TXNL4A - thioredoxin like 4A Gene

Homo sapiens

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

Gene ID: 10907 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15840814	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	28781166	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
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

Recombinant TXNL4A Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77269	TXNL4A Protein, Human (His)	P83876 (M1-Y142)	≥95%

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15297	TXNL4A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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