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

Gene ID: 555192, updated on 27-Mar-2024

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, Apr 2022]
Orthologs
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Genomic context

Location:
chromosome: 13
Exon count:
16
Annotation release Status Assembly Chr Location
106 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_007124.7Genomic Context describing neighboring genes Neighboring gene atlastin GTPase 2 Neighboring gene galactose mutarotase Neighboring gene DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 Neighboring gene protein kinase C, epsilon b Neighboring gene suppressor of cytokine signaling 5b

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

General gene information

Gene Ontology Provided by ZFIN

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

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)

  1. NM_001039806.2NP_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:92147
    PAS; PAS domain
    cd00083
    Location:1268
    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:238337
    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:251338
    PAS_3; PAS fold
    pfam08778
    Location:798833
    HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
    pfam11413
    Location:511543
    HIF-1; Hypoxia-inducible factor-1

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007124.7 Reference GRCz11 Primary Assembly

    Range
    8381004..8446341 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCz11 ALT_DRER_TU_1

Genomic

  1. NW_018394864.1 Reference GRCz11 ALT_DRER_TU_1

    Range
    41650..106987 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCz11 ALT_DRER_TU_2

Genomic

  1. NW_018395305.1 Reference GRCz11 ALT_DRER_TU_2

    Range
    231857..297332 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)