GAR1

Protein identityUniProt · HPA

UniProt accession

Q9NY12

Gene

GAR1

Ensembl

ENSG00000109534

Chromosome

4

Canonical length

217 aa

Protein class

Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nucleoli fibrillar center

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

217 residues, UniProt reviewed canonical sequence.

>Q9NY12|GAR1
     1  MSFRGGGRGG FNRGGGGGGF NRGGSSNHFR GGGGGGGGGN FRGGGRGGFG RGGGRGGFNK
    61  GQDQGPPERV VLLGEFLHPC EDDIVCKCTT DENKVPYFNA PVYLENKEQI GKVDEIFGQL
   121  RDFYFSVKLS ENMKASSFKK LQKFYIDPYK LLPLQRFLPR PPGEKGPPRG GGRGGRGGGR
   181  GGGGRGGGRG GGFRGGRGGG GGGFRGGRGG GFRGRGH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GAR1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.57

Highest tissue expression

30 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.69

gnomAD pLI

0.1

gnomAD missense Z

0.23

DepMap mean gene effect

-0.61

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• snoRNA guided rRNA pseudouridine synthesis
• telomere maintenance via telomerase

Molecular functions

• box H/ACA snoRNA binding
• RNA binding
• telomerase RNA binding

Cellular components

• box H/ACA scaRNP complex
• box H/ACA snoRNP complex
• box H/ACA telomerase RNP complex
• chromosome, telomeric region
• fibrillar center
• nucleoplasm
• telomerase holoenzyme complex

Protein domainsUniProt · Pfam · InterPro

• H/ACA ribonucleoprotein complex, subunit Gar1/Naf1
• Translation protein, beta-barrel domain superfamily
• H/ACA RNP complex subunit Gar1/Naf1, Cbf5-binding domain
• Gar1/Naf1 RNA binding region

KeywordsUniProt

• Isopeptide bond
• Nucleus
• Repeat
• Ribonucleoprotein
• Ribosome biogenesis
• RNA-binding
• rRNA processing
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of GAR1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TERC
• CLNS1A
• DKC1
• NOP10
• SMN1