1. Gene
  2. NAF1 - nuclear assembly factor 1 ribonucleoprotein Gene

NAF1 - nuclear assembly factor 1 ribonucleoprotein Gene

Homo sapiens
Gene ID: 92345 | Gene type: protein coding

About NAF1

Cytogenetic location: 4q32.2 Genomic coordinates (GRCh38): 4:163,103,929-163,166,890 (from NCBI)

This gene has 6 transcripts (splice variants) and 188 orthologues. Ubiquitous expression in testis (RPKM 1.9), endometrium (RPKM 1.8) and 25 other tissues.

Summary

Enables identical protein binding activity and Telomerase RNA binding activity. Involved in regulation of nucleobase-containing compound metabolic process; ribosome biogenesis; and Telomerase holoenzyme complex assembly. Located in nucleoplasm. Part of sno(s)RNA-containing ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022]

NAF1 Products(2)

mRNA Protein Name
NM_001128931.2 NP_001122403.1 H/ACA ribonucleoprotein complex non-core subunit NAF1 isoform b
NM_138386.3 NP_612395.2 H/ACA ribonucleoprotein complex non-core subunit NAF1 isoform a
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables RNA binding IDA
IDA: Inferred from direct assay
16618814 GOA
enables RNA binding IPI
IPI: Inferred from physical interaction
18082603 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16601202 GOA
enables telomerase RNA binding IPI
IPI: Inferred from physical interaction
18082603 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of positive regulation of telomere maintenance via telomerase IMP
IMP: Inferred from mutant phenotype
27510903 GOA
acts upstream of positive regulation of telomere maintenance via telomere lengthening IMP
IMP: Inferred from mutant phenotype
27510903 GOA
involved in ribosome biogenesis IDA
IDA: Inferred from direct assay
16618814 GOA
involved in telomerase RNA stabilization IMP
IMP: Inferred from mutant phenotype
27510903 GOA
involved in telomerase holoenzyme complex assembly IMP
IMP: Inferred from mutant phenotype
27510903 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IMP
IMP: Inferred from mutant phenotype
27510903 GOA
located in nucleus IMP
IMP: Inferred from mutant phenotype
27510903 GOA
part of sno(s)RNA-containing ribonucleoprotein complex IDA
IDA: Inferred from direct assay
16601202 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

NAF1 Protein Structure

Gar1

Gar1: Gar1/Naf1 RNA binding region (179 - 329)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 494 a.a.
Protein Preferred Names Protein Names

H/ACA ribonucleoprotein complex non-core subunit NAF1

nuclear assembly factor 1 homolog

Related Diseases

Diseases Alias
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

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 NAF1 MGD MGI:2682306
Macaca mulatta NAF1 VGNC VGNC:75020
Rattus norvegicus NAF1 RGD RGD:1306802
Bos taurus NAF1 VGNC VGNC:54460
Felis catus NAF1 VGNC VGNC:63712