BLOC1S6 - biogenesis of lysosomal organelles complex 1 subunit 6 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26258

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
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
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 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
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
Others BLOC1S6 NCBI