2. Gene
  3. TGM5 - transglutaminase 5 Gene

TGM5 - transglutaminase 5 Gene

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

中文名称：转谷氨酰胺酶 5

种属: Homo sapiens

同用名: TGX; PSS2; TGM6; TGMX; TG(X); TGASE5; TGASEX

基因 ID: 9333 | 基因类型: protein coding

关于 TGM5

Cytogenetic location: 15q15.2 Genomic coordinates (GRCh38): 15:43,232,590-43,266,928 (from NCBI)

This gene has 5 transcripts (splice variants), 128 orthologues, 8 paralogues and is associated with 3 phenotypes. Biased expression in skin (RPKM 7.6), esophagus (RPKM 3.4) and 1 other tissue.

功能概要

该基因编码转谷氨酰胺酶家族的一个成员。编码的蛋白质催化谷氨酰胺和赖氨酸残基之间蛋白质交联的形成，通常导致蛋白质组装稳定。该反应是钙依赖性的。该基因的突变与肢端皮肤脱皮综合征有关。[RefSeq 提供，2009 年 10 月]

This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]

TGM5 基因产物(2)

mRNA Protein Name
NM_004245.4 NP_004236.1 protein-glutamine gamma-glutamyltransferase 5 isoform 2
NM_201631.4 NP_963925.2 protein-glutamine gamma-glutamyltransferase 5 isoform 1

TGM5 蛋白结构

Transglut_N

Transglut_N: Transglutaminase family (5 - 122)

Transglut_core

Transglut_core: Transglutaminase-like superfamily (273 - 361)

Transglut_C

Transglut_C: Transglutaminase family, C-terminal ig like domain (507 - 602)

Transglut_C

Transglut_C: Transglutaminase family, C-terminal ig like domain (620 - 716)

  • 0
  • 200
  • 400
  • 600
  • 720 a.a.
蛋白主名 其他名称

protein-glutamine gamma-glutamyltransferase 5

TGase X

TGM5 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 TGM5 O43548 GRB7 Homo sapiens Q14451-3
Validated Y2H
32296183
Intra TGM5 O43548 LARP4 Homo sapiens Q6P4E2
Validated Y2H
32296183
Intra TGM5 O43548 KANK2 Homo sapiens Q63ZY3
Validated Y2H
32296183
Intra TGM5 O43548 LGALS7 Homo sapiens P47929
Validated Y2H
32296183
Intra TGM5 O43548 RBM41 Homo sapiens Q96IZ5
Validated Y2H
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
Peeling Skin Syndrome 2

Acral Peeling Skin Syndrome

Peeling Skin Syndrome, Acral Type

Apss

PSS2

Acral Pss

Acral Deciduous Skin

Localized Pss

Localized Deciduous Skin

Peeling Skin Syndrome Type A

Skin, Peeling, Syndrome, Type 2
Peeling Skin Syndrome 1

Deciduous Skin

PSS1

Keratolysis Exfoliativa Congenita

Peeling Skin Syndrome Type B

Pss

Skin Peeling, Familial Continuous Generalized

Generalized Deciduous Skin Type B

Generalized Peeling Skin Syndrome Type B

Inflammatory Peeling Skin Syndrome

Pss Type B

Skin Peeling Familial Continuous Generalized

Skin, Peeling, Syndrome, Type 1

Peeling Skin Syndrome
Peeling Skin Syndrome

Deciduous Skin

Familial Continuous Skin Peeling Syndrome

Idiopathic Deciduous Skin

Keratosis Exfoliativa Congenita

Pss

Peeling Skin Disease

Skin Peeling Syndrome

Familial Continuous Skin Peeling

Keratolysis Exfoliativa Congenita

Exfoliation Syndrome

Keratolysis Exfoliativa
Spinocerebellar Ataxia 35

Spinocerebellar Ataxia Type 35

SCA35

Ataxia, Spinocerebellar, Type 35
Epidermolysis Bullosa Simplex

Ebs

Epidermolysis Bullosa Intraepidermic

Epidermolytic Epidermolysis Bullosa
Epidermolysis Bullosa

Acantholysis Bullosa

Eb
Spinocerebellar Ataxia, Autosomal Recessive 17

Autosomal Recessive Spinocerebellar Ataxia 17

SCAR17

Autosomal Recessive Cerebellar Ataxia Due To Cwf19l1 Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 17

Spinocerebellar Ataxia, Autosomal Recessive, 17

Ataxia, Spinocerebellar, Autosomal Recessive, Type 17
Complement Component 2 Deficiency

C2D

C2 Deficiency

Complement 2 Deficiency

Complement Component-2
Spinocerebellar Ataxia 30

Spinocerebellar Ataxia Type 30

SCA30

Cerebellar Ataxia Early-Onset Nonprogressive

Spinocerebellar Ataxia 29

Acv

Aplasia Of Cerebellar Vermis

Cerebellar Vermis Aplasia

Congenital Nonprogressive Spinocerebellar Ataxia

Sca29

Spinocerebellar Ataxia Type 29
Transient Global Amnesia

Amnesia, Transient Global
Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis
Epidermolysis Bullosa Simplex 1a, Generalized Severe

Epidermolysis Bullosa Simplex, Dowling-Meara Type

Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type

EBS1A

Ebsdm

Epidermolysis Bullosa Simplex Dowling-Meara Type

Epidermolysis Bullosa Simplex, Herpetiformis

Ebs-Dm

Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type

Ebs-Gen Sev

Epidermolysis Bullosa Herpetiformis Dowling-Meara Type

Generalized Severe Epidermolysis Bullosa Simplex

Dowling-Meara Type Epidermolysis Bullosa Simplex

Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form

Autosomal Dominant Generalized Ebs, Severe Form

Epidermolysis Bullosa Simplex Herpetiformis

Dm-Ebs

Epidermolysis Bullosa Simplex, Generalized Severe

Epidermolysis Bullosa Herpetiformis, Dowling-Meara

Epidermolysis Bullosa Herpetiformis Dowling-Meara
Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis

Congenital Ichthyosiform Erythroderma

Li

Congenital Nonbullous Ichthyosiform Erythroderma

Arci

Congenital Lamellar Ichthyosis

Nonbullous Congenital Ichthyosiform Erythroderma

Cie

Congenital Non-Bullous Ichthyosiform Erythroderma

Erythrodermic Ichthyosis

Nbcie

Ncie

Non-Bullous Congenital Ichthyosiform Erythroderma

Collodion Baby

Ichthyosis, Lamellar

Non Bullous Congenital Ichthyosiform Erythroderma

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Collodion Baby Syndrome

Ichthyoses, Lamellar

Nbie

Nonbullous Ichthyosiform Erythroderma

Classic Lamellar Ichthyosis

Ichthyosiform Erythroderma Nonbullous Congenital

Ichthyosiform Erythroderma Congenital

Ichthyosis, Congenital, Autosomal Recessive

Ichthyosiform Erythroderma, Congenital

Collodion Fetus

Non-Bullous Ichthyosiform Erythroderma
Pachyonychia Congenita 1

Pachyonychia Congenita

Jadassohn-Lewandowsky Syndrome

Pachyonychia Congenita Syndrome

PC1

Pachyonychia Congenita, Jadassohn-Lewandowsky Type

Congenital Pachyonychia

Pachyonychia Congenita, Type 1

Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly

Jadassohn-Lewandowsky Syndrome, Formerly

Jackson-Lawler Type Pachyonychia Congenita

Pachyonychia Congenita Type 1

Jackson-Lawler Syndrome

Jadassohn-Lewandowski Syndrome

Pc

Pachyonychia Congenita Jackson-Lawler Type

Pachyonychia Congenita Jadassohn-Lewandowsky Type

Pachyonychia Congenita Jackson Lawler Type

Pc-1

Pachyonychia Congenita, Jadassohn Lewandowsky Type

Pachyonychia Congenita, Type 2
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-RS14462 TGM5 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 TGM5 VGNC VGNC:78341
Felis catus TGM5 VGNC VGNC:66143
Mus musculus TGM5 MGD MGI:1921426
Bos taurus TGM5 VGNC VGNC:35812
Rattus norvegicus TGM5 RGD RGD:1593350
Canis familiaris TGM5 VGNC VGNC:47318
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