BORCS8
entrez
729991
canonical
uniprot
Q96FH0
canonical
ensembl
ENSG00000064489
resolver
ensembl
ENSG00000254901
resolver
ensp
ENSP00000424833
resolver
ensp
ENSP00000425864
resolver
genesymbol
BORCS8
resolver
genesymbol_syn
MEF2BNB
resolver
hgnc
HGNC:37247
resolver
uniprot
B2RXF9
resolver
uniprot
Q9BT01
resolver
uniprot_entry
BORC8_HUMAN
resolver
uniprot_sec
B2RXF9
resolver
uniprot_sec
Q9BT01
resolver
amino_acid_sequence
MEEPEMQLKGKKVTDKFTESVYVLANEPSVALYRLQEHVRRSLPELAQHKADMQRWEEQSQGAIYTVEYACSAVKNLVDSSVYFRSVEGLLKQAISIRDHMNASAQGHSPEEPPPPSSA
uniprot
proteins
disease_involvement
DISEASE: Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities (NDOABA) [MIM:620987]: An autosomal recessive, severe early-infantile disorder characterized by global developmental delay, severe to profound intellectual disability, hypotonia, limb spasticity, muscle wasting, dysmorphic facies, optic atrophy, leuko-axonopathy with hypomyelination, and neurodegenerative features with prevalent supratentorial involvement. {ECO:0000269|PubMed:38128568}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: As part of the BLOC-one-related complex (BORC), it plays a role in the movement and localization of lysosomes at the cell periphery (PubMed:25898167, PubMed:38128568). Associated with the cytosolic face of lysosomes, BORC recruits ARL8B to the lysosomal membrane and couples lysosomes to microtubule plus-end-directed kinesin motors, driving lysosome movement toward the cell periphery. {ECO:0000269|PubMed:38128568, ECO:0000305|PubMed:25898167}.
uniprot
proteins
mass_dalton
13403
uniprot
proteins
protein_family
BORCS8 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25898167
uniprot
proteins
pubmed
38128568
uniprot
proteins
sequence_length
119
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000305|PubMed:25898167}.
uniprot
proteins