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

BLOC1S6 - biogenesis of lysosomal organelles complex 1 subunit 6 Gene

中文名称:溶酶体细胞器复合物 1 亚基 6 的生物发生

种属: Homo sapiens

同用名: PA; HPS9; PLDN; BLOS6; PALLID

基因 ID: 26258 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质可能在细胞内囊泡运输中发挥作用。它与介导细胞内膜融合的 Syntaxin 13 相互作用。该基因的突变会导致与 Hermansky-Pudlak 综合征 9 相关的症状。可变剪接导致多个转录本变体。与该基因相关的假基因位于 X 染色体上。[RefSeq 提供,2015 年 8 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables actin filament binding IDA
IDA: 通过直接分析推断
12019270 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
15102850 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12191018 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
12019270 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
12019270 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endosome to melanosome transport IDA
IDA: 通过直接分析推断
17182842 GOA
involved in melanosome transport IDA
IDA: 通过直接分析推断
17182842 GOA
involved in positive regulation of pigment cell differentiation IDA
IDA: 通过直接分析推断
17182842 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of BLOC-1 complex IDA
IDA: 通过直接分析推断
12019270 GOA
part of BLOC-1 complex IPI
IPI: 通过物理相互作用推断
22203680 GOA
part of SNARE complex IDA
IDA: 通过直接分析推断
19546860 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
12019270 GOA
located in membrane-bounded organelle IDA
IDA: 通过直接分析推断
12019270 GOA
located in transport vesicle IDA
IDA: 通过直接分析推断
17182842 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

BLOC1S6 蛋白结构

Snapin_Pallidin

Snapin_Pallidin: Snapin/Pallidin (49 - 141)

  • 0
  • 100
  • 172 a.a.
蛋白主名 其他名称

biogenesis of lysosome-related organelles complex 1 subunit 6

BLOC-1 subunit 6

BLOC1S6 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
BLOC1S6 Q9UL45 CCDC136 Homo sapiens Q96JN2-2 25416956
种属内
BLOC1S6 Q9UL45 CCDC136 Homo sapiens Q96JN2-2 25416956
种属内
BLOC1S6 Q9UL45 KRT13 Homo sapiens A1A4E9 25416956
种属内
BLOC1S6 Q9UL45 CCHCR1 Homo sapiens Q8TD31-3 25416956
种属内
BLOC1S6 Q9UL45 TPM3 Homo sapiens Q5VU62 25416956
种属内
BLOC1S6 Q9UL45 CORO6 Homo sapiens Q6QEF8 25416956
种属内
BLOC1S6 Q9UL45 CDK5R1 Homo sapiens Q8N619 25416956
种属内
BLOC1S6 Q9UL45 CDK5R1 Homo sapiens Q8N619 25416956
种属内
BLOC1S6 Q9UL45 SYCE3 Homo sapiens A1L190 25416956
种属内
BLOC1S6 Q9UL45 SYCE3 Homo sapiens A1L190 25416956
种属内
BLOC1S6 Q9UL45 ABI2 Homo sapiens Q9NYB9-2 32296183
种属内
BLOC1S6 Q9UL45 ABI2 Homo sapiens Q9NYB9-2 32296183
种属内
BLOC1S6 Q9UL45 KRT72 Homo sapiens Q14CN4 32296183
种属内
BLOC1S6 Q9UL45 KRT72 Homo sapiens Q14CN4 32296183
种属内
BLOC1S6 Q9UL45 RABGEF1 Homo sapiens Q9UJ41-4 32296183
种属内
BLOC1S6 Q9UL45 RABGEF1 Homo sapiens Q9UJ41-4 32296183
种属内
BLOC1S6 Q9UL45 HAUS1 Homo sapiens Q96CS2 25416956
种属内
BLOC1S6 Q9UL45 HAUS1 Homo sapiens Q96CS2 25416956
种属内
BLOC1S6 Q9UL45 NUP62 Homo sapiens P37198 32296183
种属内
BLOC1S6 Q9UL45 NUP62 Homo sapiens P37198 32296183
种属内
BLOC1S6 Q9UL45 BLOC1S1 Homo sapiens P78537 32296183
种属内
BLOC1S6 Q9UL45 BLOC1S1 Homo sapiens P78537 22203680
种属内
BLOC1S6 Q9UL45 BLOC1S1 Homo sapiens P78537 33961781
种属内
BLOC1S6 Q9UL45 BLOC1S1 Homo sapiens P78537 15102850
种属内
BLOC1S6 Q9UL45 BLOC1S1 Homo sapiens P78537
Y2H
15102850
种属内
BLOC1S6 Q9UL45 BLOC1S1 Homo sapiens P78537 32296183
种属内
BLOC1S6 Q9UL45 MED21 Homo sapiens Q13503 25416956
种属内
BLOC1S6 Q9UL45 SMN1 Homo sapiens Q16637 32296183
种属内
BLOC1S6 Q9UL45 SMN1 Homo sapiens Q16637 25416956
种属内
BLOC1S6 Q9UL45 SMN1 Homo sapiens Q16637 25416956
种属内
BLOC1S6 Q9UL45 SMN1 Homo sapiens Q16637 32296183
种属内
BLOC1S6 Q9UL45 INSYN1 Homo sapiens Q2T9L4 32296183
种属内
BLOC1S6 Q9UL45 INSYN1 Homo sapiens Q2T9L4 32296183
种属内
BLOC1S6 Q9UL45 INSYN1 Homo sapiens Q2T9L4 32296183
种属内
BLOC1S6 Q9UL45 SKA1 Homo sapiens Q96BD8 16189514
种属内
BLOC1S6 Q9UL45 SKA1 Homo sapiens Q96BD8 31515488
种属内
BLOC1S6 Q9UL45 SKA1 Homo sapiens Q96BD8 25416956
种属内
BLOC1S6 Q9UL45 SKA1 Homo sapiens Q96BD8 32296183
种属内
BLOC1S6 Q9UL45 SKA1 Homo sapiens Q96BD8 25416956
种属内
BLOC1S6 Q9UL45 DTNBP1 Homo sapiens Q96EV8 32296183
种属内
BLOC1S6 Q9UL45 DTNBP1 Homo sapiens Q96EV8
Y2H
15102850
种属内
BLOC1S6 Q9UL45 DTNBP1 Homo sapiens Q96EV8 33961781
种属内
BLOC1S6 Q9UL45 DTNBP1 Homo sapiens Q96EV8 15102850
种属内
BLOC1S6 Q9UL45 DTNBP1 Homo sapiens Q96EV8 32296183
种属内
BLOC1S6 Q9UL45 DTNBP1 Homo sapiens Q96EV8 22203680
种属内
BLOC1S6 Q9UL45 BLOC1S4 Homo sapiens Q9NUP1
Y2H
15102850
种属内
BLOC1S6 Q9UL45 BLOC1S4 Homo sapiens Q9NUP1 22203680
种属内
BLOC1S6 Q9UL45 BLOC1S4 Homo sapiens Q9NUP1 33961781
种属内
BLOC1S6 Q9UL45 C4orf46 Homo sapiens Q504U0 32296183
种属内
BLOC1S6 Q9UL45 C4orf46 Homo sapiens Q504U0 32296183
种属内
BLOC1S6 Q9UL45 MLPH Homo sapiens Q9BV36 32296183
种属内
BLOC1S6 Q9UL45 MLPH Homo sapiens Q9BV36 32296183
种属内
BLOC1S6 Q9UL45 STX1A Homo sapiens Q16623 32296183
种属内
BLOC1S6 Q9UL45 STX1A Homo sapiens Q16623 32296183
种属内
BLOC1S6 Q9UL45 WASHC3 Homo sapiens Q9Y3C0 32296183
种属内
BLOC1S6 Q9UL45 WASHC3 Homo sapiens Q9Y3C0 16189514
种属内
BLOC1S6 Q9UL45 WASHC3 Homo sapiens Q9Y3C0 33961781
种属内
BLOC1S6 Q9UL45 WASHC3 Homo sapiens Q9Y3C0 31515488
种属内
BLOC1S6 Q9UL45 WASHC3 Homo sapiens Q9Y3C0 32296183
种属内
BLOC1S6 Q9UL45 WASHC3 Homo sapiens Q9Y3C0 32296183
种属内
BLOC1S6 Q9UL45 STX11 Homo sapiens O75558 25416956
种属内
BLOC1S6 Q9UL45 DCTN2 Homo sapiens Q13561 25416956
种属内
BLOC1S6 Q9UL45 RINT1 Homo sapiens Q6NUQ1 32296183
种属内
BLOC1S6 Q9UL45 RINT1 Homo sapiens Q6NUQ1 32296183
种属内
BLOC1S6 Q9UL45 SKA1 Homo sapiens Q96BD8 32296183
种属内
BLOC1S6 Q9UL45 SKA1 Homo sapiens Q96BD8 33961781
种属内
BLOC1S6 Q9UL45 EXOC8 Homo sapiens Q8IYI6 16189514
种属内
BLOC1S6 Q9UL45 PLEKHF2 Homo sapiens Q9H8W4 16189514
种属内
BLOC1S6 Q9UL45 PLEKHF2 Homo sapiens Q9H8W4 32296183
种属内
BLOC1S6 Q9UL45 PLEKHF2 Homo sapiens Q9H8W4 32296183
种属内
BLOC1S6 Q9UL45 ABI2 Homo sapiens Q9NYB9 25416956
种属内
BLOC1S6 Q9UL45 ABI2 Homo sapiens Q9NYB9 25416956
种属内
BLOC1S6 Q9UL45 ABI2 Homo sapiens Q9NYB9 25416956
种属内
BLOC1S6 Q9UL45 ABI2 Homo sapiens Q9NYB9 29892012
种属内
BLOC1S6 Q9UL45 CEP44 Homo sapiens Q9C0F1 33961781
种属内
BLOC1S6 Q9UL45 CEP44 Homo sapiens Q9C0F1 32296183
种属内
BLOC1S6 Q9UL45 CEP44 Homo sapiens Q9C0F1 32296183
种属内
BLOC1S6 Q9UL45 AGGF1 Homo sapiens Q8N302 33961781
种属内
BLOC1S6 Q9UL45 AGGF1 Homo sapiens Q8N302 16189514
种属内
BLOC1S6 Q9UL45 IFT20 Homo sapiens Q8IY31-3 32296183
种属内
BLOC1S6 Q9UL45 IFT20 Homo sapiens Q8IY31-3 32296183
种属内
BLOC1S6 Q9UL45 RABGEF1 Homo sapiens Q9UJ41 25416956
种属内
BLOC1S6 Q9UL45 RABGEF1 Homo sapiens Q9UJ41 25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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