GAR1 (GAR1 ribonucleoprotein)

2014-11-01  

Identity

HGNC
LOCATION
4q25
LOCUSID
ALIAS
NOLA1

Other Information

Locus ID:

NCBI: 54433
MIM: 606468
HGNC: 14264
Ensembl: ENSG00000109534

Variants:

dbSNP: 54433
ClinVar: 54433
TCGA: ENSG00000109534
COSMIC: GAR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109534ENST00000226796Q9NY12
ENSG00000109534ENST00000226796A0A024RDJ3
ENSG00000109534ENST00000394631Q9NY12
ENSG00000109534ENST00000394631A0A024RDJ3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008
H/ACA ribonucleoprotein complexKEGGhsa_M00425
H/ACA ribonucleoprotein complexKEGGM00425
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
rRNA modification in the nucleus and cytosolREACTOMER-HSA-6790901
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
179033012007Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.50
199176162010The box H/ACA ribonucleoprotein complex: interplay of RNA and protein structures in post-transcriptional RNA modification.38
237070622013H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.35
203320992010A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.8
189898822009NOLA1 gene mutations in acquired aplastic anemia.3
189898822009NOLA1 gene mutations in acquired aplastic anemia.3

Citation

Dessen P

GAR1 (GAR1 ribonucleoprotein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63699/gar1