BLOC1S2 - biogenesis of lysosomal organelles complex 1 subunit 2 Gene

中文名称：溶酶体细胞器复合物 1 亚基 2 的生物发生

种属: Homo sapiens

同用名: CEAP; BLOS2; BORCS2; CEAP11

基因 ID: 282991 | 基因类型: protein coding

关于 BLOC1S2

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:100,273,278-100,286,680 (from NCBI)

This gene has 6 transcripts (splice variants), 229 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 15.8), brain (RPKM 15.6) and 25 other tissues.

功能概要

该基因编码一种具有多种功能的蛋白质。已发现编码的蛋白质与中心体相关，显示与γ-微管蛋白共定位，并且还发现它是 BLOC-1 复合物中的一种蛋白质，它在溶酶体相关细胞器的形成中发挥作用。该基因的假基因位于 X 染色体上。可变剪接导致多个转录本变体。[RefSeq 提供，2012 年 2 月]

This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

BLOC1S2 基因产物(6)

mRNA	Protein	Name
NM_001001342.2	NP_001001342.1	biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2
NM_001282436.2	NP_001269365.1	biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 3
NM_001282437.2	NP_001269366.1	biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2
NM_001282438.1	NP_001269367.1	biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2
NM_001282439.2	NP_001269368.1	biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 4
NM_173809.5	NP_776170.2	biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 1

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 gamma-tubulin binding	IDA IDA: 通过直接分析推断	15381421	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15102850	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in extrinsic apoptotic signaling pathway via death domain receptors	IDA IDA: 通过直接分析推断	18188704	GOA
involved in lysosome localization	IMP IMP: 通过突变表型推断	25898167	GOA
involved in mitochondrial outer membrane permeabilization	IDA IDA: 通过直接分析推断	18188704	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	18329849	GOA
involved in positive regulation of cell population proliferation	IDA IDA: 通过直接分析推断	15381421	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	15102850	GOA
part of BLOC-1 complex	IPI IPI: 通过物理相互作用推断	22203680	GOA
part of BORC complex	IDA IDA: 通过直接分析推断	25898167	GOA
part of BORC complex	IPI IPI: 通过物理相互作用推断	25898167	GOA
located in centrosome	IDA IDA: 通过直接分析推断	15381421	GOA
part of gamma-tubulin complex	IDA IDA: 通过直接分析推断	15381421	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	18188704	GOA
located in nucleus	IDA IDA: 通过直接分析推断	18329849	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

BLOC1S2 蛋白结构

BLOC1_2

0
100
142 a.a.

蛋白主名

其他名称

biogenesis of lysosome-related organelles complex 1 subunit 2

11 kDa centrosome associated protein

BLOC1S2 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	BLOC1S2	Q6QNY1	FAM9B	Homo sapiens	Q8IZU0	Validated Y2H	25416956
种属内	BLOC1S2	Q6QNY1	FAM9B	Homo sapiens	Q8IZU0	Y2H Prey Pooling	25416956
种属内	BLOC1S2	Q6QNY1	CCHCR1	Homo sapiens	Q8TD31-3	Validated Y2H	32296183
种属内	BLOC1S2	Q6QNY1	P4HA3	Homo sapiens	Q7Z4N8	Validated Y2H	32296183
种属内	BLOC1S2	Q6QNY1	CCDC146	Homo sapiens	Q8IYE0	Validated Y2H	32296183
种属内	BLOC1S2	Q6QNY1	TRIML2	Homo sapiens	Q8N7C3	Validated Y2H	32296183
种属内	BLOC1S2	Q6QNY1	CTNNA3	Homo sapiens	Q9UI47-2	Validated Y2H	32296183
种属内	BLOC1S2	Q6QNY1	KRT26	Homo sapiens	Q7Z3Y9	Validated Y2H	32296183
种属内	BLOC1S2	Q6QNY1	SNAPIN	Homo sapiens	O95295	Anti Bait CoIP	15102850
种属内	BLOC1S2	Q6QNY1	SNAPIN	Homo sapiens	O95295	Y2H Fragment Pooling	23414517
种属内	BLOC1S2	Q6QNY1	SNAPIN	Homo sapiens	O95295	Pull Down	22203680
种属内	BLOC1S2	Q6QNY1	SNAPIN	Homo sapiens	O95295	Y2H	15102850
种属内	BLOC1S2	Q6QNY1	SNAPIN	Homo sapiens	O95295	GMS	22203680
种属内	BLOC1S2	Q6QNY1	BLOC1S1	Homo sapiens	P78537	Anti Bait CoIP	15102850
种属内	BLOC1S2	Q6QNY1	BLOC1S5	Homo sapiens	Q8TDH9	Anti Bait CoIP	15102850
种属内	BLOC1S2	Q6QNY1	BLOC1S5	Homo sapiens	Q8TDH9	Y2H	15102850
种属内	BLOC1S2	Q6QNY1	BLOC1S3	Homo sapiens	Q6QNY0	Y2H	15102850
种属内	BLOC1S2	Q6QNY1	BLOC1S3	Homo sapiens	Q6QNY0	Anti Bait CoIP	15102850
种属内	BLOC1S2	Q6QNY1	WASHC3	Homo sapiens	Q9Y3C0	Validated Y2H	32296183
种属内	BLOC1S2	Q6QNY1	FAM161B	Homo sapiens	Q96MY7	Validated Y2H	32296183
种属内	BLOC1S2	Q6QNY1	IFT57	Homo sapiens	Q9NWB7	Anti Tag CoIP	18188704
种属内	BLOC1S2	Q6QNY1	EXOC8	Homo sapiens	Q8IYI6	Validated Y2H	32296183
种属内	BLOC1S2	Q6QNY1	SH2D4A	Homo sapiens	Q9H788	Validated Y2H	32296183
种属内	BLOC1S2	Q6QNY1	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183
种属内	BLOC1S2	Q6QNY1	ERP27	Homo sapiens	Q96DN0	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 BLOC1S2 蛋白

目录号	产品名	蛋白编号	纯度
HY-P76171	BLOC1S2 Protein, Human	Q6QNY1-2 (M1-R99)	≥95%

关联疾病

疾病名称

别名

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

Schizophrenia 1

SCZD1	Schizophrenia Susceptibility Locus, Chromosome 5-Related
Schizophrenia 1 With Or Without An Affective Disorder

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01524	BLOC1S2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	BLOC1S2	RGD	RGD:1306551
Canis familiaris	BLOC1S2	VGNC	VGNC:38467
Bos taurus	BLOC1S2	VGNC	VGNC:26507
Macaca mulatta	BLOC1S2	VGNC	VGNC:70357
Mus musculus	BLOC1S2	MGD	MGI:1920939
Others	BLOC1S2	NCBI

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

BLOC1S2 - biogenesis of lysosomal organelles complex 1 subunit 2 Gene

关于 BLOC1S2

功能概要

BLOC1S2 基因产物(6)

BLOC1S2 蛋白结构

BLOC1S2 蛋白互作信息

重组 BLOC1S2 蛋白

关联疾病

直系同源

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BLOC1S2 - biogenesis of lysosomal organelles complex 1 subunit 2 Gene

关于 BLOC1S2

功能概要

BLOC1S2 基因产物(6)

BLOC1S2 蛋白结构

BLOC1S2 蛋白互作信息

重组 BLOC1S2 蛋白

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z