2. Gene
  3. SLMAP - sarcolemma associated protein Gene

SLMAP - sarcolemma associated protein Gene

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

中文名称：肌膜相关蛋白

种属: Homo sapiens

同用名: SLAP

基因 ID: 7871 | 基因类型: protein coding

关于 SLMAP

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:57,756,309-57,930,013 (from NCBI)

This gene has 40 transcripts (splice variants), 209 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in heart (RPKM 29.5), esophagus (RPKM 29.0) and 24 other tissues.

功能概要

该基因编码保守的纹状蛋白相互作用磷酸酶和激酶复合物的一个成分。 Striatin 家族复合物参与多种细胞过程，包括信号传导、细胞周期控制、细胞迁移、高尔基体组装和细胞凋亡。由该基因编码的蛋白质是一种卷曲螺旋、尾部锚定的膜蛋白，具有一个翻译后插入膜的 C 末端跨膜结构域。该基因的突变与 Brugada 综合征 (一种心脏通道病) 有关。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 7 月]

This gene encodes a component of a conserved striatin-interacting Phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including signaling, cell cycle control, cell migration, Golgi assembly, and Apoptosis. The protein encoded by this gene is a coiled-coil, tail-anchored membrane protein with a single C-terminal transmembrane domain that is posttranslationally inserted into membranes. Mutations in this gene are associated with Brugada syndrome, a cardiac channelopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

SLMAP 基因产物(28)

mRNA Protein Name
NM_001304420.3 NP_001291349.1 sarcolemmal membrane-associated protein isoform a
NM_001304421.2 NP_001291350.1 sarcolemmal membrane-associated protein isoform c
NM_001304422.3 NP_001291351.1 sarcolemmal membrane-associated protein isoform d
NM_001304423.3 NP_001291352.1 sarcolemmal membrane-associated protein isoform e
NM_001311178.2 NP_001298107.1 sarcolemmal membrane-associated protein isoform f
NM_001311179.2 NP_001298108.1 sarcolemmal membrane-associated protein isoform g
NM_001377538.1 NP_001364467.1 sarcolemmal membrane-associated protein isoform h
NM_001377539.1 NP_001364468.1 sarcolemmal membrane-associated protein isoform i
NM_001377540.1 NP_001364469.1 sarcolemmal membrane-associated protein isoform j
NM_001377541.1 NP_001364470.1 sarcolemmal membrane-associated protein isoform k
NM_001377542.1 NP_001364471.1 sarcolemmal membrane-associated protein isoform q
NM_001377545.1 NP_001364474.1 sarcolemmal membrane-associated protein isoform l
NM_001377549.1 NP_001364478.1 sarcolemmal membrane-associated protein isoform n
NM_001377551.1 NP_001364480.1 sarcolemmal membrane-associated protein isoform aa
NM_001377552.1 NP_001364481.1 sarcolemmal membrane-associated protein isoform o
NM_001377555.1 NP_001364484.1 sarcolemmal membrane-associated protein isoform p
NM_001377557.1 NP_001364486.1 sarcolemmal membrane-associated protein isoform c
NM_001377559.1 NP_001364488.1 sarcolemmal membrane-associated protein isoform r
NM_001377562.1 NP_001364491.1 sarcolemmal membrane-associated protein isoform bb
NM_001377921.1 NP_001364850.1 sarcolemmal membrane-associated protein isoform s
NM_001377922.1 NP_001364851.1 sarcolemmal membrane-associated protein isoform t
NM_001377923.1 NP_001364852.1 sarcolemmal membrane-associated protein isoform u
NM_001377924.1 NP_001364853.1 sarcolemmal membrane-associated protein isoform v
NM_001377925.1 NP_001364854.1 sarcolemmal membrane-associated protein isoform w
NM_001377926.1 NP_001364855.1 sarcolemmal membrane-associated protein isoform x
NM_001377927.1 NP_001364856.1 sarcolemmal membrane-associated protein isoform y
NM_001377928.1 NP_001364857.1 sarcolemmal membrane-associated protein isoform z
NM_007159.5 NP_009090.2 sarcolemmal membrane-associated protein isoform b
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
23386615 GOA
enables protein-macromolecule adaptor activity IDA
IDA: 通过直接分析推断
29063833 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of hippo signaling IDA
IDA: 通过直接分析推断
29063833 GOA
involved in protein localization to plasma membrane IMP
IMP: 通过突变表型推断
23064965 GOA
involved in regulation of membrane depolarization during cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
23064965 GOA
involved in regulation of sodium ion transmembrane transport IMP
IMP: 通过突变表型推断
23064965 GOA
involved in regulation of voltage-gated sodium channel activity IMP
IMP: 通过突变表型推断
23064965 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of FAR/SIN/STRIPAK complex IDA
IDA: 通过直接分析推断
29063833 GOA
is active in cytoplasm IDA
IDA: 通过直接分析推断
29063833 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

SLMAP 蛋白结构

FHA

FHA: FHA domain (28 - 106)

  • 0
  • 200
  • 400
  • 600
  • 828 a.a.
蛋白主名 其他名称

sarcolemmal membrane-associated protein

SLMAP 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
Intra SLMAP Q14BN4 STK4 Homo sapiens Q13043
Anti Tag CoIP
24255178
Intra SLMAP Q14BN4 STK4 Homo sapiens Q13043
BioID
24255178
Intra SLMAP Q14BN4 STK4 Homo sapiens Q13043
Confocal
24255178
Intra SLMAP Q14BN4 STK4 Homo sapiens Q13043
Y2H
23386615
Intra SLMAP Q14BN4 STK3 Homo sapiens Q13188
Y2H Array
25416956
Intra SLMAP Q14BN4 STK3 Homo sapiens Q13188
Anti Tag CoIP
24255178
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
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]
Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma
Cerebral Cavernous Malformations 3

Cerebral Cavernous Malformation 3

CCM3

Cerebral Cavernous Malformations-3

Cavernous Angiomatous Malformations

Cavernous Hemangioma Of The Brain

Cerebral Capillary Malformations

Cerebral Cavernoma

Familial Cavernous Angioma

Cerebral Cavernous Malformations, Type 3
Cerebral Cavernous Malformations

Cerebral Cavernous Malformation

Cavernous Malformations Of Cns And Retina

Cerebral Cavernous Malformation 1

Cavernous Angiomatous Malformations

Cerebral Capillary Malformations

CCM

Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

Familial Cavernous Angioma

Cavernous Angioma

Familial Cerebral Cavernous Malformation

Cerebral Cavernous Malformations 1

Cavernous Angioma, Familial

Cam

Cerebral Cavernous Malformations-1

Cavernoma

Central Nervous System Cavernous Hemangioma

Cerebral Cavernous Hemangioma

Familial Cavernous Hemangioma

Familial Cavernous Malformation

Familial Cerebral Cavernous Angioma

Intracerebral Cavernous Hemangioma

CCM1

Cavernous Hemangioma Of The Brain

Cerebral Cavernoma

Cerebral Cavernous Malformations, Type 1

Hemangioma, Cavernous, Central Nervous System

Hemangioma, Cavernous

Angioma, Cavernous
Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1
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-RS13380 SLMAP Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus SLMAP MGD MGI:1933549
Canis familiaris SLMAP VGNC VGNC:46513
Macaca mulatta SLMAP VGNC VGNC:77723
Felis catus SLMAP VGNC VGNC:65455
Rattus norvegicus SLMAP RGD RGD:1307674
Bos taurus SLMAP VGNC VGNC:34969
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