2. Gene
  3. TMX3 - thioredoxin related transmembrane protein 3 Gene

TMX3 - thioredoxin related transmembrane protein 3 Gene

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

中文名称：硫氧还蛋白相关跨膜蛋白 3

种属: Homo sapiens

同用名: PDIA13; TXNDC10

基因 ID: 54495 | 基因类型: protein coding

关于 TMX3

Cytogenetic location: 18q22.1 Genomic coordinates (GRCh38): 18:68,673,688-68,715,108 (from NCBI)

This gene has 14 transcripts (splice variants), 275 orthologues and 13 paralogues. Ubiquitous expression in appendix (RPKM 11.6), lymph node (RPKM 10.9) and 25 other tissues.

功能概要

该基因编码内质网 (ER) 蛋白二硫化物异构酶 (PDI) 家族的成员，该蛋白催化蛋白质折叠和硫醇-二硫化物交换反应。由该基因编码的典型蛋白具有一个 N 端 ER 信号序列、一个具有催化活性的硫氧还蛋白结构域、一个跨膜结构域和一个 C 端 ER 保留序列。该基因在许多组织中表达，但在心脏和骨骼肌中表达最高。它在发育中的小鼠眼睛的视网膜神经上皮和晶状体上皮中表达，人类和斑马鱼中该基因的单倍体不足与小眼病有关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2017 年 4 月]

This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]

TMX3 基因产物(7)

mRNA Protein Name
NM_001350512.2 NP_001337441.1 protein disulfide-isomerase TMX3 isoform 2 precursor
NM_001350513.2 NP_001337442.1 protein disulfide-isomerase TMX3 isoform 3 precursor
NM_001350514.2 NP_001337443.1 protein disulfide-isomerase TMX3 isoform 4 precursor
NM_001350515.2 NP_001337444.1 protein disulfide-isomerase TMX3 isoform 5
NM_001350516.2 NP_001337445.1 protein disulfide-isomerase TMX3 isoform 5
NM_001350517.2 NP_001337446.1 protein disulfide-isomerase TMX3 isoform 5
NM_019022.5 NP_061895.3 protein disulfide-isomerase TMX3 isoform 1 precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables protein-disulfide reductase activity IDA
IDA: 通过直接分析推断
15623505 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
19995400 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
15623505 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

TMX3 蛋白结构

Thioredoxin

Thioredoxin: Thioredoxin (32 - 127)

Thioredoxin_6

Thioredoxin_6: Thioredoxin-like domain (160 - 338)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 454 a.a.
蛋白主名 其他名称

protein disulfide-isomerase TMX3

protein disulfide isomerase family A, member 13

TMX3 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
TMX3 Q96JJ7 FHL3 Homo sapiens Q13643
Validated Y2H
25416956
种属内
TMX3 Q96JJ7 FHL3 Homo sapiens Q13643
Y2H Prey Pooling
25416956
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
Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Xylosylprotein 4-Beta-Galactosyltransferase Deficiency

Xgpt Deficiency

EDSSPD1

Ehlers-Danlos Syndrome With Short Stature And Limb Anomalies

Edssla

Proteodermatan Sulfate, Defective Biosynthesis Of

Pds, Defective Biosynthesis Of

Dermatan Sulfate Proteoglycan

Galactosyltransferase I Deficiency

Ehlers-Danlos Syndrome Spondylodysplastic Type 1

Spondylodysplastic Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome, Progeroid Type, 1, Formerly

Edsp1, Formerly

Ehlers-Danlos Syndrome, Progeroid Type

Galactosyltransferase 1 Deficiency

Spondylodysplastic Eds

Speds

Defective Biosynthesis Of Pds

Defective Biosynthesis Of Proteodermatan Sulfate

Edsp1

Ehlers-Danlos Syndrome, Progeroid Type, 1

Proteodermatan Sulfate Defective Biosynthesis Of

Ehlers-Danlos, Spondylodysplastic Syndrome

Ehlers-Danlos Syndrome, Progeroid Form
Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect
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-RS14781 TMX3 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 TMX3 MGD MGI:2442418
Macaca mulatta TMX3 VGNC VGNC:79451
Rattus norvegicus TMX3 RGD RGD:1592777
Bos taurus TMX3 VGNC VGNC:36151
Felis catus TMX3 VGNC VGNC:66395
Canis familiaris TMX3 VGNC VGNC:47644
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