TBC1D20

This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

Description

TBC1 domain family member 20

Tissue specificity

Low tissue specificity

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

20 (423596 - 462566)

Ensembl ID

ENSG00000125875  (ver. 103.38)

Orthologs

Mouse Tbc1d20: ENSMUSG00000027465

UniProt

Q96BZ9

neXtProt

NX_Q96BZ9

Human splice variants
Mouse splice variants

Protein structure