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epas1a endothelial PAS domain protein 1a [ Danio rerio (zebrafish) ]

Gene ID: 566886, updated on 18-Sep-2024

Summary

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Official Symbol
epas1aprovided by ZNC
Official Full Name
endothelial PAS domain protein 1aprovided by ZNC
Primary source
ZFIN:ZDB-GENE-030131-4490
See related
Ensembl:ENSDARG00000008697 AllianceGenome:ZFIN:ZDB-GENE-030131-4490
Gene type
protein coding
RefSeq status
MODEL
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
hif-2aa; wu:fd10h02
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Acts upstream of or within Notch signaling pathway and hematopoietic stem cell differentiation. Predicted to be located in cytoplasm and nucleus. Predicted to be part of transcription regulator complex. Is expressed in several structures, including digestive system; gill; head; heart; 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
all
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Genomic context

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See epas1a in Genome Data Viewer
Location:
chromosome: 12
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 12 NC_007123.7 (25775823..25826151)
105 previous assembly GRCz10 (GCF_000002035.5) 12 NC_007123.6 (25684402..25735685)

Chromosome 12 - NC_007123.7Genomic Context describing neighboring genes Neighboring gene SIX homeobox 2b Neighboring gene protein kinase C, epsilon a Neighboring gene si:dkey-193p11.2 Neighboring gene glutamate dehydrogenase 1b

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. De Novo Germline and Somatic Variants Convergently Promote Endothelial-to-Mesenchymal Transition in Simplex Brain Arteriovenous Malformation. Li H, et al. Circ Res, 2021 Oct 15. PMID 34530633
  2. Analysis of hypoxia-inducible factor alpha polyploidization reveals adaptation to Tibetan Plateau in the evolution of schizothoracine fish. Guan L, et al. BMC Evol Biol, 2014 Aug 28. PMID 25205386, Free PMC Article
  3. Transcriptional divergence of the duplicated hypoxia-inducible factor alpha genes in zebrafish. Rytkönen KT, et al. Gene, 2014 May 10. PMID 24613281
  4. Subfunctionalization of cyprinid hypoxia-inducible factors for roles in development and oxygen sensing. Rytkönen KT, et al. Evolution, 2013 Mar. PMID 23461336
  5. Hypoxia-inducible factor 2α regulates key neutrophil functions in humans, mice, and zebrafish. Thompson AA, et al. Blood, 2014 Jan 16. PMID 24196071, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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Markers

Homology

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
  
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
  
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 hematopoietic stem cell differentiation IC
Inferred by Curator
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 regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
endothelial PAS domain-containing protein 1
Names
HIF2B

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007123.7 Reference GRCz11 Primary Assembly

    Range
    25775823..25826151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_690170.10 → XP_695262.6  endothelial PAS domain-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A8N7UR89
    Conserved Domains (6) summary
    smart00091
    Location:86 → 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:240 → 339
    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:253 → 340
    PAS_3; PAS fold
    pfam08778
    Location:806 → 842
    HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
    pfam11413
    Location:522 → 554
    HIF-1; Hypoxia-inducible factor-1

  2. XM_005156297.5 → XP_005156354.1  endothelial PAS domain-containing protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A8M2B2M0, E7FAJ1
    Related
    ENSDARP00000021260.9, ENSDART00000024415.9
    Conserved Domains (6) summary
    smart00091
    Location:86 → 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:240 → 339
    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:253 → 340
    PAS_3; PAS fold
    pfam08778
    Location:805 → 841
    HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
    pfam11413
    Location:522 → 554
    HIF-1; Hypoxia-inducible factor-1

  3. XM_009306741.4 → XP_009305016.1  endothelial PAS domain-containing protein 1 isoform X3

    UniProtKB/TrEMBL
    A0A8M3B7J1, F8W2W5
    Related
    ENSDARP00000124584.1, ENSDART00000149198.2
    Conserved Domains (6) summary
    smart00091
    Location:86 → 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:240 → 339
    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:253 → 340
    PAS_3; PAS fold
    pfam08778
    Location:773 → 809
    HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
    pfam11413
    Location:522 → 554
    HIF-1; Hypoxia-inducible factor-1

  4. XM_068224778.1 → XP_068080879.1  endothelial PAS domain-containing protein 1 isoform X4

Nucleotide Protein
Heading Accession and Version

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