UniProt functional annotation for Q14CM0



	UniProt functional annotation for Q14CM0

UniProt code: Q14CM0.

Organism: Homo sapiens (Human).

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

Function: Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate. {ECO:0000269|PubMed:19118189}.

Subunit: Interacts (via C-terminus) with DLG1, DLG2, DLG3 and DLG4/PSD95. Interacts (via N-terminus) with ARHGEF7; the interaction is mediated by the PDZ domain (PubMed:19118189). Interacts with GPSM2 (via TPR repeat region) (PubMed:25664792). {ECO:0000269|PubMed:19118189, ECO:0000269|PubMed:25664792}.

Subcellular location: Cell projection, dendritic spine {ECO:0000269|PubMed:19118189}.

Domain: The FERM domain mediates the interaction with phosphatidylinositol 4,5-bisphosphate. {ECO:0000269|PubMed:19118189}.

Disease: Mental retardation, X-linked 104 (MRX104) [MIM:300983]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X- linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269|PubMed:25644381}. 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:		Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate. {ECO:0000269\|PubMed:19118189}.


Subunit:		Interacts (via C-terminus) with DLG1, DLG2, DLG3 and DLG4/PSD95. Interacts (via N-terminus) with ARHGEF7; the interaction is mediated by the PDZ domain (PubMed:19118189). Interacts with GPSM2 (via TPR repeat region) (PubMed:25664792). {ECO:0000269\|PubMed:19118189, ECO:0000269\|PubMed:25664792}.
Subcellular location:		Cell projection, dendritic spine {ECO:0000269\|PubMed:19118189}.
Domain:		The FERM domain mediates the interaction with phosphatidylinositol 4,5-bisphosphate. {ECO:0000269\|PubMed:19118189}.
Disease:		Mental retardation, X-linked 104 (MRX104) [MIM:300983]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X- linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269\|PubMed:25644381}. Note=The disease is caused by variants affecting the gene represented in this entry.