UniProt functional annotation for Q92796



	UniProt functional annotation for Q92796

UniProt code: Q92796.

Organism: Homo sapiens (Human).

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

Function: Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.

Subunit: Interacts through its PDZ domains with NETO1, GRIN2B and SYNGAP1. Interacts through its guanylate kinase-like domain with DLGAP1, DLGAP2, DLGAP3 and DLGAP4. Interacts with FLTP/C1orf192 (By similarity). Interacts through its PDZ domains with APC. Interacts through its first two PDZ domains with ERBB4. Interacts through its third PDZ domain with NLGN1, and probably with NLGN2 and NLGN3. Interacts with FRMPD4 (via C-terminus). Interacts with LRFN1, LRFN2 and LRFN4. Interacts with DGKI (via PDZ-binding motif) (By similarity). {ECO:0000250|UniProtKB:P70175, ECO:0000250|UniProtKB:Q62936, ECO:0000269|PubMed:10725395, ECO:0000269|PubMed:16630835, ECO:0000269|PubMed:19118189, ECO:0000269|PubMed:9188857, ECO:0000269|PubMed:9278515}.

Disease: Mental retardation, X-linked 90 (MRX90) [MIM:300850]: 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:15185169}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the MAGUK family. {ECO:0000305}.

Sequence caution: Sequence=BAA86546.1; 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 learning most likely through its role in synaptic plasticity following NMDA receptor signaling.


Subunit:		Interacts through its PDZ domains with NETO1, GRIN2B and SYNGAP1. Interacts through its guanylate kinase-like domain with DLGAP1, DLGAP2, DLGAP3 and DLGAP4. Interacts with FLTP/C1orf192 (By similarity). Interacts through its PDZ domains with APC. Interacts through its first two PDZ domains with ERBB4. Interacts through its third PDZ domain with NLGN1, and probably with NLGN2 and NLGN3. Interacts with FRMPD4 (via C-terminus). Interacts with LRFN1, LRFN2 and LRFN4. Interacts with DGKI (via PDZ-binding motif) (By similarity). {ECO:0000250\|UniProtKB:P70175, ECO:0000250\|UniProtKB:Q62936, ECO:0000269\|PubMed:10725395, ECO:0000269\|PubMed:16630835, ECO:0000269\|PubMed:19118189, ECO:0000269\|PubMed:9188857, ECO:0000269\|PubMed:9278515}.
Disease:		Mental retardation, X-linked 90 (MRX90) [MIM:300850]: 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:15185169}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the MAGUK family. {ECO:0000305}.
Sequence caution:		Sequence=BAA86546.1; Type=Erroneous initiation; Evidence={ECO:0000305};