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Gene: BORCS5 (BLOC-1 related complex subunit 5) Homo sapiens
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Symbol: BORCS5
Name: BLOC-1 related complex subunit 5
Description: INVOLVED IN lysosome localization; organelle transport along microtubule; ASSOCIATED WITH Developmental Disabilities; epilepsy; visual epilepsy; FOUND IN BORC complex; cytoplasmic side of lysosomal membrane; intrinsic component of membrane; INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 4,4'-sulfonyldiphenol; aflatoxin B1
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: BLOC-1-related complex subunit 5; LOH12CR1; LOH1CR12; loss of heterozygosity 12 chromosomal region 1 protein; loss of heterozygosity, 12, chromosomal region 1; myrlysin
Orthologs:
Mus musculus (house mouse) : Borcs5 (BLOC-1 related complex subunit 5)  MGI  Alliance
Rattus norvegicus (Norway rat) : Borcs5 (BLOC-1 related complex subunit 5)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Borcs5 (BLOC-1 related complex subunit 5)
Pan paniscus (bonobo/pygmy chimpanzee) : BORCS5 (BLOC-1 related complex subunit 5)
Canis lupus familiaris (dog) : BORCS5 (BLOC-1 related complex subunit 5)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Borcs5 (BLOC-1 related complex subunit 5)
Sus scrofa (pig) : BORCS5 (BLOC-1 related complex subunit 5)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381212,357,078 - 12,471,233 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371212,509,967 - 12,637,587 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361212,401,322 - 12,511,105 (+)NCBINCBI36hg18NCBI36
Build 341212,401,321 - 12,511,105NCBI
Celera1217,653,635 - 17,763,988 (+)NCBI
Cytogenetic Map12p13.2NCBI
HuRef1212,275,116 - 12,385,078 (+)NCBIHuRef
CHM1_11212,474,994 - 12,584,853 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on BORCS5
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1316927
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.