2. Gene
  3. NECAP1 - NECAP endocytosis associated 1 Gene

NECAP1 - NECAP endocytosis associated 1 Gene

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

中文名称：NECAP 内吞作用相关 1

种属: Homo sapiens

同用名: DEE21; EIEE21

基因 ID: 25977 | 基因类型: protein coding

关于 NECAP1

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:8,082,274-8,097,881 (from NCBI)

This gene has 27 transcripts (splice variants), 244 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 49.7), bone marrow (RPKM 34.9) and 25 other tissues.

功能概要

该基因编码的蛋白质含有两个特征性的 WXXF 基序。编码的蛋白质定位于网格蛋白包被的囊泡，在那里它结合衔接蛋白复合物的成分并有助于内吞作用。该基因功能的丧失导致早期婴儿癫痫性脑病 21。该基因在 7 号染色体上有一个假基因。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 6 月]

This gene encodes a protein containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

NECAP1 基因产物(1)

mRNA Protein Name
NM_015509.4 NP_056324.2 adaptin ear-binding coat-associated protein 1
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
32296183 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

NECAP1 蛋白结构

DUF1681

DUF1681: Protein of unknown function (DUF1681) (6 - 164)

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

adaptin ear-binding coat-associated protein 1

NECAP1 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
NECAP1 Q8NC96 AP1B1 Homo sapiens Q10567-3
Y2H Prey Pooling
32296183
种属内
NECAP1 Q8NC96 AP1B1 Homo sapiens Q10567-3
Y2H Array
32296183
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
Developmental And Epileptic Encephalopathy 21

DEE21

Epileptic Encephalopathy, Early Infantile, 21

Eiee21

Developmental And Epileptic Encephalopathy, 21

Early Infantile Epileptic Encephalopathy 21

Encephalopathy, Epileptic, Early Infantile, Type 21
Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee
Epilepsy, Idiopathic Generalized 14

EIG14

Epilepsy, Idiopathic Generalized, Susceptibility To, 14

Idiopathic Generalized Epilepsy 14

{Epilepsy, Idiopathic Generalized, Susceptibility To, 14}
Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
Lissencephaly 8

LIS8
Spinocerebellar Ataxia, Autosomal Recessive 24

SCAR24

Autosomal Recessive Spinocerebellar Ataxia 24

Spinocerebellar Ataxia, Autosomal Recessive, 24

Ataxia, Spinocerebellar, Autosomal Recessive, Type 24
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Neonatal Period Electroclinical Syndrome
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-RS09172 NECAP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris NECAP1 VGNC VGNC:43716
Bos taurus NECAP1 VGNC VGNC:31980
Rattus norvegicus NECAP1 RGD RGD:1306053
Felis catus NECAP1 VGNC VGNC:63765
Macaca mulatta NECAP1 VGNC VGNC:75246
Mus musculus NECAP1 MGD MGI:1914852
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