GABARAP (GABA type A receptor-associated protein) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: GABARAP (GABA type A receptor-associated protein) Homo sapiens
Analyze
Symbol: GABARAP
Name: GABA type A receptor-associated protein
RGD ID: 736805
HGNC Page HGNC:4067
Description: Enables several functions, including beta-tubulin binding activity; phosphatidylethanolamine binding activity; and ubiquitin protein ligase binding activity. Involved in extrinsic apoptotic signaling pathway via death domain receptors; positive regulation of protein metabolic process; and regulation of Rac protein signal transduction. Located in autophagosome membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATG8A; FLJ25768; GABARAP-a; gamma-aminobutyric acid receptor associated protein; gamma-aminobutyric acid receptor-associated protein; MGC120154; MGC120155; MM46
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100420878  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,240,008 - 7,242,449 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,240,008 - 7,242,449 (-)EnsemblGRCh38hg38GRCh38
GRCh37177,143,327 - 7,145,768 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,084,462 - 7,086,477 (-)NCBINCBI36Build 36hg18NCBI36
Build 34177,084,462 - 7,086,477NCBI
Celera177,168,385 - 7,170,397 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,035,144 - 7,037,156 (-)NCBIHuRef
CHM1_1177,152,530 - 7,154,546 (-)NCBICHM1_1
T2T-CHM13v2.0177,140,933 - 7,143,371 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
autophagy pathway  (IEA,IMP,TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Network organization of the human autophagy system. Behrends C, etal., Nature. 2010 Jul 1;466(7302):68-76. Epub 2010 Jun 20.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. LC3 conjugation system in mammalian autophagy. Tanida I, etal., Int J Biochem Cell Biol. 2004 Dec;36(12):2503-18.
Additional References at PubMed
PMID:9892355   PMID:10856287   PMID:10899939   PMID:10900017   PMID:10931946   PMID:10984509   PMID:11042152   PMID:11096062   PMID:11146101   PMID:11414770   PMID:11461150   PMID:11727985  
PMID:11727986   PMID:11729197   PMID:11779480   PMID:11825910   PMID:11875056   PMID:11885988   PMID:11890701   PMID:11948245   PMID:11979730   PMID:11997026   PMID:12367594   PMID:12477932  
PMID:12507496   PMID:14625090   PMID:15169837   PMID:15695379   PMID:15977068   PMID:16169070   PMID:16303767   PMID:16339017   PMID:16874098   PMID:17164261   PMID:17353931   PMID:17580304  
PMID:17581966   PMID:18638487   PMID:18976975   PMID:19056683   PMID:19154346   PMID:19250911   PMID:19363302   PMID:19533740   PMID:20010802   PMID:20111057   PMID:20200478   PMID:20452972  
PMID:20639871   PMID:20665069   PMID:20706999   PMID:20810658   PMID:20820800   PMID:21376781   PMID:21383079   PMID:21617041   PMID:21684337   PMID:21873635   PMID:22267086   PMID:22354992  
PMID:22421968   PMID:22470510   PMID:22939629   PMID:22948227   PMID:23043107   PMID:23209807   PMID:23414517   PMID:23545901   PMID:23602568   PMID:23721406   PMID:23878278   PMID:24089205  
PMID:24100292   PMID:24198379   PMID:24240096   PMID:24290141   PMID:24582747   PMID:24668264   PMID:24686084   PMID:24879152   PMID:25126726   PMID:25126728   PMID:25127057   PMID:25215947  
PMID:25224329   PMID:25498145   PMID:25500191   PMID:25659891   PMID:25684205   PMID:25771791   PMID:25847297   PMID:26040720   PMID:26043688   PMID:26186194   PMID:26347139   PMID:26413874  
PMID:26524528   PMID:26687599   PMID:26902585   PMID:27133164   PMID:27221053   PMID:27764541   PMID:27864321   PMID:27880917   PMID:28253953   PMID:28287329   PMID:28320742   PMID:28497576  
PMID:28514442   PMID:28712572   PMID:28729737   PMID:28990689   PMID:29142222   PMID:29149599   PMID:29251248   PMID:29426817   PMID:29693725   PMID:29791506   PMID:29792687   PMID:29867141  
PMID:30021884   PMID:30217973   PMID:30218067   PMID:30258106   PMID:30504823   PMID:30767700   PMID:30773365   PMID:30982432   PMID:30990354   PMID:31006538   PMID:31208283   PMID:31213539  
PMID:31315929   PMID:31625269   PMID:31685529   PMID:31723608   PMID:31857374   PMID:31901637   PMID:31971854   PMID:32009292   PMID:32272685   PMID:32296183   PMID:32315611   PMID:32456010  
PMID:32513696   PMID:32620754   PMID:32640226   PMID:32685993   PMID:33374830   PMID:33436498   PMID:33452816   PMID:33545068   PMID:33591943   PMID:33961781   PMID:34037656   PMID:34929165  
PMID:35220892   PMID:35366418   PMID:35831314   PMID:36481789   PMID:36574265   PMID:36736316   PMID:36898370   PMID:37219487   PMID:37252361   PMID:37434364   PMID:37478627   PMID:37827155  
PMID:37987447  


Genomics

Comparative Map Data
GABARAP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,240,008 - 7,242,449 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,240,008 - 7,242,449 (-)EnsemblGRCh38hg38GRCh38
GRCh37177,143,327 - 7,145,768 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,084,462 - 7,086,477 (-)NCBINCBI36Build 36hg18NCBI36
Build 34177,084,462 - 7,086,477NCBI
Celera177,168,385 - 7,170,397 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,035,144 - 7,037,156 (-)NCBIHuRef
CHM1_1177,152,530 - 7,154,546 (-)NCBICHM1_1
T2T-CHM13v2.0177,140,933 - 7,143,371 (-)NCBIT2T-CHM13v2.0
Gabarap
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,882,196 - 69,885,775 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1169,881,969 - 69,885,777 (+)EnsemblGRCm39 Ensembl
GRCm381169,991,370 - 69,994,949 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1169,991,143 - 69,994,951 (+)EnsemblGRCm38mm10GRCm38
MGSCv371169,804,872 - 69,808,451 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361169,807,565 - 69,811,141 (+)NCBIMGSCv36mm8
Celera1177,539,180 - 77,542,759 (+)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1142.95NCBI
Gabarap
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81055,213,465 - 55,216,787 (+)NCBIGRCr8
mRatBN7.21054,714,777 - 54,718,099 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1054,714,198 - 54,717,765 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1059,376,972 - 59,380,294 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01058,865,552 - 58,868,874 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01054,372,830 - 54,376,146 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01056,601,288 - 56,604,223 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1056,601,288 - 56,604,221 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01056,346,407 - 56,349,342 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41056,837,772 - 56,840,707 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11056,851,394 - 56,854,330 (+)NCBI
Celera1053,868,419 - 53,871,353 (+)NCBICelera
Cytogenetic Map10q24NCBI
Gabarap
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554679,667,941 - 9,670,067 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554679,667,938 - 9,670,067 (+)NCBIChiLan1.0ChiLan1.0
GABARAP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21914,833,095 - 14,836,107 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11716,799,099 - 16,801,668 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0177,270,316 - 7,272,365 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1177,257,659 - 7,260,276 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl177,257,659 - 7,260,276 (-)Ensemblpanpan1.1panPan2
GABARAP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1532,207,879 - 32,209,976 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl532,207,887 - 32,209,908 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha532,346,200 - 32,348,297 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0532,313,526 - 32,315,623 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl532,313,534 - 32,315,555 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1532,278,810 - 32,280,907 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0532,237,838 - 32,239,935 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0532,414,791 - 32,416,888 (-)NCBIUU_Cfam_GSD_1.0
Gabarap
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560247,059,854 - 47,061,872 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936595533,977 - 536,271 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936595534,042 - 536,289 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GABARAP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1252,596,543 - 52,598,194 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11252,596,130 - 52,598,166 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21254,842,339 - 54,844,400 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GABARAP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1166,614,478 - 6,616,516 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl166,614,688 - 6,616,443 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605914,793,285 - 14,796,280 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gabarap
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247869,857,370 - 9,860,063 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247869,857,370 - 9,859,675 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GABARAP
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 copy number loss See cases [RCV000051043] Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1 copy number loss See cases [RCV000053425] Chr17:7210345..7496934 [GRCh38]
Chr17:7113664..7400253 [GRCh37]
Chr17:7054388..7340977 [NCBI36]
Chr17:17p13.1		 pathogenic
NM_001143775.1(CTDNEP1):c.587C>A (p.Pro196Gln) single nucleotide variant Malignant melanoma [RCV000063300] Chr17:7246028 [GRCh38]
Chr17:7149347 [GRCh37]
Chr17:7090071 [NCBI36]
Chr17:17p13.1		 not provided
GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3 copy number gain See cases [RCV000133763] Chr17:6958978..7491129 [GRCh38]
Chr17:6862297..7394448 [GRCh37]
Chr17:6803021..7335172 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 copy number gain See cases [RCV000138220] Chr17:6361393..7750863 [GRCh38]
Chr17:6264713..7654181 [GRCh37]
Chr17:6205437..7594906 [NCBI36]
Chr17:17p13.2-13.1		 likely pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3 copy number gain See cases [RCV000139216] Chr17:6891357..7264234 [GRCh38]
Chr17:6794676..7167553 [GRCh37]
Chr17:6735400..7108277 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.1(chr17:7120452-7165252)x3 copy number gain Breast ductal adenocarcinoma [RCV000207224] Chr17:7120452..7165252 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7121580-7186623)x3 copy number gain Breast ductal adenocarcinoma [RCV000207305] Chr17:7121580..7186623 [GRCh37]
Chr17:17p13.1		 likely pathogenic|uncertain significance
Single allele duplication Isolated Pierre-Robin syndrome [RCV000677112] Chr17:7124585..7400253 [GRCh37]
Chr17:17p13.1		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1		 drug response
GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1 copy number loss See cases [RCV000512276] Chr17:7094070..7414448 [GRCh37]
Chr17:17p13.1		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NC_000017.10:g.7124585_7400253dup duplication Robin sequence [RCV000677112] Chr17:7124585..7400253 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.1(chr17:7013365-7265208)x1 copy number loss not provided [RCV000739389] Chr17:7013365..7265208 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6800893-7304696)x1 copy number loss not provided [RCV001006866] Chr17:6800893..7304696 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:6826243-7311408)x3 copy number gain not provided [RCV000849961] Chr17:6826243..7311408 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_007278.2(GABARAP):c.44G>A (p.Arg15His) single nucleotide variant Inborn genetic diseases [RCV003245121] Chr17:7242287 [GRCh38]
Chr17:7145606 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_7123304)_(7606804_?)del deletion Common variable immunodeficiency [RCV003107751] Chr17:7123304..7606804 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Common variable immunodeficiency [RCV001338841]|Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7014481-7283233)x1 copy number loss not provided [RCV001259300] Chr17:7014481..7283233 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_6328780)_(7606804_?)dup duplication Congenital myasthenic syndrome 2A [RCV003109217]|Very long chain acyl-CoA dehydrogenase deficiency [RCV003119078] Chr17:6328780..7606804 [GRCh37]
Chr17:17p13.2-13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7020054-8086290) copy number loss not specified [RCV002052585] Chr17:7020054..8086290 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7120455)_(8151423_?)del deletion Li-Fraumeni syndrome [RCV003111420] Chr17:7120455..8151423 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7123304)_(8193254_?)del deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV003119081] Chr17:7123304..8193254 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7043719-7193448)x3 copy number gain not provided [RCV002474897] Chr17:7043719..7193448 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1 copy number loss not provided [RCV003222936] Chr17:7004894..7766789 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1 copy number loss not specified [RCV003987240] Chr17:7002380..7469251 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2159
Count of miRNA genes:680
Interacting mature miRNAs:785
Transcripts:ENST00000302386, ENST00000570856, ENST00000571129, ENST00000571253, ENST00000573928, ENST00000577035
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
RH79691  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,146,967 - 7,147,235UniSTSGRCh37
GRCh373113,605,155 - 113,605,422UniSTSGRCh37
Build 363115,087,845 - 115,088,112RGDNCBI36
Celera177,171,611 - 7,171,879UniSTS
Celera3112,013,581 - 112,013,848RGD
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map3q13.31UniSTS
HuRef177,038,370 - 7,038,638UniSTS
HuRef3110,979,765 - 110,980,032UniSTS
RH26918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,143,924 - 7,144,034UniSTSGRCh37
Build 36177,084,648 - 7,084,758RGDNCBI36
Celera177,168,571 - 7,168,681RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,035,330 - 7,035,440UniSTS
G62047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,143,932 - 7,144,072UniSTSGRCh37
Build 36177,084,656 - 7,084,796RGDNCBI36
Celera177,168,579 - 7,168,719RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,035,338 - 7,035,478UniSTS


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 92 92
Medium 2433 2871 1692 593 1505 434 4357 2195 3701 396 1425 1610 175 1 1204 2788 5 2
Low 6 22 29 26 354 26 2 33 20 34 3 1
Below cutoff 6 5 5 5 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_007278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB030711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC120057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF044671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF067171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF183425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN663880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U65413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000302386   ⟹   ENSP00000306866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,240,008 - 7,242,449 (-)Ensembl
RefSeq Acc Id: ENST00000570856   ⟹   ENSP00000460489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,240,574 - 7,242,358 (-)Ensembl
RefSeq Acc Id: ENST00000571129   ⟹   ENSP00000461882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,240,628 - 7,242,156 (-)Ensembl
RefSeq Acc Id: ENST00000571253   ⟹   ENSP00000459345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,240,854 - 7,242,252 (-)Ensembl
RefSeq Acc Id: ENST00000573928   ⟹   ENSP00000458476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,241,271 - 7,242,447 (-)Ensembl
RefSeq Acc Id: ENST00000577035   ⟹   ENSP00000460855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,240,408 - 7,241,819 (-)Ensembl
RefSeq Acc Id: NM_007278   ⟹   NP_009209
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,240,008 - 7,242,449 (-)NCBI
GRCh37177,143,738 - 7,145,753 (-)ENTREZGENE
Build 36177,084,462 - 7,086,477 (-)NCBI Archive
HuRef177,035,144 - 7,037,156 (-)ENTREZGENE
CHM1_1177,152,530 - 7,154,546 (-)NCBI
T2T-CHM13v2.0177,140,933 - 7,143,371 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_009209   ⟸   NM_007278
- UniProtKB: O95166 (UniProtKB/Swiss-Prot),   Q6IAW1 (UniProtKB/TrEMBL),   B2R5J1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000460489   ⟸   ENST00000570856
RefSeq Acc Id: ENSP00000459345   ⟸   ENST00000571253
RefSeq Acc Id: ENSP00000461882   ⟸   ENST00000571129
RefSeq Acc Id: ENSP00000458476   ⟸   ENST00000573928
RefSeq Acc Id: ENSP00000460855   ⟸   ENST00000577035
RefSeq Acc Id: ENSP00000306866   ⟸   ENST00000302386

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95166-F1-model_v2 AlphaFold O95166 1-117 view protein structure

Promoters
RGD ID:6794168
Promoter ID:HG_KWN:24856
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000220000
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,086,246 - 7,087,312 (-)MPROMDB
RGD ID:6853344
Promoter ID:EP74497
Type:initiation region
Name:HS_GABARAP_2
Description:GABA(A) receptor-associated protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 2; 5' exon 1; site 2; major promoter.; see alsoEP74496  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,086,416 - 7,086,476EPD
RGD ID:6853342
Promoter ID:EP74496
Type:initiation region
Name:HS_GABARAP_1
Description:GABA(A) receptor-associated protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP74497  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,086,474 - 7,086,534EPD
RGD ID:7233655
Promoter ID:EPDNEW_H22574
Type:initiation region
Name:GABARAP_3
Description:GABA type A receptor-associated protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22575  EPDNEW_H22576  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,240,827 - 7,240,887EPDNEW
RGD ID:7233659
Promoter ID:EPDNEW_H22575
Type:initiation region
Name:GABARAP_2
Description:GABA type A receptor-associated protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22574  EPDNEW_H22576  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,241,835 - 7,241,895EPDNEW
RGD ID:7233661
Promoter ID:EPDNEW_H22576
Type:initiation region
Name:GABARAP_1
Description:GABA type A receptor-associated protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22574  EPDNEW_H22575  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,242,429 - 7,242,489EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4067 AgrOrtholog
COSMIC GABARAP COSMIC
Ensembl Genes ENSG00000170296 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000302386 ENTREZGENE
  ENST00000302386.10 UniProtKB/Swiss-Prot
  ENST00000570856.1 UniProtKB/TrEMBL
  ENST00000571129.5 UniProtKB/TrEMBL
  ENST00000571253.1 UniProtKB/TrEMBL
  ENST00000573928.1 UniProtKB/TrEMBL
  ENST00000577035.5 UniProtKB/TrEMBL
GTEx ENSG00000170296 GTEx
HGNC ID HGNC:4067 ENTREZGENE
Human Proteome Map GABARAP Human Proteome Map
InterPro Atg8-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11337 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 11337 ENTREZGENE
OMIM 605125 OMIM
PANTHER GAMMA-AMINOBUTYRIC ACID RECEPTOR-ASSOCIATED PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10969 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Atg8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28480 PharmGKB
Superfamily-SCOP SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R5J1 ENTREZGENE, UniProtKB/TrEMBL
  GBRAP_HUMAN UniProtKB/Swiss-Prot
  H6UMI1_HUMAN UniProtKB/TrEMBL
  I3L236_HUMAN UniProtKB/TrEMBL
  I3L3J4_HUMAN UniProtKB/TrEMBL
  O95166 ENTREZGENE
  Q6IAW1 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 GABARAP  GABA type A receptor-associated protein  GABARAP  GABA(A) receptor-associated protein  Symbol and/or name change 5135510 APPROVED