UniProt functional annotation for Q6XZF7



	UniProt functional annotation for Q6XZF7

UniProt code: Q6XZF7.

Organism: Homo sapiens (Human).

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

Function: Plays a critical role as a guanine nucleotide exchange factor (GEF) for CDC42 in several intracellular processes associated with the actin and microtubule cytoskeleton. Regulates the structure of apical junctions through F-actin organization in epithelial cells (PubMed:19767742, PubMed:17015620). Participates in the normal lumenogenesis of epithelial cell cysts by regulating spindle orientation (PubMed:20479467). Plays a role in ciliogenesis (By similarity). May play a role in membrane trafficking between the cell surface and the Golgi (By similarity). {ECO:0000250|UniProtKB:E2RP94, ECO:0000250|UniProtKB:Q6TXD4, ECO:0000269|PubMed:17015620, ECO:0000269|PubMed:19767742, ECO:0000269|PubMed:20479467}.

Subunit: Binds DNM1 via its N-terminal SH3 domains. The C-terminal SH3 domain binds a complex containing actin, tubulin, Hsp70 and actin- regulatory proteins, such as ENAH, EVL, WIRE, CR16, WAVE1 and NAP1L1 (By similarity). Interacts with FASLG (PubMed:19807924). Interacts (via SH3 domain 6) with WASL (PubMed:19767742, PubMed:24332715, PubMed:17015620). Interacts (via SH3 domain 6) interacts with ENAH (PubMed:24332715). Interacts (via C-terminal domain) with TJP1; required for the apical cell-cell junction localization of DNMBP (PubMed:17015620). {ECO:0000250, ECO:0000250|UniProtKB:Q6TXD4, ECO:0000269|PubMed:17015620, ECO:0000269|PubMed:19767742, ECO:0000269|PubMed:19807924, ECO:0000269|PubMed:24332715}.

Subunit: (Microbial infection) Interacts (via SH3 domain 6) with L.monocytogenes InlC. {ECO:0000269|PubMed:19767742, ECO:0000269|PubMed:24332715}.

Subcellular location: Cytoplasm {ECO:0000269|PubMed:17015620}. Golgi apparatus, Golgi stack {ECO:0000250|UniProtKB:Q6TXD4}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q6TXD4}. Cell junction, synapse {ECO:0000250|UniProtKB:M0R4F8}. Cell junction {ECO:0000269|PubMed:17015620}. Note=Localizes to the apical junction, colocalizes with TJP1. {ECO:0000269|PubMed:17015620}.

Tissue specificity: Detected in heart, brain, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:14506234}.

Disease: Cataract 48 (CTRCT48) [MIM:618415]: A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT48 is an autosomal recessive form characterized by infantile or early- childhood onset. {ECO:0000269|PubMed:30290152}. Note=The disease is caused by variants affecting the gene represented in this entry.

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:		Plays a critical role as a guanine nucleotide exchange factor (GEF) for CDC42 in several intracellular processes associated with the actin and microtubule cytoskeleton. Regulates the structure of apical junctions through F-actin organization in epithelial cells (PubMed:19767742, PubMed:17015620). Participates in the normal lumenogenesis of epithelial cell cysts by regulating spindle orientation (PubMed:20479467). Plays a role in ciliogenesis (By similarity). May play a role in membrane trafficking between the cell surface and the Golgi (By similarity). {ECO:0000250\|UniProtKB:E2RP94, ECO:0000250\|UniProtKB:Q6TXD4, ECO:0000269\|PubMed:17015620, ECO:0000269\|PubMed:19767742, ECO:0000269\|PubMed:20479467}.


Subunit:		Binds DNM1 via its N-terminal SH3 domains. The C-terminal SH3 domain binds a complex containing actin, tubulin, Hsp70 and actin- regulatory proteins, such as ENAH, EVL, WIRE, CR16, WAVE1 and NAP1L1 (By similarity). Interacts with FASLG (PubMed:19807924). Interacts (via SH3 domain 6) with WASL (PubMed:19767742, PubMed:24332715, PubMed:17015620). Interacts (via SH3 domain 6) interacts with ENAH (PubMed:24332715). Interacts (via C-terminal domain) with TJP1; required for the apical cell-cell junction localization of DNMBP (PubMed:17015620). {ECO:0000250, ECO:0000250\|UniProtKB:Q6TXD4, ECO:0000269\|PubMed:17015620, ECO:0000269\|PubMed:19767742, ECO:0000269\|PubMed:19807924, ECO:0000269\|PubMed:24332715}.
Subunit:		(Microbial infection) Interacts (via SH3 domain 6) with L.monocytogenes InlC. {ECO:0000269\|PubMed:19767742, ECO:0000269\|PubMed:24332715}.
Subcellular location:		Cytoplasm {ECO:0000269\|PubMed:17015620}. Golgi apparatus, Golgi stack {ECO:0000250\|UniProtKB:Q6TXD4}. Cytoplasm, cytoskeleton {ECO:0000250\|UniProtKB:Q6TXD4}. Cell junction, synapse {ECO:0000250\|UniProtKB:M0R4F8}. Cell junction {ECO:0000269\|PubMed:17015620}. Note=Localizes to the apical junction, colocalizes with TJP1. {ECO:0000269\|PubMed:17015620}.
Tissue specificity:		Detected in heart, brain, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269\|PubMed:14506234}.
Disease:		Cataract 48 (CTRCT48) [MIM:618415]: A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT48 is an autosomal recessive form characterized by infantile or early- childhood onset. {ECO:0000269\|PubMed:30290152}. Note=The disease is caused by variants affecting the gene represented in this entry.