GARRE1

gene
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Also known as MiniBAR

Summary

GARRE1 (granule associated Rac and RHOG effector 1, HGNC:29016) is a protein-coding gene on chromosome 19q13.11, encoding Granule associated Rac and RHOG effector protein 1 (O15063). Acts as an effector of RAC1.

Enables CCR4-NOT complex binding activity and small GTPase binding activity. Involved in Rac protein signal transduction. Located in P-body.

Source: NCBI Gene 9710 — RefSeq curated summary.

At a glance

  • GWAS associations: 4
  • Clinical variants (ClinVar): 201 total
  • MANE Select transcript: NM_014686

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29016
Approved symbolGARRE1
Namegranule associated Rac and RHOG effector 1
Location19q13.11
Locus typegene with protein product
StatusApproved
AliasesMiniBAR
Ensembl geneENSG00000166398
Ensembl biotypeprotein_coding
OMIM619335
Entrez9710

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000299505, ENST00000585833, ENST00000588338, ENST00000588470, ENST00000588974, ENST00000589583, ENST00000592124, ENST00000899720, ENST00000899721, ENST00000932925, ENST00000932926

RefSeq mRNA: 1 — MANE Select: NM_014686 NM_014686

CCDS: CCDS12436

Canonical transcript exons

ENST00000299505 — 14 exons

ExonStartEnd
ENSE000004015253434787734348042
ENSE000006961633432799034328151
ENSE000006962083433018934330347
ENSE000006962563433370434333801
ENSE000006963023433986734339992
ENSE000011602143434901634349153
ENSE000011602253434142234342455
ENSE000011603053429967934300968
ENSE000011849593435264734355566
ENSE000024526903432742134327561
ENSE000024981113431990734320116
ENSE000025361103432777134327866
ENSE000035876013435151434351592
ENSE000036992103425455434254614

Expression profiles

Bgee: expression breadth ubiquitous, 142 present calls, max score 90.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3040 / max 162.8225, expressed in 1755 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
17511512.24521754
1751171.0588249

Top tissues by expression

142 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
placentaUBERON:000198790.80gold quality
calcaneal tendonUBERON:000370190.80gold quality
colonic epitheliumUBERON:000039789.46gold quality
skeletal muscle tissueUBERON:000113488.24gold quality
omental fat padUBERON:001041487.55gold quality
endometriumUBERON:000129587.33gold quality
adipose tissueUBERON:000101387.05gold quality
right lungUBERON:000216786.81gold quality
tonsilUBERON:000237286.60gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047386.55gold quality
subcutaneous adipose tissueUBERON:000219086.55gold quality
muscle tissueUBERON:000238586.51gold quality
thoracic mammary glandUBERON:000520086.24gold quality
muscle organUBERON:000163086.11gold quality
skeletal muscle organUBERON:001489286.11gold quality
muscle of legUBERON:000138386.03gold quality
gall bladderUBERON:000211085.90gold quality
gastrocnemiusUBERON:000138885.83gold quality
smooth muscle tissueUBERON:000113585.42gold quality
lungUBERON:000204885.33gold quality
uterusUBERON:000099584.95gold quality
hindlimb stylopod muscleUBERON:000425284.62gold quality
ascending aortaUBERON:000149684.50gold quality
adrenal tissueUBERON:001830384.41gold quality
thoracic aortaUBERON:000151584.36gold quality
lower esophagus mucosaUBERON:003583484.35gold quality
uterine cervixUBERON:000000284.31gold quality
left uterine tubeUBERON:000130384.15gold quality
popliteal arteryUBERON:000225083.95gold quality
tibial arteryUBERON:000761083.95gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes10.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

173 targeting GARRE1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-3163100.0077.238605
HSA-MIR-4692100.0067.322066
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-8485100.0077.574731
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-126-5P100.0072.713180
HSA-MIR-340-5P100.0072.504437
HSA-MIR-656-3P100.0072.152788
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-451499.9967.101870
HSA-MIR-428299.9975.366408
HSA-MIR-186-5P99.9970.833707
HSA-MIR-223-3P99.9970.141140

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriogarre1ENSDARG00000102796
danio_rerioGARRE1ENSDARG00000105288
mus_musculusGarre1ENSMUSG00000066571
rattus_norvegicusGarre1ENSRNOG00000021129

Protein

Protein identifiers

Granule associated Rac and RHOG effector protein 1O15063 (reviewed: O15063)

All UniProt accessions (3): O15063, K7EPA0, U3KPV0

UniProt curated annotations — full annotation on UniProt →

Function. Acts as an effector of RAC1. Associates with CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. May also play a role in miRNA silencing machinery.

Subunit / interactions. Interacts with AGO2 and TNRC6A.

Subcellular location. Cytoplasm. P-body.

RefSeq proteins (1): NP_055501* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR031813DUF4745Domain
IPR043385GARRE1Family

Pfam: PF15923

UniProt features (46 total): helix 21, strand 8, compositionally biased region 6, turn 5, region of interest 3, chain 1, modified residue 1, sequence conflict 1

Structure

Experimental structures (PDB)

2 structures.

PDBMethodResolution (Å)
8BUYX-RAY DIFFRACTION1.6
8BUXX-RAY DIFFRACTION1.86

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O15063-F154.870.17

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 723

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

IDPathway
R-HSA-9013149RAC1 GTPase cycle
R-HSA-9013404RAC2 GTPase cycle
R-HSA-9013408RHOG GTPase cycle
R-HSA-9013423RAC3 GTPase cycle

MSigDB gene sets: 215 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, MYOGENIN_Q6, GOMF_GTPASE_BINDING, ATGTTAA_MIR302C, PATIL_LIVER_CANCER, KOYAMA_SEMA3B_TARGETS_UP, BRN2_01, OCT1_06, ATTCTTT_MIR186, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, USF_02, CUI_TCF21_TARGETS_2_DN, DBP_Q6, FOXJ2_02, CART1_01

GO Biological Process (1): Rac protein signal transduction (GO:0016601)

GO Molecular Function (3): small GTPase binding (GO:0031267), CCR4-NOT complex binding (GO:1905762), protein binding (GO:0005515)

GO Cellular Component (3): P-body (GO:0000932), cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
RHO GTPase cycle4

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
small GTPase-mediated signal transduction1
GTPase binding1
protein-containing complex binding1
binding1
cytoplasmic ribonucleoprotein granule1
cytoplasm1
intracellular anatomical structure1

Protein interactions and networks

STRING

678 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
GARRE1RESF1Q9HCM1543
GARRE1CZIBQ9NWV4447
GARRE1RSAD1Q9HA92433
GARRE1LRATD1Q96KN4425
GARRE1DOP1AQ5JWR5408
GARRE1DOP1BQ9Y3R5402
GARRE1DPM3Q9P2X0395
GARRE1LRATD2Q96KN1391
GARRE1DPM2O94777386
GARRE1DPM1O60762375
GARRE1FAM133BQ5BKY9358
GARRE1P0DMU3P0DMU3353
GARRE1PKNOX1P55347350
GARRE1FAM135AQ9P2D6338
GARRE1GPATCH8Q9UKJ3326

IntAct

43 interactions, top by confidence:

ABTypeScore
YWHAGBLTP3Bpsi-mi:“MI:0914”(association)0.640
YWHAGBLTP3Bpsi-mi:“MI:2364”(proximity)0.640
GARRE1CAMKK1psi-mi:“MI:0915”(physical association)0.620
YWHABBLTP3Bpsi-mi:“MI:2364”(proximity)0.610
YWHABBLTP3Bpsi-mi:“MI:0914”(association)0.610
YWHAHBLTP3Bpsi-mi:“MI:0914”(association)0.570
YWHAHBLTP3Bpsi-mi:“MI:2364”(proximity)0.570
GARRE1psi-mi:“MI:0915”(physical association)0.550
GARRE1APODpsi-mi:“MI:0914”(association)0.530
YWHAZBLTP3Bpsi-mi:“MI:0914”(association)0.530
KRBOX4ASXL2psi-mi:“MI:0914”(association)0.350
Wdr5MGApsi-mi:“MI:0914”(association)0.350
MYH13C1orf226psi-mi:“MI:0914”(association)0.350
UNC93B1psi-mi:“MI:0914”(association)0.350
Mpsi-mi:“MI:0914”(association)0.350
DENND11psi-mi:“MI:0914”(association)0.350
RYBPPIPSLpsi-mi:“MI:0914”(association)0.350
RYBPFAM186Apsi-mi:“MI:0914”(association)0.350
YWHABBRAFpsi-mi:“MI:0914”(association)0.350
YWHAGBRAFpsi-mi:“MI:0914”(association)0.350
ATG16L1ESYT2psi-mi:“MI:0914”(association)0.350
DUSP16MEIOCpsi-mi:“MI:0914”(association)0.350
SLC7A9CDC7psi-mi:“MI:0914”(association)0.350
MKS1GARRE1psi-mi:“MI:2364”(proximity)0.270
MKS1AIPpsi-mi:“MI:2364”(proximity)0.270
CPEB1CNOT1psi-mi:“MI:2364”(proximity)0.270
FHIP1BMED19psi-mi:“MI:2364”(proximity)0.270
YWHABE2F8psi-mi:“MI:2364”(proximity)0.270

BioGRID (213): KIAA0355 (Affinity Capture-MS), KIAA0355 (Proximity Label-MS), KIAA0355 (Affinity Capture-MS), KIAA0355 (Affinity Capture-MS), KIAA0355 (Affinity Capture-MS), CAMKK1 (Affinity Capture-MS), ABI2 (Affinity Capture-MS), CLU (Affinity Capture-MS), APOD (Affinity Capture-MS), NCKAP1 (Affinity Capture-MS), MUCL1 (Affinity Capture-MS), KIAA0355 (Affinity Capture-RNA), KIAA0355 (Proximity Label-MS), KIAA0355 (Affinity Capture-MS), KIAA0355 (Affinity Capture-MS)

ESM2 similar proteins: A0JMD2, A2AWL7, A2VCZ5, A6H5Y1, B8JKP6, D3ZMK9, F1MJR8, F1QB81, O14513, O15063, O60284, P08651, P15822, P31629, P35547, P59598, Q03172, Q08050, Q13029, Q15468, Q2YDH8, Q3UHF7, Q499E5, Q4V7H1, Q5REU9, Q5SPL2, Q5SW75, Q5SWW4, Q5T5Y3, Q5VWQ0, Q5W1J6, Q60988, Q63755, Q6JPI3, Q6NRK3, Q6NWJ0, Q71F56, Q76I76, Q76I79, Q80TY4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 41 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Activation of BAD and translocation to mitochondria7190.3×2e-13
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex7167.9×3e-13
SARS-CoV-1 targets host intracellular signalling and regulatory pathways7167.9×3e-13
Activation of BH3-only proteins7124.1×3e-12
RHO GTPases activate PKNs779.3×7e-11
Intrinsic Pathway for Apoptosis773.2×1e-10
FOXO-mediated transcription560.0×2e-07
SARS-CoV-1-host interactions743.9×3e-09

GO biological processes:

GO termPartnersFoldFDR
protein targeting553.9×5e-06
intracellular protein localization721.6×5e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

201 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance170
Likely benign8
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3362 predictions. Top by Δscore:

VariantEffectΔscore
19:34254612:CAGGT:Cdonor_loss1.0000
19:34254614:GG:Gdonor_loss1.0000
19:34254615:G:GAdonor_loss1.0000
19:34320075:G:GTdonor_gain1.0000
19:34320084:G:GTdonor_gain1.0000
19:34327558:GCAA:Gdonor_gain1.0000
19:34327559:CAAG:Cdonor_loss1.0000
19:34327561:AGTA:Adonor_loss1.0000
19:34327562:G:GGdonor_gain1.0000
19:34327562:G:Tdonor_loss1.0000
19:34327563:TAA:Tdonor_loss1.0000
19:34327860:TTTGC:Tdonor_gain1.0000
19:34328144:T:Gdonor_gain1.0000
19:34328148:GACG:Gdonor_gain1.0000
19:34330187:A:AGacceptor_gain1.0000
19:34330188:G:GGacceptor_gain1.0000
19:34330188:GC:Gacceptor_gain1.0000
19:34330188:GCAT:Gacceptor_gain1.0000
19:34330188:GCATA:Gacceptor_gain1.0000
19:34330348:G:GGdonor_gain1.0000
19:34339861:GCCTA:Gacceptor_loss1.0000
19:34339862:CCTAG:Cacceptor_loss1.0000
19:34339863:CTA:Cacceptor_loss1.0000
19:34339864:TAG:Tacceptor_loss1.0000
19:34339865:A:AGacceptor_gain1.0000
19:34339865:A:Cacceptor_loss1.0000
19:34339866:G:GCacceptor_loss1.0000
19:34339866:G:GGacceptor_gain1.0000
19:34339866:GGT:Gacceptor_gain1.0000
19:34339989:GAAGG:Gdonor_loss1.0000

AlphaMissense

7020 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:34330294:T:AW404R1.000
19:34330294:T:CW404R1.000
19:34333783:T:AV448D1.000
19:34333800:T:AW454R1.000
19:34333800:T:CW454R1.000
19:34300724:T:CL84P0.999
19:34300733:T:CL87P0.999
19:34300753:A:CS94R0.999
19:34300755:T:AS94R0.999
19:34300755:T:GS94R0.999
19:34300763:T:CL97P0.999
19:34300823:T:CL117P0.999
19:34300844:T:AV124D0.999
19:34300865:T:CL131P0.999
19:34300877:T:AI135K0.999
19:34300901:T:CL143P0.999
19:34300910:T:CL146P0.999
19:34319919:T:CC170R0.999
19:34319921:T:GC170W0.999
19:34327828:T:CF302L0.999
19:34327829:T:CF302S0.999
19:34327830:C:AF302L0.999
19:34327830:C:GF302L0.999
19:34328148:G:CK367N0.999
19:34328148:G:TK367N0.999
19:34330205:T:CL374P0.999
19:34330282:T:CC400R0.999
19:34330308:C:GC408W0.999
19:34330311:G:CK409N0.999
19:34330311:G:TK409N0.999

dbSNP variants (sampled 300 via entrez): RS1000018510 (19:34268784 G>A,C), RS1000058391 (19:34353711 G>A), RS1000066670 (19:34311665 C>T), RS1000079598 (19:34298081 A>G), RS1000089909 (19:34269784 T>G), RS1000111999 (19:34311088 G>T), RS1000138045 (19:34304680 C>A,G), RS1000221531 (19:34316988 T>C), RS1000256209 (19:34275027 T>C), RS1000286084 (19:34347434 C>T), RS1000295430 (19:34315864 A>T), RS1000355245 (19:34275265 C>T), RS1000382649 (19:34298184 G>A), RS1000382696 (19:34344930 C>G), RS1000396955 (19:34323141 C>T)

Disease associations

OMIM: gene MIM:619335 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

StudyTraitp-value
GCST000556_2Functional MRI7.000000e-06
GCST006979_679Heel bone mineral density2.000000e-12
GCST007269_174Pulse pressure2.000000e-08
GCST008554_9Atorvastatin-induced myopathy5.000000e-06

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0004550amygdala reactivity measurement
EFO:0009270heel bone mineral density
EFO:0005763pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

ChemicalActions (top 5)PubMed papers
GSK-J4increases expression1
bisphenol Adecreases methylation1
trichostatin Aaffects expression1
methylparabenincreases expression1
ICG 001increases expression1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)decreases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acidincreases expression1
Temozolomideincreases expression1
Leflunomideincreases expression1
Acetaminophenincreases expression1
Air Pollutantsincreases abundance, decreases expression1
Benzo(a)pyreneaffects methylation1
Cadmiumdecreases expression, increases abundance1
Caffeinedecreases phosphorylation1
Doxorubicindecreases expression1
Tobacco Smoke Pollutionincreases expression1
Tretinoindecreases expression1
Urethaneincreases expression1
Valproic Acidaffects expression1
Cyclosporineincreases expression1
Antirheumatic Agentsincreases expression1
Cadmium Chloridedecreases expression, increases abundance1
Copper Sulfatedecreases expression1
Particulate Matterdecreases expression, increases abundance1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): myopathy