UniProt functional annotation for Q13459



	UniProt functional annotation for Q13459

UniProt code: Q13459.

Organism: Homo sapiens (Human).

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

Function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Binds actin with high affinity both in the absence and presence of ATP and its mechanochemical activity is inhibited by calcium ions (PubMed:9490638). Also acts as a GTPase activator for RHOA (PubMed:9490638, PubMed:26529257). Plays a role in the regulation of cell migration via its role as RHOA GTPase activator. This is regulated by its interaction with the SLIT2 receptor ROBO1; interaction with ROBO1 impairs interaction with RHOA and subsequent activation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOA (PubMed:26529257). {ECO:0000269|PubMed:26529257, ECO:0000269|PubMed:9490638}.

Subunit: Interacts (via IQ domains) with CALM (PubMed:9490638). Interacts with RHOA (PubMed:26529257). Interacts (via Rho-GAP domain) with ROBO1; this inhibits the interaction with RHOA and the stimulation of RHOA GTPase activity, and thereby increases the levels of active RHOA (PubMed:26529257). {ECO:0000269|PubMed:9490638}.

Subcellular location: Cytoplasm, cell cortex {ECO:0000269|PubMed:8907710}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:8907710}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:8907710, ECO:0000269|PubMed:9490638}. Note=In undifferentiated cells colocalizes with F-actin in the cell periphery while in differentiated cells its localization is cytoplasmic with the highest levels in the perinuclear region. {ECO:0000269|PubMed:8907710}.

Tissue specificity: Detected in peripheral blood leukocytes (at protein level) (PubMed:9490638). Expressed predominantly in peripheral blood leukocytes and at lower levels, in thymus, spleen, testis, prostate, ovary, brain, small intestine and lung. {ECO:0000269|PubMed:8907710, ECO:0000269|PubMed:9490638}.

Disease: Celiac disease 4 (CELIAC4) [MIM:609753]: A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Similarity: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. {ECO:0000305}.

Sequence caution: Sequence=AAC50402.1; Type=Miscellaneous discrepancy; Note=The C-terminal sequence from position 1917 onwards appears to be not correctly spliced.; Evidence={ECO:0000305}; Sequence=BAA92132.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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:		Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Binds actin with high affinity both in the absence and presence of ATP and its mechanochemical activity is inhibited by calcium ions (PubMed:9490638). Also acts as a GTPase activator for RHOA (PubMed:9490638, PubMed:26529257). Plays a role in the regulation of cell migration via its role as RHOA GTPase activator. This is regulated by its interaction with the SLIT2 receptor ROBO1; interaction with ROBO1 impairs interaction with RHOA and subsequent activation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOA (PubMed:26529257). {ECO:0000269\|PubMed:26529257, ECO:0000269\|PubMed:9490638}.


Subunit:		Interacts (via IQ domains) with CALM (PubMed:9490638). Interacts with RHOA (PubMed:26529257). Interacts (via Rho-GAP domain) with ROBO1; this inhibits the interaction with RHOA and the stimulation of RHOA GTPase activity, and thereby increases the levels of active RHOA (PubMed:26529257). {ECO:0000269\|PubMed:9490638}.
Subcellular location:		Cytoplasm, cell cortex {ECO:0000269\|PubMed:8907710}. Cytoplasm, perinuclear region {ECO:0000269\|PubMed:8907710}. Cytoplasm, cytoskeleton {ECO:0000269\|PubMed:8907710, ECO:0000269\|PubMed:9490638}. Note=In undifferentiated cells colocalizes with F-actin in the cell periphery while in differentiated cells its localization is cytoplasmic with the highest levels in the perinuclear region. {ECO:0000269\|PubMed:8907710}.
Tissue specificity:		Detected in peripheral blood leukocytes (at protein level) (PubMed:9490638). Expressed predominantly in peripheral blood leukocytes and at lower levels, in thymus, spleen, testis, prostate, ovary, brain, small intestine and lung. {ECO:0000269\|PubMed:8907710, ECO:0000269\|PubMed:9490638}.
Disease:		Celiac disease 4 (CELIAC4) [MIM:609753]: A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Similarity:		Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. {ECO:0000305}.
Sequence caution:		Sequence=AAC50402.1; Type=Miscellaneous discrepancy; Note=The C-terminal sequence from position 1917 onwards appears to be not correctly spliced.; Evidence={ECO:0000305}; Sequence=BAA92132.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};