1. Gene
  2. NOL6 - nucleolar protein 6 Gene

NOL6 - nucleolar protein 6 Gene

Homo sapiens

Also known as NRAP; UTP22; bA311H10.1

Gene ID: 65083 | Gene type: protein coding

About NOL6

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:33,461,353-33,473,924 (from NCBI)

Ubiquitous expression in testis (RPKM 9.6), skin (RPKM 6.9) and 25 other tissues.

Summary

The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies suggest that the protein is associated with ribosome biogenesis through an interaction with pre-rRNA primary transcripts. Alternative splicing has been observed at this locus and two splice variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

NOL6 Products(2)

mRNA Protein Name
NM_022917.5 NP_075068.2 nucleolar protein 6 isoform alpha
NM_139235.4 NP_631981.2 nucleolar protein 6 isoform gamma
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence Reference Source
involved in ribosomal small subunit biogenesis IDA
IDA: Inferred from direct assay
34516797 GOA
Cellular Component GO Annotation Evidence Reference Source
part of small-subunit processome IDA
IDA: Inferred from direct assay
34516797 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

NOL6 Protein Structure

Nrap

Nrap: Nrap protein domain 1 (165 - 1139)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1146 a.a.
Protein Preferred Names Protein Names

nucleolar protein 6

nucleolar RNA-associated protein

Related Diseases

Diseases Alias
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

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
Mus musculus NOL6 MGD MGI:2140151
Canis familiaris NOL6 VGNC VGNC:43883
Bos taurus NOL6 VGNC VGNC:32158
Macaca mulatta NOL6 VGNC VGNC:75218
Rattus norvegicus NOL6 RGD RGD:1308033
Felis catus NOL6 VGNC VGNC:63852