1. Gene
  2. GRB10 - growth factor receptor bound protein 10 Gene

GRB10 - growth factor receptor bound protein 10 Gene

中文名称:生长因子受体结合蛋白 10

种属: Homo sapiens

同用名: RSS; IRBP; MEG1; GRB-IR; Grb-10

基因 ID: 2887 | 基因类型: protein coding

关于 GRB10

Cytogenetic location: 7p12.1 Genomic coordinates (GRCh38): 7:50,590,068-50,793,453 (from NCBI)

This gene has 26 transcripts (splice variants), 280 orthologues and 4 paralogues. Ubiquitous expression in thyroid (RPKM 6.6), kidney (RPKM 5.7) and 25 other tissues.

功能概要

该基因的产物属于已知与许多受体酪氨酸激酶和信号分子相互作用的一小部分衔接蛋白。该基因编码与胰岛素受体和胰岛素样生长因子受体相互作用的生长因子受体结合蛋白。所编码蛋白质的某些亚型的过度表达会抑制酪氨酸激酶活性并导致生长抑制。该基因以高度同种型和组织特异性的方式印记,从大脑中的父系等位基因和胎盘滋养细胞中的母系等位基因观察到表达。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,2010 年 10 月]

The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of Receptor Tyrosine Kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with Insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]

GRB10 基因产物(8)

mRNA Protein Name
NM_001001549.3 NP_001001549.1 growth factor receptor-bound protein 10 isoform b
NM_001001550.3 NP_001001550.1 growth factor receptor-bound protein 10 isoform c
NM_001001555.3 NP_001001555.1 growth factor receptor-bound protein 10 isoform c
NM_001350814.2 NP_001337743.1 growth factor receptor-bound protein 10 isoform a
NM_001350815.2 NP_001337744.1 growth factor receptor-bound protein 10 isoform d
NM_001350816.3 NP_001337745.2 growth factor receptor-bound protein 10 isoform c
NM_001371008.1 NP_001357937.1 growth factor receptor-bound protein 10 isoform c
NM_001371009.1 NP_001357938.1 growth factor receptor-bound protein 10 isoform f
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 identical protein binding IPI
IPI: 通过物理相互作用推断
19648926 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8798570 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of Wnt signaling pathway IDA
IDA: 通过直接分析推断
17376403 GOA
involved in positive regulation of vascular endothelial growth factor receptor signaling pathway IDA
IDA: 通过直接分析推断
15060076 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of protein-containing complex IDA
IDA: 通过直接分析推断
20878056 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

GRB10 蛋白结构

RA

RA: Ras association (RalGDS/AF-6) domain (168 - 248)

PH

PH: PH domain (292 - 396)

BPS

BPS: BPS (Between PH and SH2) (425 - 471)

SH2

SH2: SH2 domain (493 - 574)

  • 0
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  • 500
  • 594 a.a.
蛋白主名 其他名称

growth factor receptor-bound protein 10

GRB10 adapter protein

GRB10 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
GRB10 Q13322 EGFR Homo sapiens P00533
Ub Reconstruction
24658140
种属内
GRB10 Q13322 YWHAE Homo sapiens P62258
Crosslink
36931259
种属内
GRB10 Q13322 FLT3 Homo sapiens P36888
Anti Bait CoIP
23246379
种属内
GRB10 Q13322 FLT3 Homo sapiens P36888
Pull Down
23246379
种属内
GRB10 Q13322 FLT3 Homo sapiens P36888
Anti Tag CoIP
23246379
种属内
GRB10 Q13322 INSR Homo sapiens P06213
Pull Down
9506989
种属内
GRB10 Q13322 INSR Homo sapiens P06213
Protein 3 Hybrid
9506989
种属内
GRB10 Q13322 SFN Homo sapiens P31947
Anti Tag CoIP
31980649
种属内
GRB10 Q13322 EPHB1 Homo sapiens P54762
Pull Down
8798570
种属内
GRB10 Q13322 RCAN3 Homo sapiens Q9UKA8
Validated Y2H
25814554
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
Transient Neonatal Diabetes Mellitus

Diabetes Mellitus, Transient Neonatal

Tndm

Chromosome 6-Associated Transient Diabetes Mellitus

Dmtn

Diabetes Mellitus, 6q24-Related Transient Neonatal

Tndm1

Neonatal Diabetes Mellitus, Transient

Tndm -[Transient Neonatal Diabetes Mellitus]

Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome

Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome

SPG17

Silver Spastic Paraplegia Syndrome

Spastic Paraplegia With Amyotrophy Of Hands And Feet

Hereditary Spastic Paraplegia 17

Autosomal Dominant Spastic Paraplegia Type 17

Spastic Paraplegia 17

Spastic Paraplegia-Amyotrophy Of Hands And Feet

Autosomal Dominant Spastic Paraplegia 17

Dhmn5b

Distal Hereditary Motor Neuropathy Type 5b

Paraplegia, Spastic, Autosomal Dominant, Type 17

Russell-Silver Syndrome

Neuronopathy, Distal Hereditary Motor, Type Vb

Mulchandani-Bhoj-Conlin Syndrome

MBCS

Maternal Uniparental Disomy Of Chromosome 20

Maternal Upd(20)

Upd(20)Mat

Uniparental Disomy, Maternal, Chromosome 20

Temple Syndrome

Uniparental Disomy, Maternal, Chromosome 14

Temple Syndrome Due To Paternal 14q32.2 Microdeletion

Paternal Del(14)(Q32.2)

Temple Syndrome Due To Paternal 14q32.2 Hypomethylation

Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14

Upd(14)Mat

Isolated Growth Hormone Deficiency, Type Ib

Isolated Growth Hormone Deficiency Type Ib

IGHD1B

Ighd Ib

Growth Hormone Deficiency, Isolated, Type Ib

Congenital Ighd Type Ib

Congenital Isolated Gh Deficiency Type Ib

Congenital Isolated Growth Hormone Deficiency Type Ib

Dwarfism Of Sindh

Pituitary Dwarfism I

Isolated Growth Hormone Deficiency Type 1b

Ighd 1b

Growth Hormone Deficiency, Isolated, 1b

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

Kagami-Ogata Syndrome

Paternal Uniparental Disomy Of Chromosome 14

Uniparental Disomy, Paternal, Chromosome 14

Kos

Mca Due To 14q32.2 Maternally Expressed Gene Defect

Paternal Uniparental Disomy 14

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion

Maternal Del(14)(Q32.2)

Maternal Monosomy 14q32.2

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation

Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14

Upd(14)Pat

Osteogenesis Imperfecta, Type Iii

Osteogenesis Imperfecta Type Iii

OI3

Oi, Type Iii

Osteogenesis Imperfecta Type 3

Oi Type Iii

Oi Type 3

Progressive Deforming Osteogenesis Imperfecta

Severe Osteogenesis Imperfecta

Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae

Progressively Deforming Osteogenesis Imperfecta With Normal Sclera

Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae

Progressively Deforming Oi

Osteogenesis Imperfecta 3

Oi-Iii

Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

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 GRB10 VGNC VGNC:67456
Bos taurus GRB10 VGNC VGNC:29629
Macaca mulatta GRB10 VGNC VGNC:73157
Mus musculus GRB10 MGD MGI:103232
Canis familiaris GRB10 VGNC VGNC:51874
Rattus norvegicus GRB10 RGD RGD:1566234