2. Gene
  3. OBSCN - obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Gene

OBSCN - obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Gene

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

中文名称：obscurin，细胞骨架钙调蛋白和肌动蛋白相互作用的 RhoGEF

种属: Homo sapiens

同用名: UNC89; ARHGEF30

基因 ID: 84033 | 基因类型: protein coding

关于 OBSCN

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:228,208,044-228,378,876 (from NCBI)

This gene has 28 transcripts (splice variants), 246 orthologues and 9 paralogues. Broad expression in heart (RPKM 8.6), prostate (RPKM 2.9) and 15 other tissues.

功能概要

obscurin 基因跨度超过 150 kb，包含超过 80 个外显子并编码大约 720 kDa 的蛋白质。编码的蛋白质包含 68 个 Ig 结构域、2 个纤连蛋白结构域、1 个钙/钙调蛋白结合结构域、1 个具有相关 PH 结构域的 RhoGEF 结构域和 2 个丝氨酸-苏氨酸激酶结构域。这种蛋白质属于巨肌信号蛋白家族，包括肌联蛋白和星云蛋白，可能在肌原纤维组装过程中发挥作用，并可能介导肌浆网和肌原纤维之间的相互作用。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2008 年 7 月]

The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

OBSCN 基因产物(4)

mRNA Protein Name
NM_001098623.2 NP_001092093.2 obscurin isoform b
NM_001271223.3 NP_001258152.2 obscurin isoform IC
NM_001386125.1 NP_001373054.1 obscurin isoform c
NM_052843.4 NP_443075.3 obscurin isoform a
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ankyrin binding IPI
IPI: 通过物理相互作用推断
18782775 GOA
enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
IDA: 通过直接分析推断
28826662 GOA
enables phosphatidylinositol-3,4-bisphosphate binding IDA
IDA: 通过直接分析推断
28826662 GOA
enables phosphatidylinositol-3-phosphate binding IDA
IDA: 通过直接分析推断
28826662 GOA
enables phosphatidylinositol-4,5-bisphosphate binding IDA
IDA: 通过直接分析推断
28826662 GOA
enables phosphatidylinositol-4-phosphate binding IDA
IDA: 通过直接分析推断
28826662 GOA
enables phosphatidylinositol-5-phosphate binding IDA
IDA: 通过直接分析推断
28826662 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11448995 GOA
enables titin binding IPI
IPI: 通过物理相互作用推断
11717165 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

OBSCN 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (10 - 99)

I-set

I-set: Immunoglobulin I-set domain (110 - 201)

I-set

I-set: Immunoglobulin I-set domain (245 - 327)

I-set

I-set: Immunoglobulin I-set domain (335 - 405)

fn3

fn3: Fibronectin type III domain (515 - 599)

I-set

I-set: Immunoglobulin I-set domain (732 - 779)

I-set

I-set: Immunoglobulin I-set domain (808 - 872)

I-set

I-set: Immunoglobulin I-set domain (898 - 964)

I-set

I-set: Immunoglobulin I-set domain (990 - 1057)

I-set

I-set: Immunoglobulin I-set domain (1082 - 1148)

I-set

I-set: Immunoglobulin I-set domain (1174 - 1240)

I-set

I-set: Immunoglobulin I-set domain (1266 - 1332)

I-set

I-set: Immunoglobulin I-set domain (1358 - 1424)

I-set

I-set: Immunoglobulin I-set domain (1450 - 1516)

I-set

I-set: Immunoglobulin I-set domain (1541 - 1609)

I-set

I-set: Immunoglobulin I-set domain (1634 - 1700)

I-set

I-set: Immunoglobulin I-set domain (1726 - 1796)

I-set

I-set: Immunoglobulin I-set domain (1811 - 1894)

I-set

I-set: Immunoglobulin I-set domain (1900 - 1978)

I-set

I-set: Immunoglobulin I-set domain (1990 - 2071)

I-set

I-set: Immunoglobulin I-set domain (2167 - 2250)

I-set

I-set: Immunoglobulin I-set domain (2293 - 2363)

I-set

I-set: Immunoglobulin I-set domain (2471 - 2553)

I-set

I-set: Immunoglobulin I-set domain (2560 - 2626)

I-set

I-set: Immunoglobulin I-set domain (2648 - 2723)

I-set

I-set: Immunoglobulin I-set domain (2738 - 2811)

I-set

I-set: Immunoglobulin I-set domain (2829 - 2908)

I-set

I-set: Immunoglobulin I-set domain (2918 - 2989)

I-set

I-set: Immunoglobulin I-set domain (3007 - 3080)

I-set

I-set: Immunoglobulin I-set domain (3097 - 3170)

I-set

I-set: Immunoglobulin I-set domain (3186 - 3269)

I-set

I-set: Immunoglobulin I-set domain (3275 - 3348)

I-set

I-set: Immunoglobulin I-set domain (3363 - 3442)

I-set

I-set: Immunoglobulin I-set domain (3451 - 3528)

I-set

I-set: Immunoglobulin I-set domain (3539 - 3610)

I-set

I-set: Immunoglobulin I-set domain (3627 - 3698)

I-set

I-set: Immunoglobulin I-set domain (3715 - 3794)

I-set

I-set: Immunoglobulin I-set domain (3803 - 3882)

I-set

I-set: Immunoglobulin I-set domain (3890 - 3973)

I-set

I-set: Immunoglobulin I-set domain (3980 - 4051)

I-set

I-set: Immunoglobulin I-set domain (4068 - 4143)

I-set

I-set: Immunoglobulin I-set domain (4161 - 4242)

I-set

I-set: Immunoglobulin I-set domain (4252 - 4336)

fn3

fn3: Fibronectin type III domain (4524 - 4606)

I-set

I-set: Immunoglobulin I-set domain (4630 - 4696)

IQ

IQ: IQ calmodulin-binding motif (4874 - 4893)

I-set

I-set: Immunoglobulin I-set domain (4898 - 4988)

I-set

I-set: Immunoglobulin I-set domain (5126 - 5216)

I-set

I-set: Immunoglobulin I-set domain (5260 - 5350)

I-set

I-set: Immunoglobulin I-set domain (5372 - 5466)

RhoGEF

RhoGEF: RhoGEF domain (5697 - 5872)

I-set

I-set: Immunoglobulin I-set domain (6014 - 6097)

I-set

I-set: Immunoglobulin I-set domain (6108 - 6199)

I-set

I-set: Immunoglobulin I-set domain (6357 - 6446)

Pkinase

Pkinase: Protein kinase domain (6468 - 6721)

I-set

I-set: Immunoglobulin I-set domain (7463 - 7548)

Pkinase

Pkinase: Protein kinase domain (7674 - 7924)

  • 0
  • 1300
  • 2600
  • 3900
  • 5200
  • 6500
  • 7800
  • 7968 a.a.
蛋白主名 其他名称

obscurin

obscurin, myosin light chain kinase

OBSCN 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
OBSCN Q5VST9 TTN Homo sapiens Q8WZ42
GMS
20489725
种属内
OBSCN Q5VST9 TTN Homo sapiens Q8WZ42
Y2H Fragment Pooling
23414517
种属内
OBSCN Q5VST9 TTN Homo sapiens Q8WZ42
Y2H
11448995
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
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
Mitochondrial Dna Depletion Syndrome 12b
Fibromuscular Dysplasia
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
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j

Lgmd2j

Muscular Dystrophy, Limb-Girdle, Type 2j
Lethal Congenital Contracture Syndrome 4

LCCS4

Contracture Syndrome, Lethal, Congenital, Type 4
Myopathy, Myofibrillar, 9, With Early Respiratory Failure

Hereditary Myopathy With Early Respiratory Failure

Hmerf

Myopathy, Proximal, With Early Respiratory Muscle Involvement

Edstrom Myopathy

Mfm-Titinopathy

MFM9

Mprm

Hereditary Inclusion Body Myopathy With Early Respiratory Failure

Hibm-Erf

Myofibrillar Myopathy-Titinopathy

Myofibrillar Myopathy With Early Respiratory Failure

Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant

Myofibrillar Myopathy 9

Myofibrillar Myopathy 9 With Early Respiratory Failure

Autosomal Dominant Distal Myopathy With Early Respiratory Failure

Proximal Myopathy With Early Respiratory Muscle Involvement

Hereditary Proximal Myopathy With Early Respiratory Failure

Admerf

Edström Myopathy

Hmerf-Erf
Ciliary Dyskinesia, Primary, 5

Primary Ciliary Dyskinesia 5

CILD5

Ciliary Dyskinesia, Primary, 5, Without Situs Inversus

Primary Ciliary Dyskinesia 5 Without Situs Inversus

Ics5

Immotile Cilia Syndrome 5

Primary Ciliary Dyskinesia 5 With Or Without Situs Inversus

Dyskinesia, Ciliary, Primary, Type 5
Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy
Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]
Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]
Moyamoya Disease 1

Moyamoya Disease

Spontaneous Occlusion Of The Circle Of Willis

Mymy

Progressive Intracranial Arterial Occlusion

Moyamoya Syndrome

MYMY1

Cerebrovascular Moyamoya Disease

Moya-Moya Disease

Progressive Intracranial Occlusive Arteropathy

Idiopathic Moyamoya Disease
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis
Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy
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-RS09736 OBSCN Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris OBSCN VGNC VGNC:49693
Rattus norvegicus OBSCN RGD RGD:631335
Mus musculus OBSCN MGD MGI:2681862
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