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HIF3A hypoxia inducible factor 3 alpha subunit [ Homo sapiens (human) ]

Gene ID: 64344, updated on 12-May-2016
Official Symbol
HIF3Aprovided by HGNC
Official Full Name
hypoxia inducible factor 3 alpha subunitprovided by HGNC
Primary source
HGNC:HGNC:15825
See related
Ensembl:ENSG00000124440 HPRD:17104; MIM:609976; Vega:OTTHUMG00000141296
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IPAS; MOP7; PASD7; HIF-3A; bHLHe17; HIF3-alpha-1
Summary
The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]
Orthologs
Location:
19q13.32
Exon count:
18
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (46297046..46343433)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46800303..46846690)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC645553 Neighboring gene IGF like family member 1 Neighboring gene IGF like family member 1 pseudogene 2 Neighboring gene protein phosphatase 5 catalytic subunit Neighboring gene uncharacterized LOC105372426 Neighboring gene coiled-coil domain containing 8

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
NOT cellular response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
Traceable Author Statement
more info
 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
Preferred Names
hypoxia-inducible factor 3-alpha
Names
PAS domain-containing protein 7
basic-helix-loop-helix-PAS protein MOP7
class E basic helix-loop-helix protein 17
hypoxia inducible factor 3, alpha subunit
inhibitory PAS domain protein
member of PAS protein 7

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.

Genomic

  1. NG_029679.1 RefSeqGene

    Range
    4999..51386
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022462.4NP_071907.4  hypoxia-inducible factor 3-alpha isoform b

    See identical proteins and their annotated locations for NP_071907.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 3. The resulting isoform (b) has a distinct and shorter N-terminus, compared to isoform c.
    Source sequence(s)
    AC007193, AK297828, BM971722, DC423791
    Consensus CDS
    CCDS42580.2
    UniProtKB/Swiss-Prot
    Q9Y2N7
    Related
    ENSP00000244303, OTTHUMP00000230128, ENST00000244303, OTTHUMT00000384749
    Conserved Domains (3) summary
    pfam11413
    Location:408441
    HIF-1; Hypoxia-inducible factor-1
    cd00130
    Location:172269
    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 ...
    pfam14598
    Location:172273
    PAS_11; PAS domain
  2. NM_152794.3NP_690007.1  hypoxia-inducible factor 3-alpha isoform a

    See identical proteins and their annotated locations for NP_690007.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR and 5' coding region, compared to variant 3. The resulting isoform (a) has a distinct and shorter N-terminus, compared to isoform c.
    Source sequence(s)
    AB054067, AC007193, AK314680, BM971722
    Consensus CDS
    CCDS12682.1
    UniProtKB/Swiss-Prot
    Q9Y2N7
    UniProtKB/TrEMBL
    B2RBI6
    Related
    ENSP00000300862, OTTHUMP00000180610, ENST00000300862, OTTHUMT00000280559
    Conserved Domains (4) summary
    pfam11413
    Location:475508
    HIF-1; Hypoxia-inducible factor-1
    cd00083
    Location:1166
    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:239336
    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 ...
    pfam14598
    Location:239340
    PAS_11; PAS domain
  3. NM_152795.3NP_690008.2  hypoxia-inducible factor 3-alpha isoform c

    See identical proteins and their annotated locations for NP_690008.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (c).
    Source sequence(s)
    AC007193, BC080551, BM971722, DR001068
    Consensus CDS
    CCDS12681.2
    UniProtKB/Swiss-Prot
    Q9Y2N7
    Related
    ENSP00000366898, OTTHUMP00000180608, ENST00000377670, OTTHUMT00000280556
    Conserved Domains (4) summary
    pfam11413
    Location:477510
    HIF-1; Hypoxia-inducible factor-1
    cd00083
    Location:1368
    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:241338
    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 ...
    pfam14598
    Location:241342
    PAS_11; PAS domain
  4. NM_152796.2NP_690009.1  hypoxia-inducible factor 3-alpha isoform d

    See identical proteins and their annotated locations for NP_690009.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, uses an alternate start codon, and differs in the 3' coding region and 3' UTR, compared to variant 3. The resulting isoform (d) has distinct N- and C-termini, and is shorter than isoform c.
    Source sequence(s)
    AC007193, AU143858, BE250295, CA437428, CF593418, DA559979, DC423791
    UniProtKB/TrEMBL
    H0YDZ5
    Related
    ENSP00000434653, OTTHUMP00000230131, ENST00000472815, OTTHUMT00000280557
    Conserved Domains (3) summary
    cd00130
    Location:172269
    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 ...
    pfam13900
    Location:429450
    GVQW; Putative binding domain
    pfam14598
    Location:172273
    PAS_11; PAS domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    46297046..46343433
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723325.1XP_006723388.1  

    See identical proteins and their annotated locations for XP_006723388.1

    UniProtKB/Swiss-Prot
    Q9Y2N7
    Conserved Domains (3) summary
    pfam11413
    Location:408441
    HIF-1; Hypoxia-inducible factor-1
    cd00130
    Location:172269
    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 ...
    pfam14598
    Location:172273
    PAS_11; PAS domain
  2. XM_005259152.3XP_005259209.1  

    Conserved Domains (4) summary
    pfam11413
    Location:521554
    HIF-1; Hypoxia-inducible factor-1
    cd00083
    Location:57112
    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:285382
    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 ...
    pfam14598
    Location:285386
    PAS_11; PAS domain
  3. XM_005259155.3XP_005259212.1  

    See identical proteins and their annotated locations for XP_005259212.1

    Conserved Domains (3) summary
    cd00083
    Location:57112
    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:285382
    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 ...
    pfam14598
    Location:285386
    PAS_11; PAS domain
  4. XM_005259156.3XP_005259213.1  

    See identical proteins and their annotated locations for XP_005259213.1

    Conserved Domains (3) summary
    cd00083
    Location:57112
    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:285382
    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 ...
    pfam14598
    Location:285386
    PAS_11; PAS domain
  5. XM_005259154.3XP_005259211.1  

    See identical proteins and their annotated locations for XP_005259211.1

    UniProtKB/Swiss-Prot
    Q9Y2N7
    Conserved Domains (3) summary
    pfam11413
    Location:408441
    HIF-1; Hypoxia-inducible factor-1
    cd00130
    Location:172269
    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 ...
    pfam14598
    Location:172273
    PAS_11; PAS domain
  6. XM_005259153.2XP_005259210.2  

    UniProtKB/TrEMBL
    M0R104
    Related
    ENSP00000471560, OTTHUMP00000269452, ENST00000600383, OTTHUMT00000461728
    Conserved Domains (4) summary
    pfam11413
    Location:408441
    HIF-1; Hypoxia-inducible factor-1
    cd00130
    Location:172269
    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 ...
    pfam13900
    Location:573594
    GVQW; Putative binding domain
    pfam14598
    Location:172273
    PAS_11; PAS domain

RNA

  1. XR_935849.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    46802171..46848539
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)