URB1 - URB1 ribosome biogenesis homolog Gene

Also Known as NPA1; C21orf108

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9875

About URB1

Cytogenetic location: 21q22.11 Genomic coordinates (GRCh38): 21:32,311,018-32,393,012 (from NCBI)

This gene has 3 transcripts (splice variants) and 196 orthologues. Ubiquitous expression in testis (RPKM 5.5), endometrium (RPKM 5.1) and 25 other tissues.

Summary

Enables RNA binding activity. Predicted to be involved in maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) and maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Located in fibrillar center. [provided by Alliance of Genome Resources, Apr 2022]

URB1 Products (1)

mRNA Protein Name
NM_014825.3 NP_055640.2 nucleolar pre-ribosomal-associated protein 1
Cellular Component GO Annotation Evidence References Source
located in nucleolus IDA
IDA: Inferred from direct assay
16963496 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

URB1 Protein Structure

Npa1

Npa1: Ribosome 60S biogenesis N-terminal (74 - 394)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2271 a.a.
Protein Preferred Names Protein Names

nucleolar pre-ribosomal-associated protein 1

  • URB1 ribosome biogenesis 1 homolog

Related Diseases

Diseases Alias
Tick Paralysis
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
  • Mrx12

  • Mrx35

  • X-Linked Mental Retardation 12

  • X-Linked Mental Retardation 35

Niemann-Pick Disease, Type B
  • Niemann-Pick Disease Type B

  • Acid Sphingomyelinase Deficiency, Visceral Type

  • Asmd, Visceral Type

  • Niemann Pick Disease Type B

  • Chronic Visceral Acid Sphingomyelinase Deficiency

  • Chronic Visceral Asmd

  • Npd-B

  • Niemann-Pick Disease B

  • NPDB

  • Niemann-Pick Disease Adult Non-Neuronopathic Form

  • Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression

  • Niemann-Pick Disease Type E

  • Niemann-Pick Disease Type F

  • Niemann-Pick Disease Type I

  • Niemann-Pick Disease Visceral Form

  • Npb

  • Sphingomyelinase Deficiency

  • Sphingomyelin Lipidosis

  • Niemann-Picks Disease Type B

  • Niemann-Pick Disease, Type E

  • Niemann-Pick Diseases

  • Niemann-Pick Disease, Type A

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus URB1 RGD RGD:1304621
Canis familiaris URB1 VGNC VGNC:53050
Macaca mulatta URB1 VGNC VGNC:79074
Felis catus URB1 VGNC VGNC:66851
Bos taurus URB1 VGNC VGNC:53611
Mus musculus URB1 MGD MGI:2146468
Others URB1 NCBI