GAR1 (GAR1 ribonucleoprotein) - Rat Genome Database

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Gene: GAR1 (GAR1 ribonucleoprotein) Homo sapiens
Analyze
Symbol: GAR1
Name: GAR1 ribonucleoprotein
RGD ID: 1346713
HGNC Page HGNC:14264
Description: Enables box H/ACA snoRNA binding activity and telomerase RNA binding activity. Involved in telomere maintenance via telomerase. Located in chromosome, telomeric region; fibrillar center; and nucleoplasm. Part of box H/ACA snoRNP complex and box H/ACA telomerase RNP complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GAR1 homolog, ribonucleoprotein; GAR1 ribonucleoprotein homolog; H/ACA ribonucleoprotein complex subunit 1; NOLA1; nucleolar protein family A member 1; nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs); snoRNP protein GAR1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100129245  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384109,815,510 - 109,824,737 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4109,815,510 - 109,824,740 (+)EnsemblGRCh38hg38GRCh38
GRCh374110,736,666 - 110,745,893 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364110,956,115 - 110,965,342 (+)NCBINCBI36Build 36hg18NCBI36
Build 344111,094,269 - 111,103,495NCBI
Celera4108,030,240 - 108,039,463 (+)NCBICelera
Cytogenetic Map4q25NCBI
HuRef4106,468,787 - 106,478,009 (+)NCBIHuRef
CHM1_14110,713,156 - 110,722,381 (+)NCBICHM1_1
T2T-CHM13v2.04113,117,572 - 113,126,796 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. The box C/D and H/ACA snoRNPs: key players in the modification, processing and the dynamic folding of ribosomal RNA. Watkins NJ and Bohnsack MT, Wiley Interdiscip Rev RNA. 2012 May-Jun;3(3):397-414. doi: 10.1002/wrna.117. Epub 2011 Nov 7.
Additional References at PubMed
PMID:1821816   PMID:7566098   PMID:10757788   PMID:11074001   PMID:11509230   PMID:11790298   PMID:12244096   PMID:12477932   PMID:15044956   PMID:15146197   PMID:15489334   PMID:15635413  
PMID:17903301   PMID:18082603   PMID:18989882   PMID:19135898   PMID:19615732   PMID:19738201   PMID:19917616   PMID:20332099   PMID:20351177   PMID:20360068   PMID:21145461   PMID:21873635  
PMID:22527283   PMID:22658674   PMID:22681889   PMID:22939629   PMID:23602568   PMID:23685356   PMID:23707062   PMID:24204828   PMID:24270157   PMID:24457600   PMID:24711643   PMID:24981860  
PMID:25184681   PMID:25416818   PMID:25665578   PMID:25948554   PMID:26186194   PMID:26344197   PMID:26389662   PMID:26496610   PMID:26725010   PMID:26885983   PMID:27432908   PMID:27926873  
PMID:28027390   PMID:28077445   PMID:28225217   PMID:28514442   PMID:28515276   PMID:28977470   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29331416   PMID:29509190   PMID:29511261  
PMID:29568061   PMID:29695869   PMID:29802200   PMID:29844126   PMID:29845934   PMID:30463901   PMID:30572598   PMID:30804502   PMID:30948266   PMID:31048545   PMID:31059266   PMID:31091453  
PMID:31180492   PMID:31182584   PMID:31343991   PMID:31365120   PMID:31586073   PMID:31980649   PMID:32140098   PMID:32176628   PMID:32203420   PMID:32640226   PMID:32707033   PMID:32780723  
PMID:32807901   PMID:33301849   PMID:33306668   PMID:33526451   PMID:33644029   PMID:33658012   PMID:33729478   PMID:33777788   PMID:33838681   PMID:33852194   PMID:33961781   PMID:34079125  
PMID:34133714   PMID:34578187   PMID:34709727   PMID:34767673   PMID:34901782   PMID:35013218   PMID:35140242   PMID:35271311   PMID:35914814   PMID:35944360   PMID:36114006   PMID:36244648  
PMID:36273042   PMID:36373674   PMID:36424410   PMID:36526897   PMID:36607699   PMID:36774506   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
GAR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384109,815,510 - 109,824,737 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4109,815,510 - 109,824,740 (+)EnsemblGRCh38hg38GRCh38
GRCh374110,736,666 - 110,745,893 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364110,956,115 - 110,965,342 (+)NCBINCBI36Build 36hg18NCBI36
Build 344111,094,269 - 111,103,495NCBI
Celera4108,030,240 - 108,039,463 (+)NCBICelera
Cytogenetic Map4q25NCBI
HuRef4106,468,787 - 106,478,009 (+)NCBIHuRef
CHM1_14110,713,156 - 110,722,381 (+)NCBICHM1_1
T2T-CHM13v2.04113,117,572 - 113,126,796 (+)NCBIT2T-CHM13v2.0
Gar1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393129,618,561 - 129,625,045 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3129,618,561 - 129,625,045 (-)EnsemblGRCm39 Ensembl
GRCm383129,824,912 - 129,831,407 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3129,824,912 - 129,831,396 (-)EnsemblGRCm38mm10GRCm38
MGSCv373129,527,830 - 129,534,314 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363129,816,942 - 129,823,178 (-)NCBIMGSCv36mm8
Celera3136,337,668 - 136,344,152 (-)NCBICelera
Cytogenetic Map3G3NCBI
cM Map359.16NCBI
Gar1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82221,049,471 - 221,056,749 (-)NCBIGRCr8
mRatBN7.22218,375,231 - 218,382,509 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2218,375,353 - 218,382,524 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2226,060,286 - 226,067,566 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02223,959,973 - 223,967,253 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02218,817,626 - 218,824,906 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02235,250,453 - 235,258,464 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2235,250,453 - 235,257,731 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0274,665,990 - 74,673,268 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42227,267,775 - 227,275,054 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2210,660,447 - 210,667,725 (-)NCBICelera
Cytogenetic Map2q43NCBI
Gar1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955496475,579 - 483,030 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955496476,061 - 483,030 (-)NCBIChiLan1.0ChiLan1.0
GAR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23107,906,362 - 107,915,651 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14108,199,753 - 108,209,052 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04102,311,275 - 102,320,579 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14112,878,912 - 112,888,134 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4112,879,223 - 112,887,828 (+)Ensemblpanpan1.1panPan2
GAR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13229,995,710 - 30,004,545 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3229,996,148 - 30,004,536 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3212,025,443 - 12,043,375 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03230,207,427 - 30,225,345 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3230,216,948 - 30,245,664 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13230,201,712 - 30,219,616 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03229,944,865 - 29,962,702 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0329,886,399 - 9,904,243 (-)NCBIUU_Cfam_GSD_1.0
Gar1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530110,936,187 - 10,944,501 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365631,006,517 - 1,014,808 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365631,006,475 - 1,014,808 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GAR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8112,400,005 - 112,414,033 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18112,401,114 - 112,414,277 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28120,483,851 - 120,497,033 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GAR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1757,713,245 - 57,722,831 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl757,713,881 - 57,722,224 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603736,365,953 - 36,375,519 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gar1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462483094,090 - 102,155 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462483094,929 - 102,170 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GAR1
6 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q25(chr4:109800241-109990141)x3 copy number gain See cases [RCV000051633] Chr4:109800241..109990141 [GRCh38]
Chr4:110721397..110911297 [GRCh37]
Chr4:110940846..111130746 [NCBI36]
Chr4:4q25		 uncertain significance
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3 copy number gain See cases [RCV000051777] Chr4:105778347..110206873 [GRCh38]
Chr4:106699504..111128029 [GRCh37]
Chr4:106918953..111347478 [NCBI36]
Chr4:4q24-25		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_018983.4(GAR1):c.200C>T (p.Pro67Leu) single nucleotide variant Inborn genetic diseases [RCV003254436] Chr4:109816364 [GRCh38]
Chr4:110737520 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21		 pathogenic
NM_018983.4(GAR1):c.97G>A (p.Gly33Ser) single nucleotide variant Inborn genetic diseases [RCV002817460] Chr4:109816261 [GRCh38]
Chr4:110737417 [GRCh37]
Chr4:4q25		 likely benign
NM_018983.4(GAR1):c.190C>G (p.Gln64Glu) single nucleotide variant Inborn genetic diseases [RCV002689876] Chr4:109816354 [GRCh38]
Chr4:110737510 [GRCh37]
Chr4:4q25		 uncertain significance
NM_018983.4(GAR1):c.488G>A (p.Gly163Asp) single nucleotide variant Inborn genetic diseases [RCV002850240] Chr4:109822405 [GRCh38]
Chr4:110743561 [GRCh37]
Chr4:4q25		 uncertain significance
NM_018983.4(GAR1):c.296A>G (p.Asn99Ser) single nucleotide variant Inborn genetic diseases [RCV003381597] Chr4:109818017 [GRCh38]
Chr4:110739173 [GRCh37]
Chr4:4q25		 uncertain significance
NM_018983.4(GAR1):c.330T>G (p.Ile110Met) single nucleotide variant Inborn genetic diseases [RCV003347176] Chr4:109818051 [GRCh38]
Chr4:110739207 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_018983.4(GAR1):c.93TGGAGGCGGCGG[1] (p.Gly36_Gly39del) microsatellite GAR1-related condition [RCV003959588] Chr4:109816255..109816266 [GRCh38]
Chr4:110737411..110737422 [GRCh37]
Chr4:4q25		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:355
Count of miRNA genes:235
Interacting mature miRNAs:255
Transcripts:ENST00000226796, ENST00000394631, ENST00000503671, ENST00000506840
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-19824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,734,748 - 110,734,846UniSTSGRCh37
Build 364110,954,197 - 110,954,295RGDNCBI36
Celera4108,028,322 - 108,028,420RGD
Cytogenetic Map4q25UniSTS
HuRef4106,466,870 - 106,466,968UniSTS
RH78325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,745,719 - 110,745,838UniSTSGRCh37
Build 364110,965,168 - 110,965,287RGDNCBI36
Celera4108,039,289 - 108,039,408RGD
Cytogenetic Map4q25UniSTS
HuRef4106,477,835 - 106,477,954UniSTS
GeneMap99-GB4 RH Map4498.16UniSTS
SHGC-19829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,739,472 - 110,739,580UniSTSGRCh37
Build 364110,958,921 - 110,959,029RGDNCBI36
Celera4108,033,047 - 108,033,155RGD
Cytogenetic Map4q25UniSTS
HuRef4106,471,593 - 106,471,701UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2266 1418 1434 344 1188 192 3703 1122 1952 321 1435 1487 165 1174 2153 3
Low 171 1566 292 279 761 273 653 1074 1779 98 20 123 7 30 635 2 1
Below cutoff 5 2 2 4 2 1 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000226796   ⟹   ENSP00000226796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4109,815,762 - 109,824,737 (+)Ensembl
RefSeq Acc Id: ENST00000394631   ⟹   ENSP00000378127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4109,815,510 - 109,824,740 (+)Ensembl
RefSeq Acc Id: ENST00000503671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4109,815,828 - 109,819,587 (+)Ensembl
RefSeq Acc Id: ENST00000506840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4109,815,635 - 109,822,566 (+)Ensembl
RefSeq Acc Id: NM_018983   ⟹   NP_061856
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384109,815,762 - 109,824,737 (+)NCBI
GRCh374110,736,666 - 110,745,893 (+)NCBI
Build 364110,956,115 - 110,965,342 (+)NCBI Archive
HuRef4106,468,787 - 106,478,009 (+)ENTREZGENE
CHM1_14110,713,156 - 110,722,381 (+)NCBI
T2T-CHM13v2.04113,117,825 - 113,126,796 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032993   ⟹   NP_127460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384109,815,510 - 109,824,737 (+)NCBI
GRCh374110,736,666 - 110,745,893 (+)ENTREZGENE
Build 364110,956,115 - 110,965,342 (+)NCBI Archive
HuRef4106,468,787 - 106,478,009 (+)ENTREZGENE
CHM1_14110,713,156 - 110,722,381 (+)NCBI
T2T-CHM13v2.04113,117,572 - 113,126,796 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047415789   ⟹   XP_047271745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384109,815,525 - 109,824,737 (+)NCBI
RefSeq Acc Id: XM_054350198   ⟹   XP_054206173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04113,117,843 - 113,126,796 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_061856   ⟸   NM_018983
- UniProtKB: Q5MJQ2 (UniProtKB/Swiss-Prot),   Q9NY12 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_127460   ⟸   NM_032993
- UniProtKB: Q5MJQ2 (UniProtKB/Swiss-Prot),   Q9NY12 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000378127   ⟸   ENST00000394631
RefSeq Acc Id: ENSP00000226796   ⟸   ENST00000226796
RefSeq Acc Id: XP_047271745   ⟸   XM_047415789
- Peptide Label: isoform X1
- UniProtKB: Q9NY12 (UniProtKB/Swiss-Prot),   Q5MJQ2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054206173   ⟸   XM_054350198
- Peptide Label: isoform X1
- UniProtKB: Q9NY12 (UniProtKB/Swiss-Prot),   Q5MJQ2 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NY12-F1-model_v2 AlphaFold Q9NY12 1-217 view protein structure

Promoters
RGD ID:6868264
Promoter ID:EPDNEW_H7297
Type:initiation region
Name:GAR1_1
Description:GAR1 ribonucleoprotein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7298  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384109,815,525 - 109,815,585EPDNEW
RGD ID:6868266
Promoter ID:EPDNEW_H7298
Type:initiation region
Name:GAR1_2
Description:GAR1 ribonucleoprotein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7297  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384109,815,762 - 109,815,822EPDNEW
RGD ID:6802361
Promoter ID:HG_KWN:48907
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_018983,   NM_032993,   UC010IMH.1,   UC010IMI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364110,955,961 - 110,956,502 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14264 AgrOrtholog
COSMIC GAR1 COSMIC
Ensembl Genes ENSG00000109534 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000226796 ENTREZGENE
  ENST00000226796.7 UniProtKB/Swiss-Prot
  ENST00000394631 ENTREZGENE
  ENST00000394631.7 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.10.230 UniProtKB/Swiss-Prot
GTEx ENSG00000109534 GTEx
HGNC ID HGNC:14264 ENTREZGENE
Human Proteome Map GAR1 Human Proteome Map
InterPro Gar1/Naf1_Cbf5-bd_sf UniProtKB/Swiss-Prot
  H/ACA_rnp_Gar1/Naf1 UniProtKB/Swiss-Prot
  Transl_B-barrel_sf UniProtKB/Swiss-Prot
KEGG Report hsa:54433 UniProtKB/Swiss-Prot
NCBI Gene 54433 ENTREZGENE
OMIM 606468 OMIM
PANTHER H/ACA RIBONUCLEOPROTEIN COMPLEX SUBUNIT 1 UniProtKB/Swiss-Prot
  NUCLEOLAR PROTEIN FAMILY A MEMBER 1 SNORNP PROTEIN GAR1 UniProtKB/Swiss-Prot
Pfam Gar1 UniProtKB/Swiss-Prot
PharmGKB PA164720194 PharmGKB
Superfamily-SCOP SSF50447 UniProtKB/Swiss-Prot
UniProt GAR1_HUMAN UniProtKB/Swiss-Prot
  Q5MJQ2 ENTREZGENE
  Q9NY12 ENTREZGENE
UniProt Secondary Q5MJQ2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 GAR1  GAR1 ribonucleoprotein  GAR1  GAR1 homolog, ribonucleoprotein  Symbol and/or name change 5135510 APPROVED
2015-07-07 GAR1  GAR1 homolog, ribonucleoprotein  GAR1  GAR1 ribonucleoprotein  Symbol and/or name change 5135510 APPROVED
2013-08-06 GAR1  GAR1 ribonucleoprotein  GAR1  GAR1 ribonucleoprotein homolog (yeast)  Symbol and/or name change 5135510 APPROVED