2. Gene
  3. DMTN - dematin actin binding protein Gene

DMTN - dematin actin binding protein Gene

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

中文名称：肌动蛋白结合蛋白

种属: Homo sapiens

同用名: DMT; EPB49

基因 ID: 2039 | 基因类型: protein coding

关于 DMTN

Cytogenetic location: 8p21.3 Genomic coordinates (GRCh38): 8:22,048,931-22,082,525 (from NCBI)

This gene has 23 transcripts (splice variants), 251 orthologues and 3 paralogues. Broad expression in brain (RPKM 41.4), bone marrow (RPKM 23.9) and 18 other tissues.

功能概要

该基因编码的蛋白质是一种肌动蛋白结合和成束蛋白，通过以磷酸化依赖性方式稳定血影蛋白/肌动蛋白细胞骨架并将其附着到红细胞膜上，在红细胞中发挥结构性作用。该蛋白质在 N 末端包含一个核心结构域，在 C 末端包含一个结合 F 肌动蛋白的头饰结构域。当从红细胞中纯化时，该蛋白质以由两个 48 kDa 多肽和一个 52 kDa 多肽组成的三聚体形式存在。不同的亚基来自 3' 编码区的可变剪接，耳机域位于此处。该基因的破坏与常染色体显性 Marie Unna 遗传性少毛症相关，而该基因的杂合性缺失被认为在前列腺癌进展中起作用。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2014 年 11 月]

The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin Cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate Cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]

DMTN 基因产物(53)

mRNA Protein Name
NM_001114135.5 NP_001107607.1 dematin isoform 1
NM_001114136.3 NP_001107608.1 dematin isoform 1
NM_001114137.4 NP_001107609.1 dematin isoform 2
NM_001114138.3 NP_001107610.1 dematin isoform 2
NM_001114139.4 NP_001107611.1 dematin isoform 3
NM_001302816.3 NP_001289745.1 dematin isoform 2
NM_001302817.3 NP_001289746.1 dematin isoform 4
NM_001323378.2 NP_001310307.1 dematin isoform 1
NM_001323379.2 NP_001310308.1 dematin isoform 1
NM_001323380.2 NP_001310309.1 dematin isoform 1
NM_001323381.2 NP_001310310.1 dematin isoform 1
NM_001323382.2 NP_001310311.1 dematin isoform 1
NM_001323383.2 NP_001310312.1 dematin isoform 2
NM_001323384.2 NP_001310313.1 dematin isoform 2
NM_001323385.2 NP_001310314.1 dematin isoform 2
NM_001323387.2 NP_001310316.1 dematin isoform 3
NM_001323388.2 NP_001310317.1 dematin isoform 4
NM_001323389.2 NP_001310318.1 dematin isoform 5
NM_001323390.2 NP_001310319.1 dematin isoform 5
NM_001323391.2 NP_001310320.1 dematin isoform 6
NM_001323392.2 NP_001310321.1 dematin isoform 6
NM_001323393.2 NP_001310322.1 dematin isoform 6
NM_001323394.2 NP_001310323.1 dematin isoform 6
NM_001323395.2 NP_001310324.1 dematin isoform 6
NM_001323396.2 NP_001310325.1 dematin isoform 6
NM_001323397.2 NP_001310326.1 dematin isoform 6
NM_001323398.2 NP_001310327.1 dematin isoform 7
NM_001323399.2 NP_001310328.1 dematin isoform 7
NM_001323400.2 NP_001310329.1 dematin isoform 7
NM_001323401.2 NP_001310330.1 dematin isoform 7
NM_001387723.1 NP_001374652.1 dematin isoform 6
NM_001387726.1 NP_001374655.1 dematin isoform 2
NM_001387727.1 NP_001374656.1 dematin isoform 1
NM_001387728.1 NP_001374657.1 dematin isoform 2
NM_001387730.1 NP_001374659.1 dematin isoform 1
NM_001387732.1 NP_001374661.1 dematin isoform 1
NM_001387734.1 NP_001374663.1 dematin isoform 2
NM_001387735.1 NP_001374664.1 dematin isoform 1
NM_001387736.1 NP_001374665.1 dematin isoform 3
NM_001387737.1 NP_001374666.1 dematin isoform 8
NM_001387742.1 NP_001374671.1 dematin isoform 2
NM_001387743.1 NP_001374672.1 dematin isoform 5
NM_001387744.1 NP_001374673.1 dematin isoform 4
NM_001387745.1 NP_001374674.1 dematin isoform 8
NM_001387750.1 NP_001374679.1 dematin isoform 1
NM_001387751.1 NP_001374680.1 dematin isoform 1
NM_001387752.1 NP_001374681.1 dematin isoform 3
NM_001387753.1 NP_001374682.1 dematin isoform 1
NM_001387754.1 NP_001374683.1 dematin isoform 4
NM_001387755.1 NP_001374684.1 dematin isoform 2
NM_001387756.1 NP_001374685.1 dematin isoform 3
NM_001387757.1 NP_001374686.1 dematin isoform 3
NM_001978.5 NP_001969.2 dematin isoform 1
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 binding IDA
IDA: 通过直接分析推断
19241372 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18347014 GOA
enables signaling receptor binding IDA
IDA: 通过直接分析推断
18347014 GOA
enables spectrin binding IDA
IDA: 通过直接分析推断
22927433 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin filament bundle assembly IDA
IDA: 通过直接分析推断
19241372 GOA
involved in cellular response to cAMP IDA
IDA: 通过直接分析推断
22927433 GOA
involved in protein-containing complex assembly IDA
IDA: 通过直接分析推断
18347014 GOA
involved in regulation of actin cytoskeleton organization IDA
IDA: 通过直接分析推断
22927433 GOA
involved in regulation of cell shape IMP
IMP: 通过突变表型推断
10565303 GOA
involved in regulation of filopodium assembly IMP
IMP: 通过突变表型推断
10565303 GOA
involved in regulation of lamellipodium assembly IMP
IMP: 通过突变表型推断
10565303 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in actin filament IDA
IDA: 通过直接分析推断
22927433 GOA
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
18347014 GOA
located in cytosol IDA
IDA: 通过直接分析推断
23060452 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
23060452 GOA
located in platelet dense tubular network membrane IDA
IDA: 通过直接分析推断
23060452 GOA
located in spectrin-associated cytoskeleton IDA
IDA: 通过直接分析推断
22927433 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

DMTN 蛋白结构

VHP

VHP: Villin headpiece domain (370 - 405)

  • 0
  • 100
  • 200
  • 300
  • 405 a.a.
蛋白主名 其他名称

dematin

erythrocyte membrane protein band 4.9 (dematin)

DMTN 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 DMTN Q08495 TEX11 Homo sapiens Q8IYF3-3
Y2H Prey Pooling
32296183
Intra DMTN Q08495 TEX11 Homo sapiens Q8IYF3-3
Validated Y2H
32296183
Intra DMTN Q08495 TEX11 Homo sapiens Q8IYF3-3
Y2H Array
32296183
Intra DMTN Q08495 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
32296183
Intra DMTN Q08495 TRAF2 Homo sapiens Q12933
Validated Y2H
32296183
Intra DMTN Q08495 TRAF2 Homo sapiens Q12933
Y2H Array
32296183
Intra DMTN Q08495 GOLGA2 Homo sapiens Q08379
Validated Y2H
25416956
Intra DMTN Q08495 CEP76 Homo sapiens Q8TAP6
Validated Y2H
32296183
Intra DMTN Q08495 CEP76 Homo sapiens Q8TAP6
Y2H Array
32296183
Intra DMTN Q08495 CEP76 Homo sapiens Q8TAP6
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
Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic
Hypotrichosis
Malaria

Malaria, Susceptibility To

Malaria, Resistance To

Malaria, Cerebral

Cerebral Malaria

Malaria, Severe, Susceptibility To

Malaria, Severe, Resistance To

Malaria, Cerebral, Susceptibility To

Induced Malaria

Malaria, Vivax, Protection Against

Malaria, Severe

Malaria, Cerebral, Reduced Risk Of

Malaria, Protection Against

Resistance To Malaria Due To G6pd Deficiency

Malaria Due To G6pd Deficiency

Malarial Encephalitis

CM

Malaria Cerebral

Susceptibility To Malaria

Acute Pernicious Fever

Aestivo-Autumnal Fever

Aestivo Autumnal Malaria

Chagres Fever

Continued Malaria Fever

Estivo-Autumnal Fever

Estivo-Autumnal Malaria

Estivo-Autumnal Malarial Fever

Falciparum Fever

Malignant Tertian Fever

Malignant Tertian Malaria

Pernicious Intermittent Fever

Pernicious Malaria

Quotidian Malaria

Subtertian Fever

Subtertian Malaria Fever

Subtertian Malignant Tertian Malaria

Tropical Malaria

Algid Malaria

Bilious Haemoglobinuric Fever

Black Water Fever

Blackwater Fever

Malarial Blackwater Fever

Severe Malarial Falciparum

West African Fever

Malarial Haematinuria

Haemoglobinuric Fever

Haemoglobinuric Malaria

Severe Plasmodium Falciparum Malaria

Malarial Haemoglobinuria

Malarial Haematuria

Falciparum Malaria [Malignant Tertian]

Malaria Tropica

Malarial Shock

Chagres Virus Disease

Malignant Malaria

Mtm - [Malignant Tertian Malaria]

Tm -[Malignant Tertian Malaria]

Panama Fever

St - [Subtertian Malaria]

Malarial Quotidian

Benign Tertian Malaria

Tertian Ague

Vivax Fever

Plasmodium Vivax Malaria Nos

Btm - [Benign Tertian Malaria]

Bt - [Benign Tertian Malaria]

Vivax Malaria

Benign Tertian Vivax Malaria

Tertian Malaria

Quartan Malaria

Quartan Ague

Quartan Fever

Plasmodium Malariae Malaria Nos

Quartan Malarial

Malaria By Plasmodium Malariae

Malariae Malaria

Ovale Tertian Malaria

Plasmodium Ovale Fever

Malaria Fever By Plasmodium Ovale

Ovale Malaria

Malaria By Plasmodium Ovale

Malarial Ovale

Marsh Fever

Remittent Congestive Fever

Coastal Fever

Remittent Gastric Fever

Miasmatic Fever

Congestive Remittent Fever

Intermittent Fever

Jungle Fever

Paludism

Cameroon Fever

Ague

Corsican Fever

Intermittent Bilious Fever

Disease Due To Plasmodiidae

Malarial Fever

Plasmodiosis

Remittent Fever

Roman Fever

Malaria Fever Nos

Malaria Nos

Paludal Fever

Clinically Diagnosed Malaria

Clinically Diagnosed Malaria Without Parasitological Confirmation

Congestive Fever

Malarial Cachexia

Marsh Cachexia

Paludal Cachexia

Recurrent Malaria

Remittent Malaria
Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect
Hereditary Elliptocytosis

Congenital Elliptocytosis

Ovalocytosis

Elliptocytosis, Hereditary

He

Elliptocytosis Hereditary

Congenital Ovalocytosis

Elliptocytosis

Hereditary Elliptocytosis With Infantile Poikilocytosis

Hereditary Ovalocytosis

Oval Erythrocytosis

He - [Hereditary Elliptocytosis]

Elliptocytosis Anaemia
Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer
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-RS03834 DMTN 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 DMTN VGNC VGNC:72032
Bos taurus DMTN VGNC VGNC:56943
Canis familiaris DMTN VGNC VGNC:40005
Mus musculus DMTN MGD MGI:99670
Felis catus DMTN VGNC VGNC:61533
Rattus norvegicus DMTN RGD RGD:1311419
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