TOR1AIP1 - torsin 1A interacting protein 1 Gene

中文名称：torsin 1A 相互作用蛋白 1

种属: Homo sapiens

同用名: LAP1; LAP1B; LAP1C; LGMD2Y

基因 ID: 26092 | 基因类型: protein coding

关于 TOR1AIP1

Cytogenetic location: 1q25.2 Genomic coordinates (GRCh38): 1:179,882,285-179,920,076 (from NCBI)

This gene has 12 transcripts (splice variants), 262 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 27.1), ovary (RPKM 27.0) and 25 other tissues.

功能概要

该基因编码一种结合 A 型和 B 型核纤层蛋白的 2 型整合膜蛋白。编码的蛋白质定位于内核膜，并可能参与在细胞分裂过程中维持核膜与核层的附着。交替剪接导致多个转录本变体。[RefSeq 提供，2016 年 4 月]

This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]

TOR1AIP1 基因产物(2)

mRNA	Protein	Name
NM_001267578.2	NP_001254507.1	torsin-1A-interacting protein 1 isoform 1
NM_015602.4	NP_056417.2	torsin-1A-interacting protein 1 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 ATPase activator activity	IDA IDA: 通过直接分析推断	23569223	GOA
enables ATPase binding	IPI IPI: 通过物理相互作用推断	23569223	GOA
enables cytoskeletal protein binding	IPI IPI: 通过物理相互作用推断	16361107	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	21044950	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in positive regulation of ATP-dependent activity	IDA IDA: 通过直接分析推断	23569223	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nuclear envelope	IDA IDA: 通过直接分析推断	25461922	GOA
located in nucleus	IDA IDA: 通过直接分析推断	24275647	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

TOR1AIP1 蛋白结构

LAP1C

0
100
200
300
400
500
583 a.a.

蛋白主名

其他名称

torsin-1A-interacting protein 1

lamin-associated protein 1B

关联疾病

疾病名称

别名

Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures

Muscular Dystrophy, Limb-Girdle, Type 2y	Lgmd2y
MRRSDC	Muscular Dystrophy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Tor1aip1-Related Limb-Girdle Muscular Dystrophy	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y
Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency	Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency
Lgmd Type 2y	Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine
Tor1aip1-Related Lgmd	Limb-Girdle Muscular Dystrophy 2y

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b	Muscular Dystrophy, Limb-Girdle, Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e	Beta-Sarcoglycanopathy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y	Muscular Dystrophy, Limb-Girdle, Type 3
Lgmd3	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
LGMDR2	Muscular Dystrophy, Limb-Girdle, Type 2s
Limb-Girdle Muscular Dystrophy Type 2b	Lgmd2e
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency	Muscular Dystrophy, Limb-Girdle, Type 2e
Lgmd2s	Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency	Lgmd2y
Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine	Muscular Dystrophy, Limb-Girdle, Type 2y
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Dysferlin-Related Lgmd R2	Lgmd Due To Dysferlin Deficiency
Lgmd Type 2b	Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
Limb-Girdle Muscular Dystrophy 2b	Limb-Girdle Muscular Dystrophy, Type 2b
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2	Dystrophy, Muscular, Limb-Girdle, Type 2b
Limb-Girdle Muscular Dystrophy, Type 2e

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w

Lgmd2w

Muscular Dystrophy, Limb-Girdle, Type 2w

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Lgmd2x

Muscular Dystrophy, Limb-Girdle, Type 2x

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Myopathy, Myofibrillar, 7

Myofibrillar Myopathy 7	MFM7
Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome	Myopathy, Myofibrillar, Type 7

Emery-Dreifuss Muscular Dystrophy

Edmd	Emery-Dreifuss Syndrome
Muscular Dystrophy, Emery-Dreifuss	Humeroperoneal Neuromuscular Disease
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures	Scapuloperoneal Syndrome, X-Linked
Benign Scapuloperoneal Muscular Dystrophy With Early Contractures	Muscular Dystrophy, Emery-Dreifuss Type
Muscular Dystrophy Emery-Dreifuss	Dystrophy, Muscular, Emery-Dreifuss
Emd - [Emery-Dreifuss Muscular Dystrophy]

Myopathy

Muscular Diseases

Myopathies

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

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-RS14904	TOR1AIP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	TOR1AIP1	VGNC	VGNC:66455
Rattus norvegicus	TOR1AIP1	RGD	RGD:628851
Macaca mulatta	TOR1AIP1	VGNC	VGNC:79810
Canis familiaris	TOR1AIP1	VGNC	VGNC:58338
Mus musculus	TOR1AIP1	MGD	MGI:3582693
Bos taurus	TOR1AIP1	VGNC	VGNC:36224

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

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）

TOR1AIP1 - torsin 1A interacting protein 1 Gene

关于 TOR1AIP1

功能概要

TOR1AIP1 基因产物(2)

TOR1AIP1 蛋白结构

关联疾病

直系同源

热门区域

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TOR1AIP1 - torsin 1A interacting protein 1 Gene

关于 TOR1AIP1

功能概要

TOR1AIP1 基因产物(2)

TOR1AIP1 蛋白结构

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