2. Gene
  3. DNMBP - dynamin binding protein Gene

DNMBP - dynamin binding protein Gene

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

中文名称：动力蛋白结合蛋白

种属: Homo sapiens

同用名: TUBA; CTRCT48; ARHGEF36

基因 ID: 23268 | 基因类型: protein coding

关于 DNMBP

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:99,875,571-100,009,947 (from NCBI)

This gene has 4 transcripts (splice variants), 205 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in small intestine (RPKM 10.7), duodenum (RPKM 8.5) and 25 other tissues.

功能概要

该基因编码一种属于鸟嘌呤核苷酸交换因子家族的蛋白质，它调节细胞连接的结构。它包含多个动力蛋白结合位点，从而将动力蛋白与肌动蛋白调节蛋白联系起来。该基因的多态性与某些人群中的阿尔茨海默氏病有关，尽管关于其他人群中这种联系的报道相互矛盾。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 12 月]

This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for Dynamin and thus links Dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

DNMBP 基因产物(3)

mRNA Protein Name
NM_001318326.2 NP_001305255.1 dynamin-binding protein isoform b
NM_001318327.1 NP_001305256.1 dynamin-binding protein isoform c
NM_015221.4 NP_056036.1 dynamin-binding protein isoform a
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 guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
17015620 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16413298 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of cell shape IMP
IMP: 通过突变表型推断
17015620 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell-cell junction IDA
IDA: 通过直接分析推断
17015620 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

DNMBP 蛋白结构

SH3_1

SH3_1: SH3 domain (8 - 53)

SH3_2

SH3_2: Variant SH3 domain (71 - 123)

SH3_9

SH3_9: Variant SH3 domain (158 - 200)

SH3_1

SH3_1: SH3 domain (249 - 293)

RhoGEF

RhoGEF: RhoGEF domain (788 - 966)

BAR

BAR: BAR domain (998 - 1204)

SH3_9

SH3_9: Variant SH3 domain (1520 - 1571)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1577 a.a.
蛋白主名 其他名称

dynamin-binding protein

scaffold protein TUBA

DNMBP 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
Intra DNMBP Q6XZF7 BIN3 Homo sapiens Q9NQY0
Anti Tag CoIP
18654987
Intra DNMBP Q6XZF7 BIN3 Homo sapiens Q9NQY0
Y2H
18654987
Cross DNMBP Q6XZF7 Dnm1 Rattus norvegicus P21575
Pull Down
16413298
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
Cataract 48

CTRCT48
Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction

VETD

Heterozygotes For Tbx2 Variants
Epithelial Recurrent Erosion Dystrophy

ERED

Corneal Erosions, Recurring Hereditary

Col17a1

Dystrophia Helsinglandica

Dystrophia Smolandiensis

Recurrent Hereditary Corneal Erosions

Rces

Recurrent Corneal Erosion Syndrome

Recurrent Erosion Of Cornea
Cataract 18

Cataract, Autosomal Recessive Congenital 2

Catc2

CTRCT18

Autosomal Recessive Congenital Cataract 2

Cataract 18, Autosomal Recessive

Cataract 18 Autosomal Recessive

Cataract, Type 18
Facial Neuralgia
Neurilemmoma Of The Fifth Cranial Nerve

Trigeminal Schwannoma

Trigeminal Neurilemmoma
Trigeminal Nerve Neoplasm

Neoplasm Of Trigeminal Nerve

Tumor Of Trigeminal Nerve
Renal Glucosuria

Renal Glycosuria

Familial Renal Glucosuria

GLYS

Glys1

Glycosuria, Renal

Glucosuria, Renal

Renal Diabetes

Familial Renal Glycosuria

Sglt2 Deficiency

Gly

Diabetes Renal
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-RS03907 DNMBP 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 DNMBP VGNC VGNC:106035
Bos taurus DNMBP VGNC VGNC:28144
Canis familiaris DNMBP VGNC VGNC:40035
Rattus norvegicus DNMBP RGD RGD:1583840
Mus musculus DNMBP MGD MGI:1917352
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