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- Table of Contents
Facts about von Hippel-Lindau disease tumor suppressor.
Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive Fashion, ADRB2.
Human | |
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Gene Name: | VHL |
Uniprot: | P40337 |
Entrez: | 7428 |
Belongs to: |
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VHL family |
elongin binding protein; HRCA1; Protein G7; pVHL; RCA1; VHL; VHL1; von Hippel-Lindau disease tumor suppressor; von Hippel-Lindau syndrome; von Hippel-Lindau tumor suppressor
Mass (kDA):
24.153 kDA
Human | |
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Location: | 3p25.3 |
Sequence: | 3; NC_000003.12 (10141778..10153667) |
Expressed in the adult and fetal brain and kidney.
[Isoform 1]: Cytoplasm. Membrane; Peripheral membrane protein. Nucleus. Found predominantly in the cytoplasm and with less amounts nuclear or membrane-associated. Colocalizes with ADRB2 at the cell membrane.; [Isoform 3]: Cytoplasm. Nucleus. Equally distributed between the nucleus and the cytoplasm but not membrane-associated.
PMID: 8493574 by Latif F., et al. Identification of the von Hippel-Lindau disease tumor suppressor gene.
PMID: 8733131 by Richards F.M., et al. Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis.