UniProt functional annotation for Q9Y296



	UniProt functional annotation for Q9Y296

UniProt code: Q9Y296.

Organism: Homo sapiens (Human).

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

Function: Core component of the TRAPP complexes which has a function of guanine nucleotide exchange factor activity for Rab1 GTPase (Probable). Plays a role in vesicular transport from endoplasmic reticulum to Golgi and autophagy (PubMed:31794024). May play a role in dendrite postsynaptic membrane trafficking (By similarity). {ECO:0000250|UniProtKB:Q9ES56, ECO:0000269|PubMed:31794024, ECO:0000305|PubMed:31794024}.

Subunit: Component of the multisubunit TRAPP (transport protein particle) complex, which includes at least TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and TRAPPC12 (Probable). Interacts with SDC2 (By similarity). {ECO:0000250|UniProtKB:Q9ES56, ECO:0000305|PubMed:31794024}.

Subcellular location: Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:Q9ES56}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q9ES56}. Endoplasmic reticulum {ECO:0000250|UniProtKB:Q9ES56}. Vesicle {ECO:0000250|UniProtKB:Q9ES56}. Note=Associated with postsynaptic membranes and in intracellular cisterns and vesicles (Golgi). {ECO:0000250|UniProtKB:Q9ES56}.

Disease: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NEDESBA) [MIM:618741]: An autosomal recessive disorder characterized by severely impaired global development apparent soon after birth, early-onset seizures, lack of psychomotor development, spastic quadriparesis, progressive cortical and cerebellar atrophy, and dysmorphic features, including microcephaly. Death in childhood may occur. {ECO:0000269|PubMed:31794024}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the TRAPP small subunits family. TRAPPC4 subfamily. {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:		Core component of the TRAPP complexes which has a function of guanine nucleotide exchange factor activity for Rab1 GTPase (Probable). Plays a role in vesicular transport from endoplasmic reticulum to Golgi and autophagy (PubMed:31794024). May play a role in dendrite postsynaptic membrane trafficking (By similarity). {ECO:0000250\|UniProtKB:Q9ES56, ECO:0000269\|PubMed:31794024, ECO:0000305\|PubMed:31794024}.


Subunit:		Component of the multisubunit TRAPP (transport protein particle) complex, which includes at least TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and TRAPPC12 (Probable). Interacts with SDC2 (By similarity). {ECO:0000250\|UniProtKB:Q9ES56, ECO:0000305\|PubMed:31794024}.
Subcellular location:		Cell junction, synapse, postsynaptic cell membrane {ECO:0000250\|UniProtKB:Q9ES56}. Golgi apparatus membrane {ECO:0000250\|UniProtKB:Q9ES56}. Endoplasmic reticulum {ECO:0000250\|UniProtKB:Q9ES56}. Vesicle {ECO:0000250\|UniProtKB:Q9ES56}. Note=Associated with postsynaptic membranes and in intracellular cisterns and vesicles (Golgi). {ECO:0000250\|UniProtKB:Q9ES56}.
Disease:		Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NEDESBA) [MIM:618741]: An autosomal recessive disorder characterized by severely impaired global development apparent soon after birth, early-onset seizures, lack of psychomotor development, spastic quadriparesis, progressive cortical and cerebellar atrophy, and dysmorphic features, including microcephaly. Death in childhood may occur. {ECO:0000269\|PubMed:31794024}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the TRAPP small subunits family. TRAPPC4 subfamily. {ECO:0000305}.