1. Gene
  2. AHNAK - AHNAK nucleoprotein Gene

AHNAK - AHNAK nucleoprotein Gene

中文名称:AHNAK 核蛋白

种属: Homo sapiens

同用名: PM227; AHNAK1; AHNAKRS

基因 ID: 79026 | 基因类型: protein coding

关于 AHNAK

Cytogenetic location: 11q12.3 Genomic coordinates (GRCh38): 11:62,433,544-62,546,806 (from NCBI)

This gene has 8 transcripts (splice variants), 169 orthologues and 2 paralogues. Ubiquitous expression in skin (RPKM 158.4), fat (RPKM 150.5) and 24 other tissues.

功能概要

由该基因编码的蛋白质是一种大型 (700 kDa) 结构支架蛋白,由具有 128 个氨基酸重复的中央结构域组成。编码的蛋白质可能在血脑屏障形成、细胞结构和迁移、心脏钙通道调节和肿瘤转移等多种过程中发挥作用。该基因存在编码 17 kDa 同种型的更短变体,并且更短的同种型启动调节该基因可变剪接的反馈回路。[RefSeq 提供,2016 年 10 月]

The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac Calcium Channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]

AHNAK 基因产物(4)

mRNA Protein Name
NM_001346445.2 NP_001333374.1 neuroblast differentiation-associated protein AHNAK isoform 1
NM_001346446.2 NP_001333375.1 neuroblast differentiation-associated protein AHNAK isoform 1
NM_001620.3 NP_001611.1 neuroblast differentiation-associated protein AHNAK isoform 1
NM_024060.4 NP_076965.2 neuroblast differentiation-associated protein AHNAK isoform 2
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 S100 protein binding IPI
IPI: 通过物理相互作用推断
14699089 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
21940993 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15607035 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of voltage-gated calcium channel activity IMP
IMP: 通过突变表型推断
22038483 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in actin cytoskeleton IDA
IDA: 通过直接分析推断
21940993 GOA
located in cell-cell contact zone IDA
IDA: 通过直接分析推断
21940993 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
22057634 GOA
located in extracellular exosome IDA
IDA: 通过直接分析推断
22057634 GOA
colocalizes with membrane raft IDA
IDA: 通过直接分析推断
14699089 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
3126079 GOA
part of plasma membrane protein complex IPI
IPI: 通过物理相互作用推断
23275167 GOA
located in sarcolemma IDA
IDA: 通过直接分析推断
22057634 GOA
located in vesicle IDA
IDA: 通过直接分析推断
21940993 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
蛋白主名 其他名称

neuroblast differentiation-associated protein AHNAK

AHNAK-related

AHNAK 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
AHNAK Q09666 EGFR Homo sapiens P00533
Ub Reconstruction
20029029
种属内
AHNAK Q09666 S100A10 Homo sapiens P60903
Crosslink
30021884
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
Megacolon

Dilatation Of Colon

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2b

Lgmd3

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy Type 3

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

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 AHNAK VGNC VGNC:99540
Rattus norvegicus AHNAK RGD RGD:619779
Mus musculus AHNAK MGD MGI:1316648
Bos taurus AHNAK VGNC VGNC:25754
Canis familiaris AHNAK VGNC VGNC:37728