1. Gene
  2. SORBS1 - sorbin and SH3 domain containing 1 Gene

SORBS1 - sorbin and SH3 domain containing 1 Gene

中文名称:含山梨醇和 SH3 域 1

种属: Homo sapiens

同用名: CAP; FLAF2; R85FL; SH3D5; SORB1; SH3P12

基因 ID: 10580 | 基因类型: protein coding

关于 SORBS1

Cytogenetic location: 10q24.1 Genomic coordinates (GRCh38): 10:95,311,773-95,561,371 (from NCBI)

This gene has 23 transcripts (splice variants), 200 orthologues and 12 paralogues. Broad expression in fat (RPKM 111.7), heart (RPKM 81.6) and 15 other tissues.

功能概要

该基因编码一种 CBL 相关蛋白,该蛋白在胰岛素的信号传导和刺激中发挥作用。该基因的突变可能与人类胰岛素抵抗障碍有关。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 3 月]

This gene encodes a CBL-associated protein which functions in the signaling and stimulation of Insulin. Mutations in this gene may be associated with human disorders of Insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

SORBS1 基因产物(44)

mRNA Protein Name
NM_001034954.3 NP_001030126.2 sorbin and SH3 domain-containing protein 1 isoform 3
NM_001034955.2 NP_001030127.2 sorbin and SH3 domain-containing protein 1 isoform 4
NM_001034956.2 NP_001030128.2 sorbin and SH3 domain-containing protein 1 isoform 5
NM_001034957.3 NP_001030129.2 sorbin and SH3 domain-containing protein 1 isoform 7
NM_001290294.2 NP_001277223.2 sorbin and SH3 domain-containing protein 1 isoform 8
NM_001290295.2 NP_001277224.2 sorbin and SH3 domain-containing protein 1 isoform 9
NM_001290296.2 NP_001277225.2 sorbin and SH3 domain-containing protein 1 isoform 10
NM_001290297.3 NP_001277226.2 sorbin and SH3 domain-containing protein 1 isoform 11
NM_001290298.3 NP_001277227.2 sorbin and SH3 domain-containing protein 1 isoform 12
NM_001377197.1 NP_001364126.1 sorbin and SH3 domain-containing protein 1 isoform 13
NM_001377198.1 NP_001364127.1 sorbin and SH3 domain-containing protein 1 isoform 14
NM_001377199.1 NP_001364128.1 sorbin and SH3 domain-containing protein 1 isoform 15
NM_001377200.1 NP_001364129.1 sorbin and SH3 domain-containing protein 1 isoform 16
NM_001377201.1 NP_001364130.1 sorbin and SH3 domain-containing protein 1 isoform 17
NM_001377202.1 NP_001364131.1 sorbin and SH3 domain-containing protein 1 isoform 18
NM_001377203.1 NP_001364132.1 sorbin and SH3 domain-containing protein 1 isoform 19
NM_001377204.1 NP_001364133.1 sorbin and SH3 domain-containing protein 1 isoform 20
NM_001377205.1 NP_001364134.1 sorbin and SH3 domain-containing protein 1 isoform 21
NM_001377206.1 NP_001364135.1 sorbin and SH3 domain-containing protein 1 isoform 22
NM_001377207.1 NP_001364136.1 sorbin and SH3 domain-containing protein 1 isoform 23
NM_001377208.1 NP_001364137.1 sorbin and SH3 domain-containing protein 1 isoform 24
NM_001377209.1 NP_001364138.1 sorbin and SH3 domain-containing protein 1 isoform 25
NM_001384447.1 NP_001371376.1 sorbin and SH3 domain-containing protein 1 isoform 26
NM_001384448.1 NP_001371377.1 sorbin and SH3 domain-containing protein 1 isoform 27
NM_001384449.1 NP_001371378.1 sorbin and SH3 domain-containing protein 1 isoform 28
NM_001384450.1 NP_001371379.1 sorbin and SH3 domain-containing protein 1 isoform 29
NM_001384451.1 NP_001371380.1 sorbin and SH3 domain-containing protein 1 isoform 30
NM_001384452.1 NP_001371381.1 sorbin and SH3 domain-containing protein 1 isoform 31
NM_001384453.1 NP_001371382.1 sorbin and SH3 domain-containing protein 1 isoform 32
NM_001384454.1 NP_001371383.1 sorbin and SH3 domain-containing protein 1 isoform 32
NM_001384455.1 NP_001371384.1 sorbin and SH3 domain-containing protein 1 isoform 11
NM_001384456.1 NP_001371385.1 sorbin and SH3 domain-containing protein 1 isoform 11
NM_001384457.1 NP_001371386.1 sorbin and SH3 domain-containing protein 1 isoform 11
NM_001384458.1 NP_001371387.1 sorbin and SH3 domain-containing protein 1 isoform 33
NM_001384459.1 NP_001371388.1 sorbin and SH3 domain-containing protein 1 isoform 34
NM_001384460.1 NP_001371389.1 sorbin and SH3 domain-containing protein 1 isoform 35
NM_001384461.1 NP_001371390.1 sorbin and SH3 domain-containing protein 1 isoform 36
NM_001384462.1 NP_001371391.1 sorbin and SH3 domain-containing protein 1 isoform 37
NM_001384463.1 NP_001371392.1 sorbin and SH3 domain-containing protein 1 isoform 38
NM_001384464.1 NP_001371393.1 sorbin and SH3 domain-containing protein 1 isoform 39
NM_001384465.1 NP_001371394.1 sorbin and SH3 domain-containing protein 1 isoform 40
NM_006434.4 NP_006425.3 sorbin and SH3 domain-containing protein 1 isoform 1
NM_015385.4 NP_056200.2 sorbin and SH3 domain-containing protein 1 isoform 2
NM_024991.3 NP_079267.2 sorbin and SH3 domain-containing protein 1 isoform 6
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables insulin receptor binding IDA
IDA: 通过直接分析推断
11374898 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11371513 GOA
enables signaling receptor complex adaptor activity IDA
IDA: 通过直接分析推断
11374898 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
11371513 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

SORBS1 蛋白结构

Sorb

Sorb: Sorbin homologous domain (367 - 407)

SH3_2

SH3_2: Variant SH3 domain (798 - 848)

SH3_9

SH3_9: Variant SH3 domain (874 - 924)

SH3_9

SH3_9: Variant SH3 domain (1238 - 1288)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1200
  • 1292 a.a.
蛋白主名 其他名称

sorbin and SH3 domain-containing protein 1

Fas-ligand associated factor 2

SORBS1 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
SORBS1 Q9BX66 PAK2 Homo sapiens Q13177 16374509
种属内
SORBS1 Q9BX66 INPPL1 Homo sapiens O15357
Y2H
12504111
种属内
SORBS1 Q9BX66 INPPL1 Homo sapiens O15357 12504111
种属内
SORBS1 Q9BX66 INPPL1 Homo sapiens O15357 12504111
种属内
SORBS1 Q9BX66 ABL1 Homo sapiens P00519 11374898
种属内
SORBS1 Q9BX66 HTT Homo sapiens P42858
Y2H
17500595
种属内
SORBS1 Q9BX66 ATXN7 Homo sapiens O15265
IF
23892081
种属内
SORBS1 Q9BX66 ATXN7 Homo sapiens O15265
ITC
23892081
种属内
SORBS1 Q9BX66 ATXN7 Homo sapiens O15265
NMR
23892081
种属内
SORBS1 Q9BX66 ATXN7 Homo sapiens O15265 23892081
种属间
SORBS1 Q9BX66 Dnm2 Rattus norvegicus P39052 19116150
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
Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

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
Macaca mulatta SORBS1 VGNC VGNC:77702
Bos taurus SORBS1 VGNC VGNC:55972
Canis familiaris SORBS1 VGNC VGNC:46657
Rattus norvegicus SORBS1 RGD RGD:1586598
Mus musculus SORBS1 MGD MGI:700014
Felis catus SORBS1 VGNC VGNC:65569