UniProt functional annotation for Q9NQW6



	UniProt functional annotation for Q9NQW6

UniProt code: Q9NQW6.

Organism: Homo sapiens (Human).

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

Function: Required for cytokinesis (PubMed:16040610). Essential for the structural integrity of the cleavage furrow and for completion of cleavage furrow ingression. Plays a role in bleb assembly during metaphase and anaphase of mitosis (PubMed:23870127). May play a significant role in podocyte cell migration (PubMed:24676636). {ECO:0000269|PubMed:10931866, ECO:0000269|PubMed:12479805, ECO:0000269|PubMed:15496454, ECO:0000269|PubMed:16040610, ECO:0000269|PubMed:16357138, ECO:0000269|PubMed:23870127, ECO:0000269|PubMed:24676636}.

Subunit: Interacts with F-actin (PubMed:10931866). Interacts with CD2AP (PubMed:15800069). May interact with RHOA (PubMed:16357138). Interacts with FZR1/CDH1 during mitotic exit (PubMed:16040610). {ECO:0000269|PubMed:10931866, ECO:0000269|PubMed:15800069, ECO:0000269|PubMed:16040610, ECO:0000269|PubMed:16357138}.

Subcellular location: Nucleus. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex {ECO:0000269|PubMed:23870127}. Cell projection, bleb {ECO:0000269|PubMed:23870127}. Note=Mainly found in the nucleus during interphase. Colocalizes with cortical F-actin upon nuclear envelope breakdown in mitosis and subsequently concentrates in the area of the prospective contractile ring in anaphase. This pattern persists until telophase, when the protein becomes concentrated in the midbody.

Tissue specificity: Ubiquitously expressed. Present at highest levels in the brain, at high levels in the placenta and testis, at intermediate levels in the intestine, ovary, skeletal muscle and thymus and at lower levels in heart, kidney, liver, lung, pancreas, prostate and spleen. In the kidney, it is widely expressed in tubules, but sparsely expressed in the glomerulus (PubMed:24676636). Expression is significantly increased in renal biopsy specimens from idiopathic FSGS (PubMed:24676636). Overexpressed in many tumor types including breast, colorectal, endometrial, hepatic, kidney, lung, ovarian and pancreatic tumors. {ECO:0000269|PubMed:16203764, ECO:0000269|PubMed:24676636}.

Developmental stage: Expressed in fetal brain, heart, kidney, liver, lung, skeletal muscle, spleen and thymus. In dividing cells expression increases during S and G2 phases, peaks at mitosis and subsequently drops as cells enter G1 phase. {ECO:0000269|PubMed:15800069, ECO:0000269|PubMed:16040610, ECO:0000269|PubMed:16203764, ECO:0000269|PubMed:16357138}.

Ptm: Phosphorylated during mitosis. {ECO:0000269|PubMed:15800069, ECO:0000269|PubMed:16357138}.

Ptm: Ubiquitinated, and this requires FZR1/CDH1. {ECO:0000269|PubMed:16040610}.

Disease: Focal segmental glomerulosclerosis 8 (FSGS8) [MIM:616032]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269|PubMed:24676636}. Note=The disease is caused by variants affecting the gene represented in this entry.

Sequence caution: Sequence=AAH34692.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91710.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91711.1; Type=Erroneous initiation; 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:		Required for cytokinesis (PubMed:16040610). Essential for the structural integrity of the cleavage furrow and for completion of cleavage furrow ingression. Plays a role in bleb assembly during metaphase and anaphase of mitosis (PubMed:23870127). May play a significant role in podocyte cell migration (PubMed:24676636). {ECO:0000269\|PubMed:10931866, ECO:0000269\|PubMed:12479805, ECO:0000269\|PubMed:15496454, ECO:0000269\|PubMed:16040610, ECO:0000269\|PubMed:16357138, ECO:0000269\|PubMed:23870127, ECO:0000269\|PubMed:24676636}.


Subunit:		Interacts with F-actin (PubMed:10931866). Interacts with CD2AP (PubMed:15800069). May interact with RHOA (PubMed:16357138). Interacts with FZR1/CDH1 during mitotic exit (PubMed:16040610). {ECO:0000269\|PubMed:10931866, ECO:0000269\|PubMed:15800069, ECO:0000269\|PubMed:16040610, ECO:0000269\|PubMed:16357138}.
Subcellular location:		Nucleus. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex {ECO:0000269\|PubMed:23870127}. Cell projection, bleb {ECO:0000269\|PubMed:23870127}. Note=Mainly found in the nucleus during interphase. Colocalizes with cortical F-actin upon nuclear envelope breakdown in mitosis and subsequently concentrates in the area of the prospective contractile ring in anaphase. This pattern persists until telophase, when the protein becomes concentrated in the midbody.
Tissue specificity:		Ubiquitously expressed. Present at highest levels in the brain, at high levels in the placenta and testis, at intermediate levels in the intestine, ovary, skeletal muscle and thymus and at lower levels in heart, kidney, liver, lung, pancreas, prostate and spleen. In the kidney, it is widely expressed in tubules, but sparsely expressed in the glomerulus (PubMed:24676636). Expression is significantly increased in renal biopsy specimens from idiopathic FSGS (PubMed:24676636). Overexpressed in many tumor types including breast, colorectal, endometrial, hepatic, kidney, lung, ovarian and pancreatic tumors. {ECO:0000269\|PubMed:16203764, ECO:0000269\|PubMed:24676636}.
Developmental stage:		Expressed in fetal brain, heart, kidney, liver, lung, skeletal muscle, spleen and thymus. In dividing cells expression increases during S and G2 phases, peaks at mitosis and subsequently drops as cells enter G1 phase. {ECO:0000269\|PubMed:15800069, ECO:0000269\|PubMed:16040610, ECO:0000269\|PubMed:16203764, ECO:0000269\|PubMed:16357138}.
Ptm:		Phosphorylated during mitosis. {ECO:0000269\|PubMed:15800069, ECO:0000269\|PubMed:16357138}.
Ptm:		Ubiquitinated, and this requires FZR1/CDH1. {ECO:0000269\|PubMed:16040610}.
Disease:		Focal segmental glomerulosclerosis 8 (FSGS8) [MIM:616032]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269\|PubMed:24676636}. Note=The disease is caused by variants affecting the gene represented in this entry.
Sequence caution:		Sequence=AAH34692.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91710.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91711.1; Type=Erroneous initiation; Evidence={ECO:0000305};