UniProt functional annotation for Q9NZN5



	UniProt functional annotation for Q9NZN5

UniProt code: Q9NZN5.

Organism: Homo sapiens (Human).

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

Function: May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. {ECO:0000269|PubMed:11094164}.

Subunit: Interacts with GNA12 and GNA13, probably through the RGS-like domain. Interacts with RHOA, PLXNB1 and PLXNB2. Interacts through its PDZ domain with IGF1R beta subunit. Interacts with GCSAM. {ECO:0000269|PubMed:11094164, ECO:0000269|PubMed:11724822, ECO:0000269|PubMed:12183458, ECO:0000269|PubMed:12372594, ECO:0000269|PubMed:15331592, ECO:0000269|PubMed:18411422, ECO:0000269|PubMed:20844236}.

Subcellular location: Cytoplasm {ECO:0000305}. Membrane {ECO:0000305}. Note=Translocated to the membrane upon stimulation. {ECO:0000305}.

Tissue specificity: Ubiquitously expressed. Isoform 2 is found in jejunum and testis.

Disease: Note=A chromosomal aberration involving ARHGEF12 may be a cause of acute leukemia. Translocation t(11;11)(q23;23) with KMT2A/MLL1. {ECO:0000269|PubMed:10681437}.

Sequence caution: Sequence=AAH63117.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={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:		May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. {ECO:0000269\|PubMed:11094164}.


Subunit:		Interacts with GNA12 and GNA13, probably through the RGS-like domain. Interacts with RHOA, PLXNB1 and PLXNB2. Interacts through its PDZ domain with IGF1R beta subunit. Interacts with GCSAM. {ECO:0000269\|PubMed:11094164, ECO:0000269\|PubMed:11724822, ECO:0000269\|PubMed:12183458, ECO:0000269\|PubMed:12372594, ECO:0000269\|PubMed:15331592, ECO:0000269\|PubMed:18411422, ECO:0000269\|PubMed:20844236}.
Subcellular location:		Cytoplasm {ECO:0000305}. Membrane {ECO:0000305}. Note=Translocated to the membrane upon stimulation. {ECO:0000305}.
Tissue specificity:		Ubiquitously expressed. Isoform 2 is found in jejunum and testis.
Disease:		Note=A chromosomal aberration involving ARHGEF12 may be a cause of acute leukemia. Translocation t(11;11)(q23;23) with KMT2A/MLL1. {ECO:0000269\|PubMed:10681437}.
Sequence caution:		Sequence=AAH63117.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};