UniProt functional annotation for P52732



	UniProt functional annotation for P52732

UniProt code: P52732.

Organism: Homo sapiens (Human).

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

Function: Motor protein required for establishing a bipolar spindle during mitosis (PubMed:19001501). Required in non-mitotic cells for transport of secretory proteins from the Golgi complex to the cell surface (PubMed:23857769). {ECO:0000269|PubMed:19001501, ECO:0000269|PubMed:23857769}.

Subunit: Interacts with the thyroid hormone receptor in the presence of thyroid hormone. Component of a large chromatin remodeling complex, at least composed of MYSM1, PCAF, RBM10 and KIF11/TRIP5. Interacts (via C- terminus) with the kinase NEK6 in both interphase and mitosis. {ECO:0000269|PubMed:17707232, ECO:0000269|PubMed:19001501}.

Subcellular location: Cytoplasm {ECO:0000269|PubMed:19001501, ECO:0000269|PubMed:23857769}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:19001501}.

Ptm: Phosphorylated exclusively on serine during S phase, but on both serine and Thr-926 during mitosis, so controlling the association of KIF11 with the spindle apparatus (probably during early prophase). {ECO:0000269|PubMed:19001501, ECO:0000269|PubMed:8548803}.

Ptm: A subset of this protein primarily localized at the spindle pole is phosphorylated by NEK6 during mitosis; phosphorylation is required for mitotic function. {ECO:0000269|PubMed:19001501}.

Disease: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]: An autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes. {ECO:0000269|PubMed:22284827}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. BimC subfamily. {ECO:0000255|PROSITE- ProRule:PRU00283}.

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:		Motor protein required for establishing a bipolar spindle during mitosis (PubMed:19001501). Required in non-mitotic cells for transport of secretory proteins from the Golgi complex to the cell surface (PubMed:23857769). {ECO:0000269\|PubMed:19001501, ECO:0000269\|PubMed:23857769}.


Subunit:		Interacts with the thyroid hormone receptor in the presence of thyroid hormone. Component of a large chromatin remodeling complex, at least composed of MYSM1, PCAF, RBM10 and KIF11/TRIP5. Interacts (via C- terminus) with the kinase NEK6 in both interphase and mitosis. {ECO:0000269\|PubMed:17707232, ECO:0000269\|PubMed:19001501}.
Subcellular location:		Cytoplasm {ECO:0000269\|PubMed:19001501, ECO:0000269\|PubMed:23857769}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269\|PubMed:19001501}.
Ptm:		Phosphorylated exclusively on serine during S phase, but on both serine and Thr-926 during mitosis, so controlling the association of KIF11 with the spindle apparatus (probably during early prophase). {ECO:0000269\|PubMed:19001501, ECO:0000269\|PubMed:8548803}.
Ptm:		A subset of this protein primarily localized at the spindle pole is phosphorylated by NEK6 during mitosis; phosphorylation is required for mitotic function. {ECO:0000269\|PubMed:19001501}.
Disease:		Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]: An autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes. {ECO:0000269\|PubMed:22284827}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. BimC subfamily. {ECO:0000255\|PROSITE- ProRule:PRU00283}.