BLOC1S6 - biogenesis of lysosomal organelles complex 1 subunit 6 Gene
Also Known as PA; HPS9; PLDN; BLOS6; PALLID
Species: Homo sapiens
About BLOC1S6
This gene has 21 transcripts (splice variants), 201 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 21.0), prostate (RPKM 17.5) and 25 other tissues.
Summary
The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
BLOC1S6 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001311255.1 | NP_001298184.1 | biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 1 |
| NM_001311256.1 | NP_001298185.1 | biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 3 |
| NM_012388.4 | NP_036520.1 | biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 2 |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables actin filament binding |
IDA
IDA: Inferred from direct assay
|
12019270 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
15102850 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12191018 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
12019270 | GOA |
| enables protein homodimerization activity |
IPI
IPI: Inferred from physical interaction
|
12019270 | GOA |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| involved in endosome to melanosome transport |
IDA
IDA: Inferred from direct assay
|
17182842 | GOA |
| involved in melanosome transport |
IDA
IDA: Inferred from direct assay
|
17182842 | GOA |
| involved in positive regulation of pigment cell differentiation |
IDA
IDA: Inferred from direct assay
|
17182842 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| part of BLOC-1 complex |
IDA
IDA: Inferred from direct assay
|
12019270 | GOA |
| part of BLOC-1 complex |
IPI
IPI: Inferred from physical interaction
|
22203680 | GOA |
| part of SNARE complex |
IDA
IDA: Inferred from direct assay
|
19546860 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
12019270 | GOA |
| located in membrane-bounded organelle |
IDA
IDA: Inferred from direct assay
|
12019270 | GOA |
| located in transport vesicle |
IDA
IDA: Inferred from direct assay
|
17182842 | GOA |
BLOC1S6 Protein Structure
Snapin_Pallidin: Snapin/Pallidin (49 - 141)
- 0
- 100
- 172 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
biogenesis of lysosome-related organelles complex 1 subunit 6 |
|
BLOC1S6 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
BLOC1S6 | Q9UL45 | CCDC136 | Homo sapiens | Q96JN2-2 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | CCDC136 | Homo sapiens | Q96JN2-2 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | KRT13 | Homo sapiens | A1A4E9 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | CCHCR1 | Homo sapiens | Q8TD31-3 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | TPM3 | Homo sapiens | Q5VU62 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | CORO6 | Homo sapiens | Q6QEF8 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | CDK5R1 | Homo sapiens | Q8N619 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | CDK5R1 | Homo sapiens | Q8N619 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | SYCE3 | Homo sapiens | A1L190 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | SYCE3 | Homo sapiens | A1L190 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | ABI2 | Homo sapiens | Q9NYB9-2 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | ABI2 | Homo sapiens | Q9NYB9-2 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | KRT72 | Homo sapiens | Q14CN4 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | KRT72 | Homo sapiens | Q14CN4 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | RABGEF1 | Homo sapiens | Q9UJ41-4 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | RABGEF1 | Homo sapiens | Q9UJ41-4 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | HAUS1 | Homo sapiens | Q96CS2 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | HAUS1 | Homo sapiens | Q96CS2 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | NUP62 | Homo sapiens | P37198 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | NUP62 | Homo sapiens | P37198 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | BLOC1S1 | Homo sapiens | P78537 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | BLOC1S1 | Homo sapiens | P78537 | 22203680 | |
|
Intra
|
BLOC1S6 | Q9UL45 | BLOC1S1 | Homo sapiens | P78537 | 33961781 | |
|
Intra
|
BLOC1S6 | Q9UL45 | BLOC1S1 | Homo sapiens | P78537 | 15102850 | |
|
Intra
|
BLOC1S6 | Q9UL45 | BLOC1S1 | Homo sapiens | P78537 | 15102850 | |
|
Intra
|
BLOC1S6 | Q9UL45 | BLOC1S1 | Homo sapiens | P78537 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | MED21 | Homo sapiens | Q13503 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | SMN1 | Homo sapiens | Q16637 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | SMN1 | Homo sapiens | Q16637 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | SMN1 | Homo sapiens | Q16637 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | SMN1 | Homo sapiens | Q16637 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | INSYN1 | Homo sapiens | Q2T9L4 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | INSYN1 | Homo sapiens | Q2T9L4 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | INSYN1 | Homo sapiens | Q2T9L4 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | SKA1 | Homo sapiens | Q96BD8 | 16189514 | |
|
Intra
|
BLOC1S6 | Q9UL45 | SKA1 | Homo sapiens | Q96BD8 | 31515488 | |
|
Intra
|
BLOC1S6 | Q9UL45 | SKA1 | Homo sapiens | Q96BD8 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | SKA1 | Homo sapiens | Q96BD8 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | SKA1 | Homo sapiens | Q96BD8 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | DTNBP1 | Homo sapiens | Q96EV8 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | DTNBP1 | Homo sapiens | Q96EV8 | 15102850 | |
|
Intra
|
BLOC1S6 | Q9UL45 | DTNBP1 | Homo sapiens | Q96EV8 | 33961781 | |
|
Intra
|
BLOC1S6 | Q9UL45 | DTNBP1 | Homo sapiens | Q96EV8 | 15102850 | |
|
Intra
|
BLOC1S6 | Q9UL45 | DTNBP1 | Homo sapiens | Q96EV8 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | DTNBP1 | Homo sapiens | Q96EV8 | 22203680 | |
|
Intra
|
BLOC1S6 | Q9UL45 | BLOC1S4 | Homo sapiens | Q9NUP1 | 15102850 | |
|
Intra
|
BLOC1S6 | Q9UL45 | BLOC1S4 | Homo sapiens | Q9NUP1 | 22203680 | |
|
Intra
|
BLOC1S6 | Q9UL45 | BLOC1S4 | Homo sapiens | Q9NUP1 | 33961781 | |
|
Intra
|
BLOC1S6 | Q9UL45 | C4orf46 | Homo sapiens | Q504U0 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | C4orf46 | Homo sapiens | Q504U0 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | MLPH | Homo sapiens | Q9BV36 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | MLPH | Homo sapiens | Q9BV36 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | STX1A | Homo sapiens | Q16623 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | STX1A | Homo sapiens | Q16623 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | WASHC3 | Homo sapiens | Q9Y3C0 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | WASHC3 | Homo sapiens | Q9Y3C0 | 16189514 | |
|
Intra
|
BLOC1S6 | Q9UL45 | WASHC3 | Homo sapiens | Q9Y3C0 | 33961781 | |
|
Intra
|
BLOC1S6 | Q9UL45 | WASHC3 | Homo sapiens | Q9Y3C0 | 31515488 | |
|
Intra
|
BLOC1S6 | Q9UL45 | WASHC3 | Homo sapiens | Q9Y3C0 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | WASHC3 | Homo sapiens | Q9Y3C0 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | STX11 | Homo sapiens | O75558 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | DCTN2 | Homo sapiens | Q13561 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | RINT1 | Homo sapiens | Q6NUQ1 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | RINT1 | Homo sapiens | Q6NUQ1 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | SKA1 | Homo sapiens | Q96BD8 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | SKA1 | Homo sapiens | Q96BD8 | 33961781 | |
|
Intra
|
BLOC1S6 | Q9UL45 | EXOC8 | Homo sapiens | Q8IYI6 | 16189514 | |
|
Intra
|
BLOC1S6 | Q9UL45 | PLEKHF2 | Homo sapiens | Q9H8W4 | 16189514 | |
|
Intra
|
BLOC1S6 | Q9UL45 | PLEKHF2 | Homo sapiens | Q9H8W4 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | PLEKHF2 | Homo sapiens | Q9H8W4 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | ABI2 | Homo sapiens | Q9NYB9 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | ABI2 | Homo sapiens | Q9NYB9 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | ABI2 | Homo sapiens | Q9NYB9 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | ABI2 | Homo sapiens | Q9NYB9 | 29892012 | |
|
Intra
|
BLOC1S6 | Q9UL45 | CEP44 | Homo sapiens | Q9C0F1 | 33961781 | |
|
Intra
|
BLOC1S6 | Q9UL45 | CEP44 | Homo sapiens | Q9C0F1 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | CEP44 | Homo sapiens | Q9C0F1 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | AGGF1 | Homo sapiens | Q8N302 | 33961781 | |
|
Intra
|
BLOC1S6 | Q9UL45 | AGGF1 | Homo sapiens | Q8N302 | 16189514 | |
|
Intra
|
BLOC1S6 | Q9UL45 | IFT20 | Homo sapiens | Q8IY31-3 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | IFT20 | Homo sapiens | Q8IY31-3 | 32296183 | |
|
Intra
|
BLOC1S6 | Q9UL45 | RABGEF1 | Homo sapiens | Q9UJ41 | 25416956 | |
|
Intra
|
BLOC1S6 | Q9UL45 | RABGEF1 | Homo sapiens | Q9UJ41 | 25416956 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hermansky-Pudlak Syndrome 9 |
|
|
| Hermansky-Pudlak Syndrome Due To Bloc-1 Deficiency |
|
|
| Hermansky-Pudlak Syndrome |
|
|
| Hermansky-Pudlak Syndrome 1 |
|
|
| Oculocutaneous Albinism |
|
|
| Hereditary Spherocytosis |
|
|
| Storage Pool Platelet Disease |
|
|
| Griscelli Syndrome, Type 1 |
|
|
| Bleeding Disorder, Platelet-Type, 8 |
|
|
| Familial Hemophagocytic Lymphohistiocytosis 5 |
|
|
| Griscelli Syndrome |
|
|
| Piebald Trait |
|
|
| Jacobsen Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | BLOC1S6 | MGD | MGI:1927580 |
| Bos taurus | BLOC1S6 | VGNC | VGNC:26509 |
| Felis catus | BLOC1S6 | VGNC | VGNC:81028 |
| Macaca mulatta | BLOC1S6 | VGNC | VGNC:70468 |
| Rattus norvegicus | BLOC1S6 | RGD | RGD:1310208 |
| Canis familiaris | BLOC1S6 | VGNC | VGNC:38470 |
| Others | BLOC1S6 | NCBI |