USB1 - U6 snRNA biogenesis phosphodiesterase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79650

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 References 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 References 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 References 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

HVSL: Uncharacterised conserved protein (44 - 264)

  • 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

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 Set / Unkown
HY-RS19396 Usb1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25888 Usb1 Rat Pre-designed siRNA Set A Pre-designed Set / 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