2. Gene
  3. ASPSCR1 - ASPSCR1 tether for SLC2A4, UBX domain containing Gene

ASPSCR1 - ASPSCR1 tether for SLC2A4, UBX domain containing Gene

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

中文名称：含 SLC2A4 的 ASPSCR1 系链， UBX 域

种属: Homo sapiens

同用名: TUG; ASPL; ASPS; RCC17; UBXD9; UBXN9; ASPCR1

基因 ID: 79058 | 基因类型: protein coding

关于 ASPSCR1

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,977,629-82,017,406 (from NCBI)

This gene has 21 transcripts (splice variants), 200 orthologues, 1 paralogue and is associated with 83 phenotypes. Ubiquitous expression in placenta (RPKM 4.3), testis (RPKM 4.3) and 25 other tissues.

功能概要

该基因编码的蛋白质包含一个 UBX 结构域，并与 4 型葡萄糖转运蛋白 (GLUT4) 相互作用。这种蛋白质是一种系链，在没有胰岛素的情况下将 GLUT4 隔离在肌肉和脂肪细胞的细胞内囊泡中，并在胰岛素刺激后的几分钟内将 GLUT4 重新分配到质膜。该基因与转录因子 TFE3 基因的易位 t (X;17) (p11;q25) 在肺泡软部肉瘤和肾细胞癌中产生 ASPSCR1-TFE3 融合蛋白。已发现多个选择性剪接的转录本变体。[RefSeq 提供，2011 年 10 月]

The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of Insulin, and redistributes the GLUT4 to the plasma membrane within minutes of Insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]

ASPSCR1 基因产物(3)

mRNA Protein Name
NM_001251888.2 NP_001238817.1 tether containing UBX domain for GLUT4 isoform 2
NM_001330528.2 NP_001317457.1 tether containing UBX domain for GLUT4 isoform 3
NM_024083.4 NP_076988.1 tether containing UBX domain for GLUT4 isoform 1
基因本体论
  • 分子功能
  • 生物过程
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
18775313 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of protein modification process IMP
IMP: 通过突变表型推断
23349634 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

ASPSCR1 蛋白结构

TUG-UBL1

TUG-UBL1: TUG ubiquitin-like domain (14 - 78)

UBX

UBX: UBX domain (387 - 460)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 553 a.a.
蛋白主名 其他名称

tether containing UBX domain for GLUT4

ASPSCR1, UBX domain containing tether for SLC2A4

ASPSCR1 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 ASPSCR1 Q9BZE9 KRTAP10-8 Homo sapiens P60410
Validated Y2H
25416956
Intra ASPSCR1 Q9BZE9 KRTAP10-8 Homo sapiens P60410
Y2H Array
25416956
Intra ASPSCR1 Q9BZE9 ADAMTSL4 Homo sapiens Q6UY14-3
Y2H Prey Pooling
25416956
Intra ASPSCR1 Q9BZE9 ADAMTSL4 Homo sapiens Q6UY14-3
Y2H Array
25416956
Intra ASPSCR1 Q9BZE9 KRTAP1-1 Homo sapiens Q07627
Y2H Array
32296183
Intra ASPSCR1 Q9BZE9 KRTAP1-1 Homo sapiens Q07627
Y2H Prey Pooling
32296183
Intra ASPSCR1 Q9BZE9 TACC3 Homo sapiens Q9Y6A5
Y2H Prey Pooling
25416956
Intra ASPSCR1 Q9BZE9 VCP Homo sapiens P55072
Lumier
29997244
Intra ASPSCR1 Q9BZE9 VCP Homo sapiens P55072
Y2H Prey Pooling
25416956
Intra ASPSCR1 Q9BZE9 VCP Homo sapiens P55072
Validated Y2H
32814053
Intra ASPSCR1 Q9BZE9 VCP Homo sapiens P55072
Y2H Prey Pooling
32296183
Intra ASPSCR1 Q9BZE9 VCP Homo sapiens P55072
Y2H Array
32814053
Intra ASPSCR1 Q9BZE9 VCP Homo sapiens P55072
Anti Tag CoIP
18775313
Intra ASPSCR1 Q9BZE9 VCP Homo sapiens P55072
Y2H Pooling
32814053
Intra ASPSCR1 Q9BZE9 VCP Homo sapiens P55072
Y2H Array
32296183
Intra ASPSCR1 Q9BZE9 VCP Homo sapiens P55072
BRET
29997244
Intra ASPSCR1 Q9BZE9 TCF4 Homo sapiens P15884
Y2H Prey Pooling
25416956
Intra ASPSCR1 Q9BZE9 INCA1 Homo sapiens Q0VD86
Y2H Array
32296183
Intra ASPSCR1 Q9BZE9 INCA1 Homo sapiens Q0VD86
Y2H Prey Pooling
32296183
Intra ASPSCR1 Q9BZE9 CLK2 Homo sapiens P49760
Y2H Prey Pooling
32296183
Intra ASPSCR1 Q9BZE9 CLK2 Homo sapiens P49760
Y2H Array
32296183
Intra ASPSCR1 Q9BZE9 NOTCH2NLA Homo sapiens Q7Z3S9
Y2H Prey Pooling
25416956
Intra ASPSCR1 Q9BZE9 NOTCH2NLA Homo sapiens Q7Z3S9
Validated Y2H
25416956
Intra ASPSCR1 Q9BZE9 KRT31 Homo sapiens Q15323
Validated Y2H
25416956
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
Alveolar Soft Part Sarcoma

ASPS

Alveolar Soft-Part Sarcoma

Sarcoma, Alveolar Soft Part

Alveolar Soft Tissue Sarcoma

Sarcoma Alveolar Soft Part

Adult Alveolar Soft-Part Sarcoma

Childhood Alveolar Soft-Part Sarcoma
Renal Cell Carcinoma, Xp11-Associated

RCCX1

Mit Family Translocation Renal Cell Carcinoma

Renal Cell Carcinoma, Papillary, 1

Carcinoma Associated With Mitf/Tfe Translocation

Translocation Renal Cell Carcinoma

Renal Cell Carcinoma Xp11-Associated

Renal Cell Carcinoma Papillary 1

Carcinoma, Renal Cell, Xp11-Associated
Sarcoma

Connective And Soft Tissue Neoplasm

Tumor Of Soft Tissue And Skeleton

Sarcomas

Sarcoma - Category
Childhood Kidney Cell Carcinoma

Pediatric Renal Cell Carcinoma

Childhood Renal Cell Carcinoma
Perivascular Epithelioid Cell Tumor

Pecoma

Perivascular Epithelioid Cell Neoplasms

Neoplasm With Perivascular Epithelioid Cell Differentiation
Skeletal Muscle Cancer

Malignant Tumor Of Skeletal Muscle

Skeletal Muscle Neoplasm
Perivascular Tumor

Malignant Perivascular Cancer
Muscle Cancer

Myosarcoma

Malignant Neoplasm Of Muscle

Malignant Tumor Of Muscle

Malignant Tumor Of The Muscle

Muscle Neoplasms

Myomatous Neoplasm
Myoblastoma

Benign Granular Cell Tumor
Epithelioid Type Angiomyolipoma

Epithelioid Angiomyolipoma
Collecting Duct Carcinoma

Kidney Medullary Carcinoma

Renal Medullary Carcinoma

Bdc

Bellini Carcinoma

Bellini Duct Carcinoma

Cdc

Collecting Duct Carcinoma Of The Kidney

Renal Cell Adenocarcinoma

Carcinoma Of Renal Collecting Duct

Renal Carcinoma, Collecting Duct Type

Renal Cell Carcinoma

Bellini'S Duct Carcinoma

Renal Collecting Duct Carcinoma

Adenocarcinoma Of Kidney
Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma

Hereditary Papillary Renal Cell Carcinoma

Papillary Renal Cell Carcinoma, Sporadic

Papillary Renal Cell Adenocarcinoma

RCCP

RCCP1

Renal Cell Carcinoma, Papillary

Renal Cell Carcinoma, Papillary, 1, Familial And Somatic

Chromophil Carcinoma Of Kidney

Papillary Kidney Carcinoma

Sporadic Papillary Renal Cell Carcinoma

Chromophil Renal Cell Carcinoma

Papillary Renal Carcinoma, Malignant -

Papillary Renal Cell Carcinoma, Bilateral -

Papillary Renal Cell Carcinoma, Familial -

Papillary Renal Cell Carcinoma, Multiple -

Papillary Renal Cell Carcinoma, Sporadic -

Renal Adenocarcinoma

Chromophil Rcc

Hprcc

Renal Cell Carcinoma Papillary

Chromophilic Renal Cell Carcinoma

Prcc

Carcinoma, Renal Cell, Papillary, Type 1

Type 1 Papillary Renal Cell Carcinoma

Renal Cell Carcinoma

Hereditary Papillary Renal Carcinoma
Vascular Cancer

Blood Vessel Tumors

Malignant Vascular Neoplasm

Renal Vein Leiomyosarcoma

Vascular Neoplasms

Blood Vessel Neoplasm

Blood Vessel Tumor

Blood Vessel Tumour Disorder

Haemangiomatous Tumour

Leiomyosarcoma Of The Renal Vein

Malignant Great Vessel Tumor

Malignant Tumor Of Pulmonary Artery

Malignant Tumor Of Pulmonary Vein

Malignant Vascular Tumor

Neoplasm Of Great Vessel

Pulmonary Artery Malignant Neoplasm

Pulmonary Vein Malignant Neoplasm

Vascular Tissue Neoplasm

Vascular Tumors

Blood Vessel Cancer

Neoplasms, Vascular Tissue

Malignant Neoplasm Of Great Vessels
Myxoid Liposarcoma

Myxoid/Round Cell Liposarcoma

Liposarcoma, Myxoid

Mrcls

Myxoliposarcoma

MXLIPO

Liposarcoma Myxoid

Liposarcoma
Rhabdomyosarcoma 2

Alveolar Rhabdomyosarcoma

Rhabdomyosarcoma, Alveolar

Rhabdomyosarcoma Alveolar

RMS2

Rmsa

Rhabdomyosarcoma 2, Alveolar

Alveolar Childhood Rhabdomyosarcoma

Arms

Rhabdomyosarcoma, Type 2
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

Multisystem Proteinopathy

Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia
Chromophobe Renal Cell Carcinoma

Chromophobe Adenocarcinoma

Chromophobe Carcinoma Of Kidney

Kidney Chromophobe

Renal Cell Carcinoma, Chromophobe Cell

Crcc

Chrcc

Chromophobe Renal Cell Adenocarcinoma

Chromophobe Renal Carcinoma

Chromophobe Carcinoma
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-RS01107 ASPSCR1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris ASPSCR1 VGNC VGNC:38191
Felis catus ASPSCR1 VGNC VGNC:98763
Bos taurus ASPSCR1 VGNC VGNC:97242
Macaca mulatta ASPSCR1 VGNC VGNC:84873
Mus musculus ASPSCR1 MGD MGI:1916188
Rattus norvegicus ASPSCR1 RGD RGD:1588666
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