2. Gene
  3. OBSL1 - obscurin like cytoskeletal adaptor 1 Gene

OBSL1 - obscurin like cytoskeletal adaptor 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：隐蔽蛋白样细胞骨架适配器 1

种属: Homo sapiens

基因 ID: 23363 | 基因类型: protein coding

关于 OBSL1

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,547,206-219,571,539 (from NCBI)

This gene has 15 transcripts (splice variants), 274 orthologues, 11 paralogues and is associated with 3 phenotypes. Broad expression in ovary (RPKM 37.4), testis (RPKM 15.3) and 19 other tissues.

功能概要

细胞骨架衔接蛋白的功能是将细胞的内部细胞骨架连接到细胞膜。该基因编码细胞骨架衔接蛋白，它是 Unc-89/obscurin 家族的成员。该蛋白质包含多个 N 端和 C 端免疫球蛋白 (Ig) 样结构域和一个中央纤连蛋白 3 型结构域。该基因的突变导致 2 型 3M 综合征。在该基因中发现了编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2010 年 3 月]

Cytoskeletal adaptor proteins function in linking the internal Cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]

OBSL1 基因产物(3)

mRNA Protein Name
NM_001173408.2 NP_001166879.1 obscurin-like protein 1 isoform 3 precursor
NM_001173431.2 NP_001166902.1 obscurin-like protein 1 isoform 2 precursor
NM_015311.3 NP_056126.1 obscurin-like protein 1 isoform 1 precursor
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 protein binding IPI
IPI: 通过物理相互作用推断
20133654 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi organization IMP
IMP: 通过突变表型推断
21572988 GOA
involved in microtubule cytoskeleton organization IMP
IMP: 通过突变表型推断
24793695 GOA
involved in positive regulation of dendrite morphogenesis IMP
IMP: 通过突变表型推断
21572988 GOA
involved in protein localization to Golgi apparatus IMP
IMP: 通过突变表型推断
21572988 GOA
involved in regulation of mitotic nuclear division IMP
IMP: 通过突变表型推断
24793695 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of 3M complex IDA
IDA: 通过直接分析推断
24793695 GOA
located in Golgi apparatus IDA
IDA: 通过直接分析推断
21572988 GOA
located in centrosome IDA
IDA: 通过直接分析推断
24793695 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
24793695 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
21572988 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

OBSL1 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (12 - 101)

I-set

I-set: Immunoglobulin I-set domain (128 - 226)

I-set

I-set: Immunoglobulin I-set domain (252 - 336)

I-set

I-set: Immunoglobulin I-set domain (342 - 418)

I-set

I-set: Immunoglobulin I-set domain (727 - 790)

I-set

I-set: Immunoglobulin I-set domain (822 - 884)

I-set

I-set: Immunoglobulin I-set domain (918 - 981)

Ig_2

Ig_2: Immunoglobulin domain (1007 - 1066)

I-set

I-set: Immunoglobulin I-set domain (1098 - 1156)

I-set

I-set: Immunoglobulin I-set domain (1177 - 1262)

I-set

I-set: Immunoglobulin I-set domain (1279 - 1343)

I-set

I-set: Immunoglobulin I-set domain (1363 - 1438)

I-set

I-set: Immunoglobulin I-set domain (1451 - 1523)

I-set

I-set: Immunoglobulin I-set domain (1631 - 1704)

I-set

I-set: Immunoglobulin I-set domain (1722 - 1792)

I-set

I-set: Immunoglobulin I-set domain (1813 - 1884)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1800
  • 1896 a.a.
蛋白主名 其他名称

obscurin-like protein 1

obscurin like 1

OBSL1 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
OBSL1 O75147 TTN Homo sapiens Q8WZ42
ITC
20489725
种属内
OBSL1 O75147 TTN Homo sapiens Q8WZ42
GMS
20489725
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
Three M Syndrome 2

3m Syndrome 2

3M2

3-M Syndrome 2

3m Syndrome-2

3m Syndrome, Type 2
Three M Syndrome 1

3-M Syndrome

Yakut Short Stature Syndrome

3m Syndrome

Le Merrer Syndrome

Dolichospondylic Dysplasia

Gloomy Face Syndrome

Three M Syndrome

3M1

3m Syndrome 1

Miller-Mckusick-Malvaux Syndrome

3-Msbn

Three-M Slender-Boned Nanism

Miller-Mckusick-Malvaux-Syndrome

3-M Syndrome 1

3m Syndrome-1

3m Syndrome, Type 1

Dwarfism

Dwarfism Tall Vertebrae
Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1
Spina Bifida Occulta
Klippel-Feil Syndrome 1
Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome

SPG17

Silver Spastic Paraplegia Syndrome

Spastic Paraplegia With Amyotrophy Of Hands And Feet

Hereditary Spastic Paraplegia 17

Autosomal Dominant Spastic Paraplegia Type 17

Spastic Paraplegia 17

Spastic Paraplegia-Amyotrophy Of Hands And Feet

Autosomal Dominant Spastic Paraplegia 17

Dhmn5b

Distal Hereditary Motor Neuropathy Type 5b

Paraplegia, Spastic, Autosomal Dominant, Type 17

Russell-Silver Syndrome

Neuronopathy, Distal Hereditary Motor, Type Vb
Mulibrey Nanism

MUL

Muscle-Liver-Brain-Eye Nanism

Pericardial Constriction And Growth Failure

Perheentupa Syndrome

Mulibrey Growth Disorder

Mulibrey Nanism Syndrome

Pericardial Constriction With Growth Failure

Nanism Mulibrey
Tibial Muscular Dystrophy

Tmd

Udd Myopathy

Distal Titinopathy

Finnish Tibial Muscular Dystrophy

Tardive Tibial Muscular Dystrophy

Udd Type Distal Myopathy

Udd Distal Myopathy

Udd-Markesbery Muscular Dystrophy

Distal Myopathy, Udd Type

Distal Myopathies

Tibial Muscular Dystrophy, Tardive
Skin Tag

Fibroepithelial Polyp

Fibroepithelial Polyp Of Skin

Soft Fibroma

Skin Tags

Cutaneous Tag

Gardner Fibroma

Acrochordon

Fibroma Molle
Dubowitz Syndrome

Dubowitz'S Syndrome

Dwarfism-Eczema-Peculiar Facies Syndrome

Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci
Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome
Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09737 OBSL1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus OBSL1 MGD MGI:2138628
Felis catus OBSL1 VGNC VGNC:63944
Macaca mulatta OBSL1 VGNC VGNC:99390
Bos taurus OBSL1 VGNC VGNC:32395
Rattus norvegicus OBSL1 RGD RGD:1306073
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