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This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
BLOC1S3 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 3) is a Protein Coding gene. Diseases associated with BLOC1S3 include Hermansky-Pudlak Syndrome 8 and Hermansky-Pudlak Syndrome. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0005515 | protein binding | IPI | 15102850 |
GO:0008320 | protein transmembrane transporter activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0030133 | transport vesicle | IDA | 17182842 |
GO:0031083 | BLOC-1 complex | IDA | 15102850 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Clathrin derived vesicle budding | ||
2 | Vesicle-mediated transport |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001654 | eye development | IMP | 16385460 |
GO:0007596 | blood coagulation | IEA | -- |
GO:0008089 | anterograde axonal transport | ISS | -- |
GO:0030168 | platelet activation | IMP | 16385460 |
GO:0031175 | neuron projection development | ISS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BLOC1S3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BLOC1S3 31 |
|
OneToOne | |
LOC100847456 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | BLOC1S3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bloc1s3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bloc1s3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | BLOC1S3 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BLOC1S3 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | bloc1s3 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
627065 | Uncertain Significance: Hermansky-Pudlak syndrome | 45,179,728(+) | T/TAGGCTGGCGGCAG | INFRAME_INSERTION | |
748524 | Likely Benign: not provided | 45,179,309(+) | G/A | MISSENSE_VARIANT | |
870134 | Pathogenic: Hermansky-Pudlak syndrome 8 | 45,179,729(+) | AGGCTGGCGGCAGCCC | INFRAME_DELETION | |
rs111903160 | Likely Benign: Hermansky-Pudlak syndrome | 45,180,851(+) | C/T | THREE_PRIME_UTR_VARIANT | |
rs115683085 | Likely Benign: Hermansky-Pudlak syndrome | 45,180,370(+) | A/T | THREE_PRIME_UTR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hermansky-pudlak syndrome 8 |
|
|
hermansky-pudlak syndrome |
|
|
oculocutaneous albinism |
|
|
storage pool platelet disease |
|
|
albinism, oculocutaneous, type iii |
|
|