Human Gene GABARAPL1 (ENST00000266458.10_4) from GENCODE V47lift37
  Description: GABA type A receptor associated protein like 1, transcript variant 2 (from RefSeq NM_031412.4)
Gencode Transcript: ENST00000266458.10_4
Gencode Gene: ENSG00000139112.11_14
Transcript (Including UTRs)
   Position: hg19 chr12:10,365,476-10,375,727 Size: 10,252 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr12:10,365,729-10,374,451 Size: 8,723 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:10,365,476-10,375,727)mRNA (may differ from genome)Protein (117 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GBRL1_HUMAN
DESCRIPTION: RecName: Full=Gamma-aminobutyric acid receptor-associated protein-like 1; AltName: Full=Early estrogen-regulated protein; AltName: Full=GABA(A) receptor-associated protein-like 1; AltName: Full=Glandular epithelial cell protein 1; Short=GEC-1; Flags: Precursor;
FUNCTION: Increases cell-surface expression of kappa-type opioid receptor through facilitating anterograde intracellular trafficking of the receptor. Involved in formation of autophagosomal vacuoles.
SUBUNIT: Interacts with GABRG2 and beta-tubulin (By similarity). Interacts with OPRK1. Interacts with TP53INP1 and TP53INP2.
INTERACTION: O75143:ATG13; NbExp=2; IntAct=EBI-746969, EBI-2798775; Q2TAZ0:ATG2A; NbExp=3; IntAct=EBI-746969, EBI-2514077; Q9NT62:ATG3; NbExp=3; IntAct=EBI-746969, EBI-988094; Q9Y4P1:ATG4B; NbExp=7; IntAct=EBI-746969, EBI-712014; O95352:ATG7; NbExp=6; IntAct=EBI-746969, EBI-987834; Q14677:CLINT1; NbExp=2; IntAct=EBI-746969, EBI-1171113; Q8WXU2:DYX1C1; NbExp=2; IntAct=EBI-746969, EBI-2946907; Q8TF40:FNIP1; NbExp=2; IntAct=EBI-746969, EBI-2946919; Q9BQS8:FYCO1; NbExp=2; IntAct=EBI-746969, EBI-2869338; O75323:GBAS; NbExp=6; IntAct=EBI-746969, EBI-307133; P40939:HADHA; NbExp=4; IntAct=EBI-746969, EBI-356720; P55084:HADHB; NbExp=4; IntAct=EBI-746969, EBI-356635; O00410:IPO5; NbExp=4; IntAct=EBI-746969, EBI-356424; Q86V97:KBTBD6; NbExp=4; IntAct=EBI-746969, EBI-2514778; Q8WVZ9:KBTBD7; NbExp=3; IntAct=EBI-746969, EBI-473695; Q14596:NBR1; NbExp=4; IntAct=EBI-746969, EBI-742698; Q8NI08:NCOA7; NbExp=2; IntAct=EBI-746969, EBI-80799; P46934:NEDD4; NbExp=6; IntAct=EBI-746969, EBI-726944; Q8TD19:NEK9; NbExp=6; IntAct=EBI-746969, EBI-1044009; Q92636:NSMAF; NbExp=6; IntAct=EBI-746969, EBI-2947053; P41145:OPRK1; NbExp=5; IntAct=EBI-3464833, EBI-925028; P10644:PRKAR1A; NbExp=2; IntAct=EBI-746969, EBI-476431; Q9Y3P9:RABGAP1; NbExp=2; IntAct=EBI-746969, EBI-1057545; Q8WWW0:RASSF5; NbExp=2; IntAct=EBI-746969, EBI-367390; Q14151:SAFB2; NbExp=2; IntAct=EBI-3464833, EBI-352869; Q13501:SQSTM1; NbExp=7; IntAct=EBI-746969, EBI-307104; O95210:STBD1; NbExp=7; IntAct=EBI-746969, EBI-2947137; Q13188:STK3; NbExp=2; IntAct=EBI-746969, EBI-992580; Q13043:STK4; NbExp=2; IntAct=EBI-746969, EBI-367376; Q8TC07:TBC1D15; NbExp=2; IntAct=EBI-746969, EBI-1048247; Q9UPU7:TBC1D2B; NbExp=5; IntAct=EBI-3464833, EBI-2947180; O15040:TECPR2; NbExp=2; IntAct=EBI-746969, EBI-2946991; Q9GZZ9:UBA5; NbExp=2; IntAct=EBI-746969, EBI-747805; O75385:ULK1; NbExp=2; IntAct=EBI-746969, EBI-908831;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasmic vesicle membrane; Lipid-anchor. Endoplasmic reticulum (By similarity). Golgi apparatus (By similarity). Cytoplasmic vesicle, autophagosome.
TISSUE SPECIFICITY: Ubiquitous. Expressed at very high levels in the brain, heart, peripheral blood leukocytes, liver, kidney, placenta and skeletal muscle. Expressed at very low levels in thymus and small intestine.
PTM: The precursor molecule is cleaved by APG4B/ATG4B. ATG4B also mediates the delipidation required for GABARAPL1 recycling when autophagosomes fuse with lysosomes.
SIMILARITY: Belongs to the MAP1 LC3 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GABARAPL1
Diseases sorted by gene-association score: amyotrophic lateral sclerosis type 14 (2), retinitis pigmentosa (0)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 111.04 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 2360.28 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -100.90253-0.399 Picture PostScript Text
3' UTR -390.401276-0.306 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004241 - Atg8_ubiquitin-like

Pfam Domains:
PF02991 - Autophagy protein Atg8 ubiquitin like
PF04110 - Ubiquitin-like autophagy protein Apg12

SCOP Domains:
54236 - Ubiquitin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2L8J - NMR MuPIT 2R2Q - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9H0R8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0030957 Tat protein binding
GO:0031625 ubiquitin protein ligase binding
GO:0048487 beta-tubulin binding
GO:0050811 GABA receptor binding

Biological Process:
GO:0000045 autophagosome assembly
GO:0000422 mitophagy
GO:0006914 autophagy
GO:0006995 cellular response to nitrogen starvation
GO:0016236 macroautophagy
GO:0097352 autophagosome maturation

Cellular Component:
GO:0000421 autophagosome membrane
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005776 autophagosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0016020 membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0032590 dendrite membrane
GO:0032839 dendrite cytoplasm
GO:0044297 cell body
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  LF207423 - JP 2014500723-A/14926: Polycomb-Associated Non-Coding RNAs.
AF287012 - Homo sapiens early estrogen-regulated protein (GEC1) mRNA, complete cds.
LF207424 - JP 2014500723-A/14927: Polycomb-Associated Non-Coding RNAs.
AF087847 - Homo sapiens GABA-A receptor-associated protein like 1 (GABARAPL1) mRNA, complete cds.
JD405092 - Sequence 386116 from Patent EP1572962.
JD117845 - Sequence 98869 from Patent EP1572962.
AK303581 - Homo sapiens cDNA FLJ59143 complete cds, highly similar to Gamma-aminobutyric acid receptor-associated protein-like 1.
AK315418 - Homo sapiens cDNA, FLJ96471, highly similar to Homo sapiens GABA(A) receptor-associated protein like 1(GABARAPL1), mRNA.
AK074195 - Homo sapiens cDNA FLJ23615 fis, clone ADKA03291, highly similar to Homo sapiens GABA-A receptor-associated protein mRNA.
BC028315 - Homo sapiens GABA(A) receptor-associated protein like 1, mRNA (cDNA clone MGC:35365 IMAGE:5183078), complete cds.
BC009309 - Homo sapiens GABA(A) receptor-associated protein like 1, mRNA (cDNA clone MGC:16572 IMAGE:4100219), complete cds.
JD310283 - Sequence 291307 from Patent EP1572962.
AL136676 - Homo sapiens mRNA; cDNA DKFZp564N1272 (from clone DKFZp564N1272).
LF366077 - JP 2014500723-A/173580: Polycomb-Associated Non-Coding RNAs.
JN663881 - Homo sapiens GABARAPL1-a (GABARAPL1) mRNA, complete cds, alternatively spliced.
BX648781 - Homo sapiens mRNA; cDNA DKFZp686D21148 (from clone DKFZp686D21148).
BC008891 - Homo sapiens cDNA clone IMAGE:3836311, containing frame-shift errors.
JD058497 - Sequence 39521 from Patent EP1572962.
JD407818 - Sequence 388842 from Patent EP1572962.
AM393185 - Synthetic construct Homo sapiens clone IMAGE:100001882 for hypothetical protein (GABARAPL1 gene).
AM393189 - Synthetic construct Homo sapiens clone IMAGE:100001887 for hypothetical protein (GABARAPL1 gene).
AB463662 - Synthetic construct DNA, clone: pF1KB8105, Homo sapiens GABARAPL1 gene for GABA(A) receptor-associated protein like 1, without stop codon, in Flexi system.
DQ893103 - Synthetic construct clone IMAGE:100005733; FLH193766.01X; RZPDo839B1079D GABA(A) receptor-associated protein like 1 (GABARAPL1) gene, encodes complete protein.
DQ896375 - Synthetic construct Homo sapiens clone IMAGE:100010835; FLH193762.01L; RZPDo839B1069D GABA(A) receptor-associated protein like 1 (GABARAPL1) gene, encodes complete protein.
KJ893440 - Synthetic construct Homo sapiens clone ccsbBroadEn_02834 GABARAPL1 gene, encodes complete protein.
CR533480 - Homo sapiens full open reading frame cDNA clone RZPDo834A0917D for gene GABARAPL1, GABA(A) receptor-associated protein like 1; complete cds, incl. stopcodon.
LF366078 - JP 2014500723-A/173581: Polycomb-Associated Non-Coding RNAs.
AK056846 - Homo sapiens cDNA FLJ32284 fis, clone PROST2000241, moderately similar to GABA(A) receptor-associated protein.
AK092075 - Homo sapiens cDNA FLJ34756 fis, clone NT2NE2001655.
LF366082 - JP 2014500723-A/173585: Polycomb-Associated Non-Coding RNAs.
AK124150 - Homo sapiens cDNA FLJ42156 fis, clone THYMU2003907.
JD449092 - Sequence 430116 from Patent EP1572962.
JD436866 - Sequence 417890 from Patent EP1572962.
JD540073 - Sequence 521097 from Patent EP1572962.
LF366084 - JP 2014500723-A/173587: Polycomb-Associated Non-Coding RNAs.
JD102805 - Sequence 83829 from Patent EP1572962.
JD043061 - Sequence 24085 from Patent EP1572962.
JD376543 - Sequence 357567 from Patent EP1572962.
JD504648 - Sequence 485672 from Patent EP1572962.
LF366085 - JP 2014500723-A/173588: Polycomb-Associated Non-Coding RNAs.
JD555586 - Sequence 536610 from Patent EP1572962.
JD434856 - Sequence 415880 from Patent EP1572962.
JD358109 - Sequence 339133 from Patent EP1572962.
JD235231 - Sequence 216255 from Patent EP1572962.
JD222494 - Sequence 203518 from Patent EP1572962.
JD383080 - Sequence 364104 from Patent EP1572962.
JD373912 - Sequence 354936 from Patent EP1572962.
JD519921 - Sequence 500945 from Patent EP1572962.
JD393671 - Sequence 374695 from Patent EP1572962.
JD430028 - Sequence 411052 from Patent EP1572962.
JD320782 - Sequence 301806 from Patent EP1572962.
JD229172 - Sequence 210196 from Patent EP1572962.
JD227995 - Sequence 209019 from Patent EP1572962.
JD429775 - Sequence 410799 from Patent EP1572962.
JD261900 - Sequence 242924 from Patent EP1572962.
JD431810 - Sequence 412834 from Patent EP1572962.
JD547305 - Sequence 528329 from Patent EP1572962.
JD107743 - Sequence 88767 from Patent EP1572962.
JD049060 - Sequence 30084 from Patent EP1572962.
JD088748 - Sequence 69772 from Patent EP1572962.
JD423441 - Sequence 404465 from Patent EP1572962.
JD540963 - Sequence 521987 from Patent EP1572962.
JD359644 - Sequence 340668 from Patent EP1572962.
JD218930 - Sequence 199954 from Patent EP1572962.
LF366086 - JP 2014500723-A/173589: Polycomb-Associated Non-Coding RNAs.
JD483588 - Sequence 464612 from Patent EP1572962.
MA601654 - JP 2018138019-A/173580: Polycomb-Associated Non-Coding RNAs.
MA601655 - JP 2018138019-A/173581: Polycomb-Associated Non-Coding RNAs.
MA601659 - JP 2018138019-A/173585: Polycomb-Associated Non-Coding RNAs.
MA601661 - JP 2018138019-A/173587: Polycomb-Associated Non-Coding RNAs.
MA601662 - JP 2018138019-A/173588: Polycomb-Associated Non-Coding RNAs.
MA601663 - JP 2018138019-A/173589: Polycomb-Associated Non-Coding RNAs.
MA443000 - JP 2018138019-A/14926: Polycomb-Associated Non-Coding RNAs.
MA443001 - JP 2018138019-A/14927: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H0R8 (Reactome details) participates in the following event(s):

R-HSA-5681987 LC3 is cleaved by ATG4
R-HSA-5682377 LC3 de-lipidation by ATG4
R-HSA-5678490 ATG16L1 complex transfers LC3 from ATG3 to PE
R-HSA-5683593 ATG7:ATG3:LC3 dissociates
R-HSA-5682896 LC3:ATG7 dimer binds ATG3
R-HSA-5681981 ATG3 transfers LC3 from ATG7 to ATG3
R-HSA-1632852 Macroautophagy
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: B4E0Y7, ENST00000266458.1, ENST00000266458.2, ENST00000266458.3, ENST00000266458.4, ENST00000266458.5, ENST00000266458.6, ENST00000266458.7, ENST00000266458.8, ENST00000266458.9, GABARAPL1 , GBRL1_HUMAN, GEC1, NM_031412, Q6FIE6, Q9H0R8, uc317igz.1, uc317igz.2
UCSC ID: ENST00000266458.10_4
RefSeq Accession: NM_031412.4
Protein: Q9H0R8 (aka GBRL1_HUMAN or GRL1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.