2. Gene
  3. CAMSAP3 - calmodulin regulated spectrin associated protein family member 3 Gene

CAMSAP3 - calmodulin regulated spectrin associated protein family member 3 Gene

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

中文名称：钙调蛋白调节血影蛋白相关蛋白家族成员 3

种属: Homo sapiens

同用名: NEZHA; PPP1R80; KIAA1543

基因 ID: 57662 | 基因类型: protein coding

关于 CAMSAP3

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:7,595,863-7,618,304 (from NCBI)

This gene has 4 transcripts (splice variants), 269 orthologues and 2 paralogues. Broad expression in skin (RPKM 9.2), duodenum (RPKM 7.0) and 18 other tissues.

功能概要

启用肌动蛋白丝结合活性和微管负端结合活性。参与多个过程，包括微管细胞骨架组织；细胞器组织的调节；和 zonula 坚持维护。位于细胞质中；核质；和粘附带。与中心体和微管负端共定位。 [由基因组资源联盟提供，2022 年 4 月]

Enables actin filament binding activity and microtubule minus-end binding activity. Involved in several processes, including microtubule Cytoskeleton organization; regulation of organelle organization; and zonula adherens maintenance. Located in cytoplasm; nucleoplasm; and zonula adherens. Colocalizes with centrosome and microtubule minus-end. [provided by Alliance of Genome Resources, Apr 2022]

CAMSAP3 基因产物(2)

mRNA Protein Name
NM_001080429.3 NP_001073898.1 calmodulin-regulated spectrin-associated protein 3 isoform 1
NM_020902.2 NP_065953.1 calmodulin-regulated spectrin-associated protein 3 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 actin filament binding IDA
IDA: 通过直接分析推断
27693509 GOA
enables microtubule minus-end binding IDA
IDA: 通过直接分析推断
19041755 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
24486153 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in epithelial cell-cell adhesion IMP
IMP: 通过突变表型推断
19041755 GOA
involved in establishment of epithelial cell apical/basal polarity IDA
IDA: 通过直接分析推断
26715742 GOA
involved in establishment or maintenance of microtubule cytoskeleton polarity IDA
IDA: 通过直接分析推断
26715742 GOA
involved in microtubule anchoring IMP
IMP: 通过突变表型推断
19041755 GOA
involved in microtubule cytoskeleton organization IDA
IDA: 通过直接分析推断
24486153 GOA
involved in microtubule cytoskeleton organization IMP
IMP: 通过突变表型推断
23169647 GOA
involved in regulation of Golgi organization IDA
IDA: 通过直接分析推断
28089391 GOA
involved in regulation of cell migration IDA
IDA: 通过直接分析推断
27693509 GOA
involved in regulation of focal adhesion assembly IDA
IDA: 通过直接分析推断
27693509 GOA
involved in regulation of microtubule cytoskeleton organization IMP
IMP: 通过突变表型推断
19041755 GOA
involved in regulation of microtubule polymerization IDA
IDA: 通过直接分析推断
24486153 GOA
involved in regulation of organelle organization IMP
IMP: 通过突变表型推断
23169647 GOA
involved in zonula adherens maintenance IMP
IMP: 通过突变表型推断
19041755 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with centrosome IDA
IDA: 通过直接分析推断
23169647 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
19041755 GOA
colocalizes with microtubule minus-end IDA
IDA: 通过直接分析推断
24486153 GOA
located in zonula adherens IDA
IDA: 通过直接分析推断
19041755 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

CAMSAP3 蛋白结构

CAMSAP_CH

CAMSAP_CH: CAMSAP CH domain (217 - 296)

CAMSAP_CKK

CAMSAP_CKK: Microtubule-binding calmodulin-regulated spectrin-associated (1109 - 1228)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1249 a.a.
蛋白主名 其他名称

calmodulin-regulated spectrin-associated protein 3

protein phosphatase 1, regulatory subunit 80

关联疾病

疾病名称 别名
Deafness, Autosomal Dominant 21

DFNA21

Autosomal Dominant Nonsyndromic Deafness 21

Autosomal Dominant Deafness 21

Deafness, Autosomal Dominant, 21
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-RS01873 CAMSAP3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus CAMSAP3 VGNC VGNC:26731
Canis familiaris CAMSAP3 VGNC VGNC:38691
Mus musculus CAMSAP3 MGD MGI:1916947
Felis catus CAMSAP3 VGNC VGNC:102016
Macaca mulatta CAMSAP3 VGNC VGNC:70669
Rattus norvegicus CAMSAP3 RGD RGD:1597412
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