USB1 - U6 snRNA biogenesis phosphodiesterase 1 Gene

Homo sapiens

Also known as PN; Mpn1; HVSL1; hMpn1; hUsb1; C16orf57

Gene ID: 79650 | Gene type: protein coding

About USB1

Cytogenetic location: 16q21 Genomic coordinates (GRCh38): 16:57,999,603-58,021,618 (from NCBI)

This gene has 21 transcripts (splice variants), 195 orthologues and is associated with 4 phenotypes. Ubiquitous expression in appendix (RPKM 7.3), bone marrow (RPKM 6.0) and 25 other tissues.

Summary

This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]

USB1 Products(5)

mRNA	Protein	Name
NM_001195302.2	NP_001182231.1	U6 snRNA phosphodiesterase 1 isoform 2
NM_001204911.2	NP_001191840.1	U6 snRNA phosphodiesterase 1 isoform 3
NM_001330568.2	NP_001317497.1	U6 snRNA phosphodiesterase 1 isoform 4
NM_001330569.2	NP_001317498.1	U6 snRNA phosphodiesterase 1 isoform 5
NM_024598.4	NP_078874.2	U6 snRNA phosphodiesterase 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 3'-5'-RNA exonuclease activity	IDA IDA: Inferred from direct assay	23190533	GOA
enables poly(U)-specific exoribonuclease activity, producing 3' uridine cyclic phosphate ends	IDA IDA: Inferred from direct assay	23022480	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23022480	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in RNA splicing	IMP IMP: Inferred from mutant phenotype	22899009	GOA
involved in U6 snRNA 3'-end processing	IDA IDA: Inferred from direct assay	23190533	GOA
involved in U6 snRNA 3'-end processing	IMP IMP: Inferred from mutant phenotype	22899009	GOA
involved in snRNA 3'-end processing	IMP IMP: Inferred from mutant phenotype	26213367	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	22899009	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

USB1 Protein Structure

HVSL

0
100
200
265 a.a.

Protein Preferred Names

Protein Names

U6 snRNA phosphodiesterase 1

3'-5' RNA exonuclease USB1

Related Diseases

Diseases

Alias

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

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant	Dc
Dkc	Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita, Autosomal Dominant	Autosomal Dominant Dyskeratosis Congenita
Dkca	Dyskeratosis Congenita Scoggins Type
Zinsser-Cole-Engman Syndrome	X-Linked Dyskeratosis Congenita
Hoyeraal-Hreidarsson Syndrome

Neutropenia

Leukopenia

Calcinosis

Pathologic Calcification

Pathologically Calcified Structure

Rothmund-Thomson Syndrome, Type 2

Rothmund-Thomson Syndrome	Rts
RTS2	Poikiloderma Of Rothmund-Thomson
Rothmund-Thomson Syndrome Type 2	Congenital Poikiloderma
Poikiloderma Congenitale	Poikiloderma Atrophicans And Cataract
Poikiloderma Congenitale Of Rothmund-Thomson	Poikiloderma Of Rothmund-Thomson Type 2
Rothmund-Thomson Syndrome 2	Erythrokeratodermia Variabilis

Severe Congenital Neutropenia 5

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome	Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome
Vps45 Deficiency	Scn5

Nail Disorder, Nonsyndromic Congenital, 1

Nonsyndromic Congenital Nail Disorder 1	Twenty-Nail Dystrophy
Claw-Shaped Nails	Nail Disorder, Nonsyndromic Congenital, 10
Onycholysis	NDNC1
Onychauxis, Hyponychia, And Onycholysis	Nonsyndromic Congenital Nail Disorder 10
Idiopathic Trachyonychia	Twenty Nail Dystrophy
Ndnc10	Onychodystrophy Totalis, Isolated
Nail Disorder, Nonsyndromic Congenital, 10, Formerly	Ndnc10, Formerly
Autosomal Dominant Nail Dysplasia	Nail Disorder, Nonsyndromic Congenital 1
Onychodystrophy Totalis	Sandpaper Nails
Trachyonychia	Nail Disorder, Non-Syndromic Congenital, 1
Nail Disorder, Non-Syndromic Congenital, 10	Onychauxis Hyponychia And Onycholysis
Nail Disorder, Nonsyndromic Congenital, Type 10	Detachment Of Nail
Separation Of Nail Plate

Severe Congenital Neutropenia 7

Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency

Scn7

Cyclic Neutropenia

Cyclic Hematopoiesis	Cyclical Neutropenia
Neutropenia Cyclic	Cyclic Hematopoesis
Neutropenia, Cyclic	Cyclic Agranulocytosis
Neutropenia, Periodic	Cyclic Leucopenia
Periodic Neutropenia	Cyclic Haematopoiesis
CH	Hematopoiesis, Cyclic
Neutropenia, Cyclical

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15511	USB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS19396	Usb1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS25888	Usb1 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	USB1	VGNC	VGNC:79543
Mus musculus	USB1	MGD	MGI:2142454
Rattus norvegicus	USB1	RGD	RGD:1305215
Canis familiaris	USB1	VGNC	VGNC:53480
Bos taurus	USB1	VGNC	VGNC:36703
Felis catus	USB1	VGNC	VGNC:66858
Others	USB1	NCBI

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