UniProt functional annotation for Q96BZ9



	UniProt functional annotation for Q96BZ9

UniProt code: Q96BZ9.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude.

Subunit: (Microbial infection) Directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A. {ECO:0000269|PubMed:17686842}.

Subcellular location: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Domain: The arginine and glutamine fingers are critical for the GTPase- activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site. {ECO:0000269|PubMed:23236136}.

Disease: Warburg micro syndrome 4 (WARBM4) [MIM:615663]: A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. {ECO:0000269|PubMed:24239381}. Note=The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous: [Isoform 2]: May be due to intron retention. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude.


Subunit:		(Microbial infection) Directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A. {ECO:0000269\|PubMed:17686842}.
Subcellular location:		Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Domain:		The arginine and glutamine fingers are critical for the GTPase- activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site. {ECO:0000269\|PubMed:23236136}.
Disease:		Warburg micro syndrome 4 (WARBM4) [MIM:615663]: A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. {ECO:0000269\|PubMed:24239381}. Note=The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous:		[Isoform 2]: May be due to intron retention. {ECO:0000305}.