2. Gene
  3. NCKAP1L - NCK associated protein 1 like Gene

NCKAP1L - NCK associated protein 1 like Gene

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

中文名称：NCK 相关蛋白 1 样

种属: Homo sapiens

同用名: HEM1; IMD72

基因 ID: 3071 | 基因类型: protein coding

关于 NCKAP1L

Cytogenetic location: 12q13.13-q13.2 Genomic coordinates (GRCh38): 12:54,497,752-54,548,243 (from NCBI)

This gene has 8 transcripts (splice variants), 211 orthologues, 1 paralogue and is associated with 1 phenotype. Broad expression in lymph node (RPKM 38.4), appendix (RPKM 34.7) and 18 other tissues.

功能概要

该基因编码组织特异性跨膜蛋白 HEM 家族的成员，该蛋白从无脊椎动物到哺乳动物都高度保守。该基因仅在造血细胞中表达。编码的蛋白质是 Scar/WAVE 复合物的一部分，它在调节后生动物和植物的细胞形状方面起着重要作用。已发现编码不同亚型的可变剪接转录本变体。[RefSeq 提供，2010 年 5 月]

This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and Plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]

NCKAP1L 基因产物(2)

mRNA Protein Name
NM_001184976.2 NP_001171905.1 nck-associated protein 1-like isoform 2
NM_005337.5 NP_005328.2 nck-associated protein 1-like isoform 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 GTPase activator activity IMP
IMP: 通过突变表型推断
16417406 GOA
enables TORC2 complex binding IDA
IDA: 通过直接分析推断
32647003 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16417406 GOA
enables protein kinase activator activity IMP
IMP: 通过突变表型推断
16417406 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
16417406 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in B cell receptor signaling pathway IMP
IMP: 通过突变表型推断
17875758 GOA
involved in actin polymerization-dependent cell motility IMP
IMP: 通过突变表型推断
16417406 GOA
involved in chemotaxis IDA
IDA: 通过直接分析推断
16417406 GOA
involved in cortical actin cytoskeleton organization IMP
IMP: 通过突变表型推断
16417406 GOA
involved in erythrocyte development IEP
IEP: 通过表达模式推断
7643388 GOA
involved in maintenance of cell polarity IMP
IMP: 通过突变表型推断
16417406 GOA
involved in negative regulation of apoptotic process IMP
IMP: 通过突变表型推断
17875758 GOA
involved in negative regulation of cytotoxic T cell degranulation IMP
IMP: 通过突变表型推断
32647003 GOA
involved in neutrophil chemotaxis IDA
IDA: 通过直接分析推断
16417406 GOA
involved in positive regulation of B cell proliferation IMP
IMP: 通过突变表型推断
17875758 GOA
involved in positive regulation of T cell proliferation IMP
IMP: 通过突变表型推断
32647003 GOA
involved in positive regulation of TORC2 signaling IMP
IMP: 通过突变表型推断
32647003 GOA
involved in positive regulation of actin filament polymerization IMP
IMP: 通过突变表型推断
16417406 GOA
involved in positive regulation of leukocyte migration IMP
IMP: 通过突变表型推断
32647003 GOA
involved in positive regulation of neutrophil migration IMP
IMP: 通过突变表型推断
32647003 GOA
involved in positive regulation of phosphorylation IMP
IMP: 通过突变表型推断
16417406 GOA
involved in response to xenobiotic stimulus IMP
IMP: 通过突变表型推断
17875758 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SCAR complex IDA
IDA: 通过直接分析推断
16417406 GOA
located in cytosol IDA
IDA: 通过直接分析推断
16417406 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

NCKAP1L 蛋白结构

Nckap1

Nckap1: Membrane-associated apoptosis protein (6 - 1123)

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  • 1127 a.a.
蛋白主名 其他名称

nck-associated protein 1-like

hematopoietic protein 1

关联疾病

疾病名称 别名
Immunodeficiency 72 With Autoinflammation

IMD72

Immunodeficiency 72
Bronchus Cancer

Malignant Neoplasm Of Bronchus And Lung

Bronchus Carcinoma

Bronchogenic Carcinoma

Malignant Neoplasm Of Bronchus Or Lung

Bc - Bronchogenic Carcinoma

Carcinoma, Bronchogenic

Bronchial Neoplasms
Bronchus Adenoma

Bronchial Adenoma

Adenoma Of The Bronchus
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia

Platelet Abnormalities With Eosinophilia And Immune-Mediated Inflammatory Disease

IMD71

Plteid

Immunodeficiency 71
Brachydactyly, Type C

Brachydactyly Type C

BDC

Brachydactyly Haws Type

Brachydactyly, Haws Type

Brachydactyly C
Spastic Hemiplegia

Spastic Hemiplegic Cerebral Palsy

Hemiplegic Cerebral Palsy

Congenital Hemiplegia

Hemiplegic Infantile Cerebral Palsy

Cerebral Palsy Spastic Hemiplegic

Spastic Hemiplegia Cerebral Palsy

Hemiplegia, Spastic
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-RS09083 NCKAP1L Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta NCKAP1L VGNC VGNC:75063
Felis catus NCKAP1L VGNC VGNC:67553
Canis familiaris NCKAP1L VGNC VGNC:49906
Rattus norvegicus NCKAP1L RGD RGD:1312032
Mus musculus NCKAP1L MGD MGI:1926063
Bos taurus NCKAP1L VGNC VGNC:31916
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