epas1b endothelial PAS domain protein 1b [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: epas1bprovided by ZNC
Official Full Name: endothelial PAS domain protein 1bprovided by ZNC
Primary source: ZFIN:ZDB-GENE-060607-11
See related: Ensembl:ENSDARG00000057671 AllianceGenome:ZFIN:ZDB-GENE-060607-11
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: epas1; hif-2ab; wu:fq36f01
Summary: Enables transcription cis-regulatory region binding activity. Acts upstream of or within several processes, including digestive system development; embryonic liver development; and hematopoietic stem cell differentiation. Predicted to be located in nucleus. Is expressed in several structures, including cardiovascular system; digestive system; musculature system; nervous system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in familial erythrocytosis 4; lung non-small cell carcinoma; polycythemia; and pulmonary hypertension. Orthologous to human EPAS1 (endothelial PAS domain protein 1). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 13

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	13	NC_007124.7 (8381004..8446341, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	13	NC_007124.6 (8048981..8114318, complement)

Chromosome 13 - NC_007124.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Enhanced Over-Representation Analysis for the Differential Regulation of Birc5a and HIF2alpha-Knockdown Approaches.
Title: Enhanced Over-Representation Analysis for the Differential Regulation of Birc5a and HIF2α-Knockdown Approaches.
Data show that Tet1 modulates HIF-2alpha and HIF-1alpha through different mechanisms.
Title: Tet1 facilitates hypoxia tolerance by stabilizing the HIF-α proteins independent of its methylcytosine dioxygenase activity.
Hypoxic exposure (oxygen partial pressure = 5 kPa) in turn caused a significant increase in the level of Hif-1alpha protein even at 1 days post fertilization and in later stages, while neither Hif-2alpha nor Hif-3alpha protein level were affected.
Title: Developmental Expression and Hypoxic Induction of Hypoxia Inducible Transcription Factors in the Zebrafish.
HIF1 alpha and HIFalpha3 signaling and overall gene expression changes during hypoxia and prolonged exercise differ considerably.
Title: HIF signaling and overall gene expression changes during hypoxia and prolonged exercise differ considerably.
hif2-alpha-leg1 axis in liver development may have resulted from the adaptation of teleosts to their environment
Title: Hypoxia-inducible factor 2 alpha is essential for hepatic outgrowth and functions via the regulation of leg1 transcription in the zebrafish embryo.
HIF-2alpha has a role in persistence of neutrophilic inflammation in humans, mice and zebrafish
Title: Hypoxia-inducible factor 2α regulates key neutrophil functions in humans, mice, and zebrafish.
Zebrafish HIF2alpha protects neural progenitor cells and neural differentiation processes by upregulating the survivin orthologues birc5a and birc5b during embryogenesis.
Title: Integration of CNS survival and differentiation by HIF2α.
Zebrafish hif-1a and hif-2a are both expressed throughout development, in the notochord expression of hif-1a is off, while hif-2a transcription is on, signifying that the two genes might have partially overlapping, non-redundant functions in development.
Title: Cloning of hif-1alpha and hif-2alpha and mRNA expression pattern during development in zebrafish.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Notch signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hypoxia	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic liver development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within exocrine pancreas development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hematopoietic stem cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within hematopoietic stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuronal stem cell population maintenance	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuronal stem cell population maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to activity	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: endothelial PAS domain-containing protein 1b

Names: HIF2A; endothelial PAS domain protein 1; hif-2a; hypoxia inducible factor 2 alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001039806.2 → NP_001034895.2 endothelial PAS domain-containing protein 1b

See identical proteins and their annotated locations for NP_001034895.2

Status: VALIDATED

Source sequence(s)

BX248102

UniProtKB/TrEMBL

A0A8M1N8E3, B3DJD1

Related

ENSDARP00000074832.5, ENSDART00000080382.7

Conserved Domains (6) summary

smart00091
Location:92 → 147

PAS; PAS domain

cd00083
Location:12 → 68

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

cd00130
Location:238 → 337

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam08447
Location:251 → 338

PAS_3; PAS fold

pfam08778
Location:798 → 833

HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain

pfam11413
Location:511 → 543

HIF-1; Hypoxia-inducible factor-1