGAGGAARTTAEAPPARHSPRPERTLLSSGEALSPGGGAGRPRPNGQTKPLPALKLALEY
IVPCMNKHGICVVDDFLGRETGQQIGDEVRALHDTGKFTDGQLVSQKSDSSKDIRGDQITWVEG
KEPGCETIGLLMSNMDDLIRHCNGKLGSYKINGRTKAMVACYPGNGTGYVRHVDNPNEDGRCVT
CIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVW
YFDADERARAKVKYLTGEKGVRVELNKPSDSVSKDA

hide sequence

RefSeq Acc Id:

ENSCLAP00000007124 ⟸ ENSCLAT00000007236

Protein Domains

Fe2OG dioxygenase MYND-type

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCLAG00000005012	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCLAT00000007236	ENTREZGENE
	ENSCLAT00000007236.1	UniProtKB/TrEMBL
Gene3D-CATH	6.10.140.2220	UniProtKB/TrEMBL
	q2cbj1_9rhob like domain	UniProtKB/TrEMBL
InterPro	Oxoglu/Fe-dep_dioxygenase	UniProtKB/TrEMBL
	Pro_4_hyd_alph	UniProtKB/TrEMBL
	Pro_4_hyd_alph_FE2OG_OXY	UniProtKB/TrEMBL
	Znf_MYND	UniProtKB/TrEMBL
NCBI Gene	Egln1	ENTREZGENE
PANTHER	EGL NINE HOMOLOG 1	UniProtKB/TrEMBL
	EGL NINE HOMOLOG-RELATED	UniProtKB/TrEMBL
Pfam	2OG-FeII_Oxy_3	UniProtKB/TrEMBL
	zf-MYND	UniProtKB/TrEMBL
PROSITE	FE2OG_OXY	UniProtKB/TrEMBL
	ZF_MYND_1	UniProtKB/TrEMBL
	ZF_MYND_2	UniProtKB/TrEMBL
SMART	P4Hc	UniProtKB/TrEMBL
Superfamily-SCOP	HIT/MYND zinc finger-like	UniProtKB/TrEMBL
UniProt	A0A8C2UX86	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-08-03	Egln1	egl-9 family hypoxia inducible factor 1		egl-9 family hypoxia-inducible factor 1	Symbol and/or name change	5135510	APPROVED
2015-08-25	Egln1	egl-9 family hypoxia-inducible factor 1		egl nine homolog 1 (C. elegans)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - PID (archival)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - PID (archival)