2. Gene
  3. IQSEC1 - IQ motif and Sec7 domain ArfGEF 1 Gene

IQSEC1 - IQ motif and Sec7 domain ArfGEF 1 Gene

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

中文名称：IQ 主题和 Sec7 域 ArfGEF 1

种属: Homo sapiens

同用名: BRAG2; GEP100; IDDSSBA; ARFGEP100; ARF-GEP100

基因 ID: 9922 | 基因类型: protein coding

关于 IQSEC1

Cytogenetic location: 3p25.2-p25.1 Genomic coordinates (GRCh38): 3:12,897,043-13,283,257 (from NCBI)

This gene has 9 transcripts (splice variants), 288 orthologues, 15 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 17.9), bone marrow (RPKM 13.3) and 25 other tissues.

功能概要

预测启用蛋白激酶结合活性。预计参与多个过程，包括粘着斑拆卸的正调控；角质形成细胞迁移的正向调节；和突触后神经递质受体内化的调节。位于核仁。与身材矮小和行为异常的智力发育障碍有关。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable protein kinase binding activity. Predicted to be involved in several processes, including positive regulation of focal adhesion disassembly; positive regulation of keratinocyte migration; and regulation of postsynaptic neurotransmitter receptor internalization. Located in nucleolus. Implicated in intellectual developmental disorder with short stature and behavioral abnormalities. [provided by Alliance of Genome Resources, Apr 2022]

IQSEC1 基因产物(4)

mRNA Protein Name
NM_001134382.3 NP_001127854.1 IQ motif and SEC7 domain-containing protein 1 isoform a
NM_001330619.3 NP_001317548.1 IQ motif and SEC7 domain-containing protein 1 isoform c
NM_001376938.2 NP_001363867.1 IQ motif and SEC7 domain-containing protein 1 isoform d
NM_014869.8 NP_055684.3 IQ motif and SEC7 domain-containing protein 1 isoform b
基因本体论
  • 分子功能
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
27265506 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

IQSEC1 蛋白结构

Sec7

Sec7: Sec7 domain (524 - 712)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 963 a.a.
蛋白主名 其他名称

IQ motif and SEC7 domain-containing protein 1

ADP-ribosylation factors guanine nucleotide-exchange protein 100

IQSEC1 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
IQSEC1 Q6DN90 GNAQ Homo sapiens P50148
Anti Bait CoIP
27265506
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
Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities

IDDSSBA
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Aphasia
Non-Syndromic X-Linked Intellectual Disability 1

Mrx1

Mrx18

Mrx78

X-Linked Mental Retardation 1/78

X-Linked Mental Retardation 18
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
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-RS06888 IQSEC1 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 IQSEC1 MGD MGI:1196356
Canis familiaris IQSEC1 VGNC VGNC:42083
Rattus norvegicus IQSEC1 RGD RGD:1596313
Felis catus IQSEC1 VGNC VGNC:62967
Macaca mulatta IQSEC1 VGNC VGNC:73677
Bos taurus IQSEC1 VGNC VGNC:30261
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