HIF3A - hypoxia inducible factor 3 subunit alpha Gene

Also Known as IPAS; MOP7; PASD7; HIF-3A; bHLHe17; HIF3-alpha-1

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 64344

About HIF3A

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:46,297,042-46,343,433 (from NCBI)

This gene has 19 transcripts (splice variants), 191 orthologues and 7 paralogues. Broad expression in placenta (RPKM 8.3), spleen (RPKM 6.6) and 17 other tissues.

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]

HIF3A Products (4)

mRNA Protein Name
NM_022462.4 NP_071907.4 hypoxia-inducible factor 3-alpha isoform b
NM_152794.4 NP_690007.1 hypoxia-inducible factor 3-alpha isoform a
NM_152795.4 NP_690008.2 hypoxia-inducible factor 3-alpha isoform c
NM_152796.2 NP_690009.1 hypoxia-inducible factor 3-alpha isoform d
Molecular Function GO Annotation Evidence 参考文献 由来
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
11573933 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
31768607 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16126907 GOA
Biological Process GO Annotation Evidence 参考文献 由来
NOT involved in cellular response to hypoxia IDA
IDA: Inferred from direct assay
11573933 GOA
involved in regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
11573933 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in chromatin IDA
IDA: Inferred from direct assay
31768607 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HIF3A Protein Structure

PAS

PAS: PAS fold (92 - 146)

PAS_11

PAS_11: PAS domain (241 - 343)

HIF-1

HIF-1: Hypoxia-inducible factor-1 (478 - 509)

  • 0
  • 200
  • 400
  • 600
  • 669 a.a.
Protein Preferred Names Protein Names

hypoxia-inducible factor 3-alpha

  • PAS domain-containing protein 7

関連疾患

Diseases Alias
Erythrocytosis, Familial, 4
  • ECYT4

  • Familial Erythrocytosis 4

  • Erythrocytosis, Familial, Type 4

Erythrocytosis, Familial, 3
  • ECYT3

  • Familial Erythrocytosis 3

  • Erythrocytosis, Familial, Type 3

Erythrocytosis, Familial, 8
  • Diphosphoglycerate Mutase Deficiency Of Erythrocyte

  • ECYT8

  • Bisphosphoglycerate Mutase Deficiency

  • Bisphosphoglyceromutase Deficiency

  • Bpgm Deficiency

  • Dpgm Deficiency

  • Deficiency Of Bisphosphoglycerate Mutase

  • Familial Erythrocytosis 8

  • Hemolytic Anemia Due To Diphosphoglycerate Mutase Deficiency

  • Erythrocytosis Due To Bisphosphoglycerate Mutase Deficiency

  • Erythrocytosis, Familial, Type 8

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

生物種 Symbol 由来 ID
Felis catus HIF3A VGNC VGNC:62814
Macaca mulatta HIF3A VGNC VGNC:73395
Mus musculus HIF3A MGD MGI:1859778
Rattus norvegicus HIF3A RGD RGD:70332
Bos taurus HIF3A VGNC VGNC:29850
Others HIF3A NCBI