1. Gene
  2. BLOC1S6 - biogenesis of lysosomal organelles complex 1 subunit 6 Gene

BLOC1S6 - biogenesis of lysosomal organelles complex 1 subunit 6 Gene

Homo sapiens

Also known as PA; HPS9; PLDN; BLOS6; PALLID

Gene ID: 26258 | Gene type: protein coding

About BLOC1S6

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:45,587,123-45,609,716 (from NCBI)

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BLOC1S6 Protein Structure

Snapin_Pallidin

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

BLOC-1 subunit 6

BLOC1S6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
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
Y2H
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
Y2H
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
Y2H
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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hermansky-Pudlak Syndrome 9

HPS9

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 9

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermansky-Pudlak Syndrome Due To Bloc-1 Deficiency
Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

Hermansky-Pudlak Syndrome 1

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

HPS1

Delta Storage Pool Disease

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Hermansky-Pudlak Syndrome, Type 1

Platelet Storage Pool Deficiency

Oculocutaneous Albinism

Albinism, Oculocutaneous

Oca

Albinism Oculocutaneous

Oca - [Oculocutaneous Albinism]

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic

Storage Pool Platelet Disease

Platelet Storage Pool Deficiency

Storage Pool Disease Of Platelets

Dense Body Defect

Platelet Dense Granule Deficiency

Platelet Storage Pool Defect

Platelet Storage Pool Diseases

Alpha Delta Granule Deficiency

Alpha Dense Granule Deficiency

Combined Alpha-Delta Platelet Storage Pool Deficiency

Griscelli Syndrome, Type 1

Griscelli Syndrome Type 1

GS1

Griscelli Syndrome With Neurologic Impairment

Partial Albinism And Primary Neurologic Disease Without Hemophagocytic Syndrome

Griscelli Syndrome, Cutaneous And Neurologic Type

Griscelli-Prunieras Syndrome Type 1

Hypopigmentation-Neurologic Impairment Syndrome

Griscelli Syndrome With Neurological Impairment

Griscelli Syndrome, Cutaneous And Neurological Type

Pigmentary Dilution Of The Skin And Hair, The Presence Of Large Clumps Of Pigment In Hair Shafts

Griscelli Syndrome 1

Griscelli Syndrome With Primary Neurologic Impairment

Bleeding Disorder, Platelet-Type, 8

Bleeding Disorder Due To P2ry12 Defect

Platelet-Type Bleeding Disorder 8

BDPLT8

Adp Platelet Receptor P2y12 Defect

P2y12 Defect

Bleeding Disorder Due To Adp Platelet Receptor P2y12 Defect

Bleeding Disorder Due To P2y12 Defect

Bleeding Disorder Due To P2rx1 Defect, Somatic

Bleeding Disorder, Platelet-Type 8

Adp Platelet Receptor P2y12 Deficiency

P2ry12 Deficiency

P2y12 Deficiency

Bleeding Disorder, Platelet Type 8

Familial Hemophagocytic Lymphohistiocytosis 5

Fhl5

Hlh5

Hplh5

Lymphohistiocytosis, Hemophagocytic, Familial, Type 5

Griscelli Syndrome

Chediak-Higashi-Like Syndrome

Griscelli-Prunieras Syndrome

Partial Albinism-Immunodeficiency Syndrome

Griscelli Disease

Gs

Hypopigmentation Immunodeficiency Disease

Partial Albinism With Immunodeficiency

Immunodeficiency Syndrome With Hypopigmentation

Hypopigmentation-Immunodeficiency Disease

Piebald Trait

Piebaldism

PBT

Partial Albinism

Albinoidism, Oculocutaneous, Autosomal Dominant

Jacobsen Syndrome

Chromosome 11q Deletion Syndrome

Partial 11q Monosomy Syndrome

Jacobsen Distal 11q Deletion Syndrome

JBS

11q Partial Monosomy Syndrome

Chromosome 11q Deletion

11q Deletion

11q Monosomy

Deletion 11q

Monosomy 11q

Partial Monosomy 11q

11q Deletion Disorder

11q Deletion Syndrome

11q Terminal Deletion Disorder

11q- Deletion Syndrome

11q23 Deletion Disorder

Jacobsen Thrombocytopenia

11q Terminal Deletion Syndrome

Del(11)(Q23.3)

Del(11)(Qter)

Distal Deletion 11q

Distal Monosomy 11q

Monosomy 11qter

Telomeric Deletion 11q

Paris-Trousseau Thrombocytopenia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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