UniProt functional annotation for Q9UQ26



	UniProt functional annotation for Q9UQ26

UniProt code: Q9UQ26.

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. May act as scaffold protein. Plays a role in dendrite formation by melanocytes (PubMed:23999003). {ECO:0000269|PubMed:23999003}.

Subunit: Interacts with RAB3A and RAB3B that have been activated by GTP-binding. Interacts with RAB3C, RAB3D and RAB26. Interacts with TSPOAP1 and RIMBP2. Interacts with PPFIA3 and PPFIA4. Interacts via its zinc finger with the first C2 domain of UNC13A. Forms a complex consisting of UNC13A, RIMS2 and RAB3A. Heterodimer with PCLO. Part of a ternary complex involving PCLO and EPAC2 (By similarity). {ECO:0000250}.

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: Widely expressed (PubMed:32470375). Expressed in melanocytes (PubMed:23999003). In fetal tissues, predominantly expressed in the brain (PubMed:32470375). In the retina, expressed in the outer plexiform layer (at protein level) (PubMed:32470375). In the cerebellum, expressed in Purkinje cells (at protein level) (PubMed:32470375). In the pancreas, expressed in Langerhans islets (at protein level) (PubMed:32470375). {ECO:0000269|PubMed:23999003, ECO:0000269|PubMed:32470375}.

Disease: Cone-rod synaptic disorder syndrome, congenital non- progressive (CRSDS) [MIM:618970]: An autosomal recessive disorder characterized by reduced visual acuity, photophobia, nystagmus, distinctive electroretinographic features, neurodevelopmental delay, poor or absent language, autistic behaviors, and abnormal glucose homeostasis. {ECO:0000269|PubMed:32470375}. Note=The disease is caused by variants affecting the gene represented in this entry.

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

Miscellaneous: [Isoform 4]: May be due to an intron retention. {ECO:0000305}.

Miscellaneous: [Isoform 5]: May be due to an intron retention. {ECO:0000305}.

Sequence caution: Sequence=BAA34471.2; Type=Erroneous initiation; Note=Extended N-terminus.; 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. May act as scaffold protein. Plays a role in dendrite formation by melanocytes (PubMed:23999003). {ECO:0000269\|PubMed:23999003}.


Subunit:		Interacts with RAB3A and RAB3B that have been activated by GTP-binding. Interacts with RAB3C, RAB3D and RAB26. Interacts with TSPOAP1 and RIMBP2. Interacts with PPFIA3 and PPFIA4. Interacts via its zinc finger with the first C2 domain of UNC13A. Forms a complex consisting of UNC13A, RIMS2 and RAB3A. Heterodimer with PCLO. Part of a ternary complex involving PCLO and EPAC2 (By similarity). {ECO:0000250}.
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:		Widely expressed (PubMed:32470375). Expressed in melanocytes (PubMed:23999003). In fetal tissues, predominantly expressed in the brain (PubMed:32470375). In the retina, expressed in the outer plexiform layer (at protein level) (PubMed:32470375). In the cerebellum, expressed in Purkinje cells (at protein level) (PubMed:32470375). In the pancreas, expressed in Langerhans islets (at protein level) (PubMed:32470375). {ECO:0000269\|PubMed:23999003, ECO:0000269\|PubMed:32470375}.
Disease:		Cone-rod synaptic disorder syndrome, congenital non- progressive (CRSDS) [MIM:618970]: An autosomal recessive disorder characterized by reduced visual acuity, photophobia, nystagmus, distinctive electroretinographic features, neurodevelopmental delay, poor or absent language, autistic behaviors, and abnormal glucose homeostasis. {ECO:0000269\|PubMed:32470375}. Note=The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous:		[Isoform 2]: May be due to an intron retention. {ECO:0000305}.
Miscellaneous:		[Isoform 4]: May be due to an intron retention. {ECO:0000305}.
Miscellaneous:		[Isoform 5]: May be due to an intron retention. {ECO:0000305}.
Sequence caution:		Sequence=BAA34471.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};