2. Gene
  3. TXNL4A - thioredoxin like 4A Gene

TXNL4A - thioredoxin like 4A Gene

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

中文名称：硫氧还蛋白样 4A

种属: Homo sapiens

同用名: BMKS; DIB1; DIM1; TXNL4; SNRNP15; U5-15kD

基因 ID: 10907 | 基因类型: protein coding

关于 TXNL4A

Cytogenetic location: 18q23 Genomic coordinates (GRCh38): 18:79,970,813-80,033,936 (from NCBI)

This gene has 12 transcripts (splice variants), 106 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 13.4), testis (RPKM 11.6) and 25 other tissues.

功能概要

该基因编码的蛋白质是 U5 小核糖核蛋白颗粒 (snRNP) 的成员，参与 pre-mRNA 剪接。这种蛋白质含有硫氧还蛋白样折叠，预计会与多种蛋白质相互作用。已观察到聚谷氨酰胺束结合蛋白 1 (PQBP1) 的蛋白质-蛋白质相互作用。该基因编码区和启动子区的突变与 Burn-McKeown 综合征有关，这是一种罕见的疾病，其特征是颅面畸形、心脏缺陷、听力损失和双侧后鼻孔闭锁。在 2 号染色体上发现了该基因的假基因。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 3 月]

The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]

TXNL4A 基因产物(5)

mRNA Protein Name
NM_001303471.3 NP_001290400.1 thioredoxin-like protein 4A isoform 2
NM_001305557.2 NP_001292486.1 thioredoxin-like protein 4A isoform 3
NM_001305563.2 NP_001292492.1 thioredoxin-like protein 4A isoform 4
NM_001305564.2 NP_001292493.1 thioredoxin-like protein 4A isoform 4
NM_006701.5 NP_006692.1 thioredoxin-like protein 4A 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 protein binding IPI
IPI: 通过物理相互作用推断
15840814 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
28781166 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of U2-type precatalytic spliceosome IDA
IDA: 通过直接分析推断
28781166 GOA
part of U4/U6 x U5 tri-snRNP complex IDA
IDA: 通过直接分析推断
26912367 GOA
part of U4/U6 x U5 tri-snRNP complex IPI
IPI: 通过物理相互作用推断
30975767 GOA
located in nucleus IDA
IDA: 通过直接分析推断
26912367 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

TXNL4A 蛋白结构

DIM1

DIM1: Mitosis protein DIM1 (4 - 136)

  • 0
  • 100
  • 142 a.a.
蛋白主名 其他名称

thioredoxin-like protein 4A

DIM1 protein homolog

重组 TXNL4A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77269 TXNL4A Protein, Human (His) P83876 (M1-Y142) ≥95%

关联疾病

疾病名称 别名
Burn-Mckeown Syndrome

Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome

Oculootofacial Dysplasia

BMKS

Oofd

Bilateral Choanal Atresia, Cardiac Defects, Deafness, And Dysmorphic Appearance

Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome

Choanal Atresia Deafness Cardiac Defects Dysmorphism

Oculo-Oto-Facial Dysplasia
Mandibulofacial Dysostosis, Guion-Almeida Type

Mandibulofacial Dysostosis With Microcephaly

Mandibulofacial Dysostosis-Microcephaly Syndrome

MFDGA

MFDM

Mfdm Syndrome

Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate

Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate

Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome

Dysostosis, Mandibulofacial, Guion-Almeida Type
Renpenning Syndrome 1

Renpenning Syndrome

Golabi-Ito-Hall Syndrome

Mrxs3

Mrxs8

X-Linked Intellectual Disability Due To Pqbp1 Mutations

RENS1

Sutherland-Haan X-Linked Mental Retardation Syndrome

Shs

Mrx55

X-Linked Intellectual Disability, Renpenning Type

Sutherland-Haan Syndrome

Mental Retardation, X-Linked, Renpenning Type

Mental Retardation, X-Linked, With Spastic Diplegia

Mental Retardation, X-Linked, Syndromic 3

Mental Retardation, X-Linked, Syndromic 8

Mental Retardation, X-Linked 55

Syndromic X-Linked Mental Retardation 8

X-Linked Mental Retardation Renpenning Type

X-Linked Mental Retardation With Spastic Diplegia

Sutherland-Haan X-Linked Intellectual Disability Syndrome

X-Linked Intellectual Disability With Spastic Diplegia

Hamel Cerebropalatocardiac Syndrome

Porteous Syndrome

X-Linked Intellectual Deficit Due To Pqbp1 Mutations

X-Linked Intellectual Deficit, Renpenning Type

X-Linked Intellectual Disability, Sutherland-Haan Type

Hamel Cerebro-Palato-Cardiac Syndrome

Renpenning Syndrome, Type 1
Acrofacial Dysostosis 1, Nager Type

Nager Syndrome

Nager Acrofacial Dysostosis

AFD1

Preaxial Acrofacial Dysostosis

Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies

Afd, Nager Type

Nager Acrofacial Dysostosis Syndrome

Nafd

Acrofacial Dysostosis, Nager Type

Afd

Preaxial Manibulofacial Dysostosis

Split Hand Deformity-Mandibulofacial Dysostosis

Preaxial Mandibulofacial Dysostosis

Mandibulofacial Dysostosis With Preaxial Limb Anomalies

Preaxial Acrodysostosis

Afd Nager Type

Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies
Acrofacial Dysostosis
Choanal Atresia, Posterior

Choanal Atresia

Atresia Of Nares

Posterior Choanal Atresia

PCA

Imperforate Nares

Choanal Fusion

Congenital Stenosis Of Nares

Congenital Stenosis Of Choanae

Nasal Atresia Nos
Cerebrocostomandibular Syndrome

Cerebro-Costo-Mandibular Syndrome

CCMS

Rib Gap Defects With Micrognathia

Ccm Syndrome
Poikiloderma With Neutropenia

Poikiloderma With Neutropenia, Clericuzio Type

PN

Clericuzio Type Poikiloderma With Neutropenia

Poikiloderma With Neutropenia, Clericuzio-Type

Clericuzio-Type Poikiloderma With Neutropenia

Poikiloderma With Neutropenia Clericuzio Type

Immune-Deficient Poikiloderma

Clericuzio-Type Poikiloderma Neutropenia Syndrome

Poikiloderma With Neutropenia Clericuzio-Type

Poikiloderma, With Neutropenia
Cleft Soft Palate

Cleft Velum

Cleft Velum Palatinum

Soft Cleft Palate

Soft Palate Perforation
Treacher Collins Syndrome 1

Treacher Collins Syndrome

Mandibulofacial Dysostosis

Treacher Collins-Franceschetti Syndrome

Tcof

Tcs

Mfd1

Franceschetti-Klein Syndrome

TCS1

Franceschetti Syndrome

Franceschetti-Zwahlen-Klein Syndrome

Zygoauromandibular Dysplasia

Treacher-Collins Syndrome

Mandibulofacial Dysostosis Without Limb Anomalies

Bilateral And Symmetric Oto-Mandibular Dysplasia
Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability
Syndromic Intellectual Disability
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
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-RS15297 TXNL4A 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 TXNL4A VGNC VGNC:79855
Bos taurus TXNL4A VGNC VGNC:36543
Canis familiaris TXNL4A VGNC VGNC:48019
Mus musculus TXNL4A MGD MGI:1351613
Rattus norvegicus TXNL4A RGD RGD:6492735
Felis catus TXNL4A VGNC VGNC:66732
Others TXNL4A NCBI
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