TXNL4A - thioredoxin like 4A Gene

Also Known as BMKS; DIB1; DIM1; TXNL4; SNRNP15; U5-15kD

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 10907

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	15840814	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	28781166	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
part of U2-type precatalytic spliceosome	IDA IDA: Inferred from direct assay	28781166	GOA
part of U4/U6 x U5 tri-snRNP complex	IDA IDA: Inferred from direct assay	26912367	GOA
part of U4/U6 x U5 tri-snRNP complex	IPI IPI: Inferred from physical interaction	30975767	GOA
located in nucleus	IDA IDA: Inferred from direct assay	26912367	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TXNL4A Protein Structure

DIM1

0
100
142 a.a.

Protein Preferred Names	Protein Names
thioredoxin-like protein 4A	DIM1 protein homolog

TXNL4A Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	TXNL4A	P83876	PRPF6	Homo sapiens	O94906	Anti Tag CoIP	33961781
Intra	TXNL4A	P83876	PRPF6	Homo sapiens	O94906	Y2H	16723661
Intra	TXNL4A	P83876	PRPF6	Homo sapiens	O94906	Anti Tag CoIP	16723661
Intra	TXNL4A	P83876	LZTS2	Homo sapiens	Q9BRK4	Y2H Array	25416956
Intra	TXNL4A	P83876	DDIT4L	Homo sapiens	Q96D03	Validated Y2H	32296183
Intra	TXNL4A	P83876	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183
Intra	TXNL4A	P83876	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	TXNL4A	P83876	CD2BP2	Homo sapiens	O95400	Y2H	15840814
Intra	TXNL4A	P83876	CD2BP2	Homo sapiens	O95400	Anti Tag CoIP	33961781
Intra	TXNL4A	P83876	CD2BP2	Homo sapiens	O95400	Pull Down	15840814
Intra	TXNL4A	P83876	EXOC5	Homo sapiens	O00471	Validated Y2H	25416956
Intra	TXNL4A	P83876	EXOC5	Homo sapiens	O00471	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TXNL4A Proteins

製品番号	製品名	アクセッション番号	純度
HY-P77269	TXNL4A Protein, Human (His)	P83876 (M1-Y142)	≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS15297	TXNL4A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20202	Txnl4a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26706	Txnl4a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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