2. Gene
  3. COBL - cordon-bleu WH2 repeat protein Gene

COBL - cordon-bleu WH2 repeat protein Gene

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

中文名称：蓝带 WH2 重复蛋白

种属: Homo sapiens

基因 ID: 23242 | 基因类型: protein coding

关于 COBL

Cytogenetic location: 7p12.1 Genomic coordinates (GRCh38): 7:51,016,212-51,316,809 (from NCBI)

This gene has 11 transcripts (splice variants), 207 orthologues and 1 paralogue. Broad expression in brain (RPKM 13.9), heart (RPKM 7.3) and 18 other tissues.

功能概要

该基因编码的蛋白质包含与肌动蛋白相互作用的 WH2 结构域 (WASP、Wiskott-Aldrich 综合征蛋白、同源结构域 2) 。编码的肌动蛋白调节蛋白是刷状缘微绒毛生长和组装所必需的，刷状缘微绒毛在维持肠道稳态中发挥作用。小鼠中的一种类似蛋白质在中脑神经管闭合中发挥作用。该基因的假基因位于 X 染色体上。[RefSeq 提供，2016 年 10 月]

This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X. [provided by RefSeq, Oct 2016]

COBL 基因产物(8)

mRNA Protein Name
NM_001287436.3 NP_001274365.1 protein cordon-bleu isoform a
NM_001287438.3 NP_001274367.1 protein cordon-bleu isoform c
NM_001346441.2 NP_001333370.1 protein cordon-bleu isoform d
NM_001346442.2 NP_001333371.1 protein cordon-bleu isoform e
NM_001346443.2 NP_001333372.1 protein cordon-bleu isoform f
NM_001346444.2 NP_001333373.1 protein cordon-bleu isoform g
NM_001410881.1 NP_001397810.1 protein cordon-bleu isoform h
NM_015198.5 NP_056013.2 protein cordon-bleu isoform b

COBL 蛋白结构

Cobl

Cobl: Cordon-bleu ubiquitin-like domain (182 - 259)

WH2

WH2: WH2 motif (1107 - 1134)

WH2

WH2: WH2 motif (1147 - 1175)

WH2

WH2: WH2 motif (1236 - 1257)

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  • 1261 a.a.
蛋白主名 其他名称

protein cordon-bleu

COBL 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
COBL O75128 ALAS1 Homo sapiens P13196
Y2H Prey Pooling
32296183
种属内
COBL O75128 ALAS1 Homo sapiens P13196
Validated Y2H
32296183
种属内
COBL O75128 ALAS1 Homo sapiens P13196
Y2H Array
32296183
种属内
COBL O75128 PACSIN1 Homo sapiens Q9BY11
Y2H Pooling
20936779
种属内
COBL O75128 PACSIN1 Homo sapiens Q9BY11
Anti Tag CoIP
33961781
种属内
COBL O75128 PACSIN2 Homo sapiens Q9UNF0
Anti Tag CoIP
33961781
种属内
COBL O75128 PACSIN2 Homo sapiens Q9UNF0
Validated Y2H
32296183
种属内
COBL O75128 PACSIN2 Homo sapiens Q9UNF0
Y2H Array
32296183
种属内
COBL O75128 PACSIN2 Homo sapiens Q9UNF0
Y2H Prey Pooling
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
Van Maldergem Syndrome 2

VMLDS2
Hemoglobin H Disease

HBH

Hemoglobin H Disease, Nondeletional

Hemoglobin H Disease, Deletional

Alpha-Thalassemia Intermedia

Haemoglobin H Disease

Alpha-Thalassemia, Hemoglobin H Type

Hemoglobin H Disease, Deletional And Nondeletional

Alpha Thalassemia, Haemoglobin H Type

Alpha Thalassemia, Hemoglobin H Type

Haemoglobin H Disease, Deletional

Hbh Disease

Alpha-Thalassemia Hemoglobin H Type

Hemoglobin H Disease Deletional

Hemoglobin H Disease Non-Deletional

Alpha-Thalassemia

Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia

Alpha Thalassaemia Intermedia
Granulomatosis With Polyangiitis

GPA

Wegener Granulomatosis

Wegener Granulomatosis, Formerly

Midline Granulomatosis

Wg, Formerly

Necrotizing Respiratory Granulomatosis

Wg

Wegeners Granulomatosis

Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis
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-RS02947 COBL 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 COBL MGD MGI:105056
Bos taurus COBL VGNC VGNC:106697
Macaca mulatta COBL VGNC VGNC:71308
Canis familiaris COBL VGNC VGNC:39445
Rattus norvegicus COBL RGD RGD:1312002
Felis catus COBL VGNC VGNC:78410
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