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

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

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