Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	118426
Gene name Gene Name - the full gene name approved by the HGNC.	BLOC-1 related complex subunit 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BORCS5
Synonyms (NCBI Gene) Gene synonyms aliases	LOH12CR1, LOH1CR12
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p13.2

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555155556	G>T	Likely-pathogenic	Splice acceptor variant

Show/Hide all(67)

miRTarBase ID	miRNA	Experiments	Reference
MIRT664015	hsa-miR-10a-5p	HITS-CLIP	23824327
MIRT664014	hsa-miR-10b-5p	HITS-CLIP	23824327
MIRT664013	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT664012	hsa-miR-4421	HITS-CLIP	23824327
MIRT664011	hsa-miR-5699-3p	HITS-CLIP	23824327
MIRT664010	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT664009	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT664008	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT664007	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT664006	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT664005	hsa-miR-4725-5p	HITS-CLIP	23824327
MIRT614361	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT614360	hsa-miR-764	HITS-CLIP	23824327
MIRT614359	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT614358	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT637611	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT637610	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT614357	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT614356	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT614355	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT614354	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT614353	hsa-miR-6128	HITS-CLIP	23824327
MIRT614352	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT614351	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT614350	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT614349	hsa-miR-1299	HITS-CLIP	23824327
MIRT614348	hsa-miR-640	HITS-CLIP	23824327
MIRT614361	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT614360	hsa-miR-764	HITS-CLIP	23824327
MIRT614359	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT614358	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT637611	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT637610	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT614357	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT614356	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT614355	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT614354	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT614353	hsa-miR-6128	HITS-CLIP	23824327
MIRT614352	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT614351	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT614350	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT614349	hsa-miR-1299	HITS-CLIP	23824327
MIRT614348	hsa-miR-640	HITS-CLIP	23824327
MIRT614361	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT614360	hsa-miR-764	HITS-CLIP	23824327
MIRT614359	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT614358	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT614357	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT614356	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT614355	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT614354	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT614353	hsa-miR-6128	HITS-CLIP	23824327
MIRT614352	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT614351	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT614350	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT614349	hsa-miR-1299	HITS-CLIP	23824327
MIRT614348	hsa-miR-640	HITS-CLIP	23824327
MIRT530251	hsa-miR-362-5p	PAR-CLIP	22012620
MIRT530250	hsa-miR-500b-5p	PAR-CLIP	22012620
MIRT530249	hsa-miR-6729-3p	PAR-CLIP	22012620
MIRT530248	hsa-miR-5196-3p	PAR-CLIP	22012620
MIRT530247	hsa-miR-4793-5p	PAR-CLIP	22012620
MIRT530246	hsa-miR-6793-3p	PAR-CLIP	22012620
MIRT530245	hsa-miR-205-5p	PAR-CLIP	22012620
MIRT530244	hsa-miR-6870-3p	PAR-CLIP	22012620
MIRT530243	hsa-miR-7108-5p	PAR-CLIP	22012620
MIRT530242	hsa-miR-4474-3p	PAR-CLIP	22012620

Show/Hide all(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 25898167, 32296183, 32814053
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005873	Component	Plus-end kinesin complex	IDA	25898167
GO:0005886	Component	Plasma membrane	IDA
GO:0007399	Process	Nervous system development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	IMP	25898167
GO:0030424	Component	Axon	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0032418	Process	Lysosome localization	IBA
GO:0032418	Process	Lysosome localization	IEA
GO:0032418	Process	Lysosome localization	IMP	25898167
GO:0032418	Process	Lysosome localization	NAS	25898167
GO:0051036	Process	Regulation of endosome size	NAS	31314175
GO:0062196	Process	Regulation of lysosome size	NAS	31314175
GO:0072384	Process	Organelle transport along microtubule	IBA
GO:0072384	Process	Organelle transport along microtubule	IEA
GO:0072384	Process	Organelle transport along microtubule	IMP	25898167
GO:0072384	Process	Organelle transport along microtubule	NAS	25898167
GO:0098574	Component	Cytoplasmic side of lysosomal membrane	IBA
GO:0098574	Component	Cytoplasmic side of lysosomal membrane	IMP	25898167
GO:0098574	Component	Cytoplasmic side of lysosomal membrane	NAS	25898167
GO:0099078	Component	BORC complex	IBA
GO:0099078	Component	BORC complex	IDA	25898167
GO:0099078	Component	BORC complex	IPI	25898167
GO:1903744	Process	Positive regulation of anterograde synaptic vesicle transport	IBA

MIM	HGNC	e!Ensembl
616598	17950	ENSG00000165714

Protein

UniProt ID

Q969J3

Protein name

BLOC-1-related complex subunit 5 (Loss of heterozygosity 12 chromosomal region 1) (Myristoylated lysosomal protein) (Myrlysin)

Protein function

As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed k

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10158	LOH1CR12	61 → 191	Tumour suppressor protein	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed (at protein level). {ECO:0000269|PubMed:11896457, ECO:0000269|PubMed:25898167}.

Sequence

MGSEQSSEAESRPNDLNSSVTPSPAKHRAKMDDIVVVAQGSQASRNVSNDPDVIKLQEIP
TFQPLLKGLLSGQTSPTNAKLEKLDSQQVLQLCLRYQDHLHQCAEAVAFDQNALVKRIKE
MDLSVETLFSFMQERQKRYAKYAEQIQKVNEMSAILRRIQMGIDQTVPLLDRLNSMLPEG
ERLEPFSMKPDRELRL

Sequence length

196

Interactions

View interactions

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Acne	acne vulgaris	N/A	N/A	GWAS
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Colorectal Neoplasms	Associate	34996992
Neoplasms	Associate	34135559, 34996992
Stomach Neoplasms	Associate	34135559

BORCS5 (BLOC-1 related complex subunit 5)