UniProt functional annotation for Q86UR5



	UniProt functional annotation for Q86UR5

UniProt code: Q86UR5.

Organism: Homo sapiens (Human).

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

Function: Rab effector involved in exocytosis (By similarity). May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003). {ECO:0000250|UniProtKB:Q99NE5, ECO:0000269|PubMed:23999003}.

Subunit: Binds RAB3A, RAB3B and RAB3D that have been activated by GTP- binding. Interacts with RAB3C, RAB10, RAB26 AND RAB37. Binds UNC13A. Interacts with TSPOAP1 and RIMBP2. Interacts with PPFIA3 and PPFIA4. Interacts with ERC1 (By similarity). Binds SNAP25, SYT1 and CACNA1B. Interaction with SYT1 is enhanced by calcium ions. Interaction with SNAP25 is weaker in the presence of calcium ions. {ECO:0000250, ECO:0000269|PubMed:11438518}.

Subcellular location: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.

Tissue specificity: Expressed in melanocytes (PubMed:23999003). Detected in brain and retina (PubMed:23999003). {ECO:0000269|PubMed:23999003}.

Ptm: Phosphorylated by BRSK1. {ECO:0000250}.

Disease: Cone-rod dystrophy 7 (CORD7) [MIM:603649]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:12659814}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Miscellaneous: [Isoform 2]: May be due to intron retention. {ECO:0000305}.

Sequence caution: Sequence=BAA20798.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI39600.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI42135.1; Type=Erroneous gene model prediction; 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:		Rab effector involved in exocytosis (By similarity). May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003). {ECO:0000250\|UniProtKB:Q99NE5, ECO:0000269\|PubMed:23999003}.


Subunit:		Binds RAB3A, RAB3B and RAB3D that have been activated by GTP- binding. Interacts with RAB3C, RAB10, RAB26 AND RAB37. Binds UNC13A. Interacts with TSPOAP1 and RIMBP2. Interacts with PPFIA3 and PPFIA4. Interacts with ERC1 (By similarity). Binds SNAP25, SYT1 and CACNA1B. Interaction with SYT1 is enhanced by calcium ions. Interaction with SNAP25 is weaker in the presence of calcium ions. {ECO:0000250, ECO:0000269\|PubMed:11438518}.
Subcellular location:		Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
Tissue specificity:		Expressed in melanocytes (PubMed:23999003). Detected in brain and retina (PubMed:23999003). {ECO:0000269\|PubMed:23999003}.
Ptm:		Phosphorylated by BRSK1. {ECO:0000250}.
Disease:		Cone-rod dystrophy 7 (CORD7) [MIM:603649]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269\|PubMed:12659814}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Miscellaneous:		[Isoform 2]: May be due to intron retention. {ECO:0000305}.
Sequence caution:		Sequence=BAA20798.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI39600.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI42135.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};