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GAR1 GAR1 ribonucleoprotein [ Homo sapiens (human) ]

Gene ID: 54433, updated on 5-Sep-2021

Summary

Official Symbol
GAR1provided by HGNC
Official Full Name
GAR1 ribonucleoproteinprovided by HGNC
Primary source
HGNC:HGNC:14264
See related
Ensembl:ENSG00000109534 MIM:606468
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NOLA1
Summary
This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The encoded protein of this gene contains two glycine- and arginine-rich domains and is related to Saccharomyces cerevisiae Gar1p. Two splice variants have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in colon (RPKM 10.2), bone marrow (RPKM 9.6) and 25 other tissues See more
Orthologs
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Genomic context

See GAR1 in Genome Data Viewer
Location:
4q25
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (109815510..109824737)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (110736666..110745893)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene phospholipase A2 group XIIA Neighboring gene complement factor I Neighboring gene retinal pigment epithelium-derived rhodopsin homolog Neighboring gene leucine rich repeat, Ig-like and transmembrane domains 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.
GeneReviews: Not available
Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables RNA binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables box H/ACA snoRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables box H/ACA snoRNA binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables telomerase RNA binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in snoRNA guided rRNA pseudouridine synthesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in telomere maintenance via telomerase IDA
Inferred from Direct Assay
more info
PubMed 
involved_in telomere maintenance via telomerase TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
H/ACA ribonucleoprotein complex subunit 1
Names
GAR1 homolog, ribonucleoprotein
GAR1 ribonucleoprotein homolog
nucleolar protein family A member 1
nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)
snoRNP protein GAR1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_018983.4NP_061856.1  H/ACA ribonucleoprotein complex subunit 1

    See identical proteins and their annotated locations for NP_061856.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains a region of additional sequence in the 5' UTR when compared to variant 2. The encoded protein is identical for both transcript variants.
    Source sequence(s)
    AJ276003, BC003413, CN428426
    Consensus CDS
    CCDS34050.1
    UniProtKB/Swiss-Prot
    Q9NY12
    UniProtKB/TrEMBL
    A0A024RDJ3
    Related
    ENSP00000226796.6, ENST00000226796.7
    Conserved Domains (1) summary
    pfam04410
    Location:63159
    Gar1; Gar1/Naf1 RNA binding region
  2. NM_032993.2NP_127460.1  H/ACA ribonucleoprotein complex subunit 1

    See identical proteins and their annotated locations for NP_127460.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a region of sequence in the 5' UTR when compared to variant 1. The encoded protein is identical for both transcript variants.
    Source sequence(s)
    AJ276003, BC003413, CN428426
    Consensus CDS
    CCDS34050.1
    UniProtKB/Swiss-Prot
    Q9NY12
    UniProtKB/TrEMBL
    A0A024RDJ3
    Related
    ENSP00000378127.3, ENST00000394631.7
    Conserved Domains (1) summary
    pfam04410
    Location:63159
    Gar1; Gar1/Naf1 RNA binding region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    109815510..109824737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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