1. Gene
  2. STBD1 - starch binding domain 1 Gene

STBD1 - starch binding domain 1 Gene

中文名称:淀粉结合域 1

种属: Homo sapiens

同用名: GENEX3414; GENX-3414

基因 ID: 8987 | 基因类型: protein coding

关于 STBD1

Cytogenetic location: 4q21.1 Genomic coordinates (GRCh38): 4:76,306,733-76,311,130 (from NCBI)

This gene has 1 transcript (splice variant) and 174 orthologues. Broad expression in fat (RPKM 72.0), liver (RPKM 33.4) and 18 other tissues.

功能概要

启用酶结合活性和糖原结合活性。参与糖噬和细胞内转运。位于 T 管;内质网;和细胞质的核周区。是质膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables Enzyme binding activity and glycogen binding activity. Involved in glycophagy and intracellular transport. Located in T-tubule; endoplasmic reticulum; and perinuclear region of cytoplasm. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

STBD1 基因产物(1)

mRNA Protein Name
NM_003943.5 NP_003934.1 starch-binding domain-containing protein 1
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 enzyme binding IPI
IPI: 通过物理相互作用推断
24837458 GOA
enables glycogen binding IDA
IDA: 通过直接分析推断
20810658 GOA
enables polysaccharide binding IDA
IDA: 通过直接分析推断
24837458 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20562859 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glycogen catabolic process IMP
IMP: 通过突变表型推断
20810658 GOA
involved in glycophagy IMP
IMP: 通过突变表型推断
20810658 GOA
involved in intracellular transport IGI
IGI: 通过遗传相互作用推断
27358407 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in T-tubule IDA
IDA: 通过直接分析推断
9794794 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
9794794 GOA
located in membrane IDA
IDA: 通过直接分析推断
20810658 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
20810658 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
9794794 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

STBD1 蛋白结构

CBM_20

CBM_20: Starch binding domain (263 - 350)

  • 0
  • 100
  • 200
  • 300
  • 358 a.a.
蛋白主名 其他名称

starch-binding domain-containing protein 1

genethonin 1

STBD1 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 STBD1 O95210 MAP1LC3B Homo sapiens Q9GZQ8
Pull Down
20562859
Intra STBD1 O95210 GABARAP Homo sapiens O95166
Pull Down
20562859
Intra STBD1 O95210 GABARAP Homo sapiens O95166
Anti Tag CoIP
33961781
Intra STBD1 O95210 GABARAP Homo sapiens O95166
Anti Tag CoIP
28514442
Intra STBD1 O95210 GABARAPL2 Homo sapiens P60520
Pull Down
20562859
Intra STBD1 O95210 GABARAPL1 Homo sapiens Q9H0R8
Anti Tag CoIP
33961781
Intra STBD1 O95210 GABARAPL1 Homo sapiens Q9H0R8
Pull Down
20562859
Intra STBD1 O95210 GABARAPL1 Homo sapiens Q9H0R8
Anti Tag CoIP
28514442
Intra STBD1 O95210 KASH5 Homo sapiens Q8N6L0
Y2H Array
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
Capillary Malformations, Congenital

Familial Multiple Nevi Flammei

Nevi Flammei, Familial Multiple

CMC

Port-Wine Stain

Capillary Malformations

Cmal

Familial Multiple Port-Wine Stains

Capillary Malformation

Capillary Malformations, Congenital, 1, Somatic, Mosaic

Congenital Capillary Malformations

Port-Wine Stain Familial Multiple

Hereditary Capillary Malformations

Capillary Malformations, Hereditary

Capillary Malformations, Congenital, Type 1, Somatic, Mosaic

Strawberry Nevus Of Skin

Naevus Flammeus

Glycogen Storage Disease Iii

Glycogen Storage Disease Type Iii

Forbes Disease

Cori Disease

Glycogen Storage Disease Iiia

Amylo-1,6-Glucosidase Deficiency

Glycogen Storage Disease Iiib

Limit Dextrinosis

GSD3

Agl Deficiency

Glycogen Debrancher Deficiency

Gde Deficiency

Glycogen Storage Disease Iiic

Debrancher Deficiency

Glycogen Storage Disease Type 3

Glycogenosis Type Iii

Glycogen Storage Disease Iiid

Amylo 1,6 Glucosidase Deficiency

Deficiency Of Debranching Enzyme

Deficiency Of Dextrin

Glycogen Storage Disease, Type Iii

Glycogen Debranching Enzyme Deficiency

Cori'S Disease

Gsd Iii

Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency

Cori-Forbes Disease

Gsd Due To Glycogen Debranching Enzyme Deficiency

Gsd Type 3

Gsdiii

Glycogenosis Due To Glycogen Debranching Enzyme Deficiency

Glycogenosis Type 3

Glycogen Storage Disease 3

Glycogen Debranching Enzyme Deficiency

Gsd-Iii

Gsd Iiia

Gsd Iiib

Gsd Iiic

Gsd Iiid

Storage Disease, Glycogen, Type Iii

Glycogen Storage Disease Ii

Pompe Disease

Glycogen Storage Disease Type Ii

Acid Maltase Deficiency

Gsd Ii

Gaa Deficiency

Alpha-1,4-Glucosidase Deficiency

Glycogenosis Type Ii

GSD2

Acid Alpha-Glucosidase Deficiency

Amd

Glycogen Storage Disease, Type Ii

Pompe'S Disease

Glycogen Storage Disease Type 2

Cardiomegalia Glycogenica Diffusa

Acid Maltase Deficiency Disease

Deficiency Of Alpha-Glucosidase

Glycogenosis, Generalized, Cardiac Form

Deficiency Of Glucoamylase

Deficiency Of Maltase

Generalized Glycogenosis

Glycogenosis, Type 2

Lysosomal Alpha-1,4-Glucosidase Deficiency

Glucosidase Acid-1,4-Alpha Deficiency

Aglucosidase Alfa

Deficiency Of Lysosomal Alpha-Glucosidase

Glycogen Storage Disease Due To Acid Maltase Deficiency

Alpha-1,4-Glucosidase Acid Deficiency

Gsd Due To Acid Maltase Deficiency

Gsd Type 2

Gsd Type Ii

Glycogenosis Due To Acid Maltase Deficiency

Glycogenosis Type 2

Glycogen Storage Disease 2

Cardiomegalia Glycogenica

Glycogenosis Generalized Cardiac Form

Glycogenosis Ii

Gsd-Ii

Storage Disease, Glycogen, Type Ii

Generalized Glycogen Storage Disease Of Infants

Cardiac Form Of Generalized Glycogenosis

Myoclonic Epilepsy Of Lafora

Lafora Disease

Epilepsy, Progressive Myoclonic 2b

EPM2

Melf

Epilepsy, Progressive Myoclonic 2a

Epm2a

Lafora'S Disease

Lafora Body Disease

Lbd

Epilepsy, Progressive Myoclonic, 2a

Lafora Progressive Myoclonic Epilepsy

Epilepsy Progressive Myoclonic 2

Lafora Body Disorder

Pme Type 2

Progressive Myoclonic Epilepsy Type 2

Progressive Myoclonus Epilepsy Type 2

Epilepsy, Progressive Myoclonic 2

Epm2b

Ld

Progressive Myoclonic Epilepsy 2

Progressive Myoclonic Epilepsy 2a

Progressive Myoclonic Epilepsy 2b

Progressive Myoclonic Epilepsy Lafora Type

Epilepsy, Myoclonic, Of Lafora

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1

Progressive Myoclonus Epilepsy

Pme

Progressive Myoclonic Epilepsy

Myoclonic Epilepsies, Progressive

Unverricht-Lundborg Syndrome

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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

直系同源

种属 基因名 来源 基因 ID
Felis catus STBD1 VGNC VGNC:65766
Mus musculus STBD1 MGD MGI:1261768
Bos taurus STBD1 VGNC VGNC:35376
Rattus norvegicus STBD1 RGD RGD:1311800
Canis familiaris STBD1 VGNC VGNC:57413