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Aliases for GABARAPL1 Gene

Aliases for GABARAPL1 Gene

  • GABA Type A Receptor Associated Protein Like 1 2 3 5
  • GABA(A) Receptor-Associated Protein-Like 1 3 4
  • Glandular Epithelial Cell Protein 1 3 4
  • Early Estrogen-Regulated Protein 3 4
  • GEC-1 3 4
  • GEC1 3 4
  • Gamma-Aminobutyric Acid Receptor-Associated Protein-Like 1 3
  • GABA(A) Receptor-Associated Protein Like 1 2
  • GABARAPL1-A 3
  • APG8-LIKE 3
  • APG8L 3
  • ATG8B 3
  • ATG8L 3
  • ATG8 3

External Ids for GABARAPL1 Gene

Previous GeneCards Identifiers for GABARAPL1 Gene

  • GC12P010048
  • GC12P010488
  • GC12P010265
  • GC12P010256
  • GC12P010365
  • GC12P010108

Summaries for GABARAPL1 Gene

GeneCards Summary for GABARAPL1 Gene

GABARAPL1 (GABA Type A Receptor Associated Protein Like 1) is a Protein Coding gene. Diseases associated with GABARAPL1 include Amyotrophic Lateral Sclerosis Type 14 and Retinitis Pigmentosa. Among its related pathways are Mitophagy - animal and Autophagy Pathway. Gene Ontology (GO) annotations related to this gene include microtubule binding and GABA receptor binding. An important paralog of this gene is GABARAP.

UniProtKB/Swiss-Prot for GABARAPL1 Gene

  • Ubiquitin-like modifier that increases cell-surface expression of kappa-type opioid receptor through facilitating anterograde intracellular trafficking of the receptor. Involved in formation of autophagosomal vacuoles. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation.

Additional gene information for GABARAPL1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABARAPL1 Gene

Genomics for GABARAPL1 Gene

GeneHancer (GH) Regulatory Elements for GABARAPL1 Gene

Promoters and enhancers for GABARAPL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I010211 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 556.3 +1.4 1376 5.3 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 GABARAPL1 ENSG00000255958 KLRA1P TAS2R31 TAS2R20 TAS2R19 TAS2R14 TAS2R10 KLRD1 CLEC7A
GH12I010715 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.1 +507.6 507636 8.8 CLOCK FOXA2 SMAD1 MLX ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 YBX3 KLRA1P TAS2R20 TAS2R31 TAS2R43 MAGOHB TAS2R14 TAS2R50 TAS2R15P TAS2R10
GH12I010611 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.1 +400.9 400887 2.9 HDGF SMAD1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 MAGOHB ENSG00000213443 KLRA1P EIF2S3B TAS2R43 TAS2R50 ENSG00000257027 ENSG00000256682 STYK1 CLEC2D
GH12I010360 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +151.8 151782 7.3 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF213 ZNF143 SP3 LOC101928100 KLRK1 DDX12P ENSG00000213443 KLRA1P EIF2S3B ENSG00000257027 ENSG00000256682 CLEC2D ENSG00000255958
GH12I010303 Promoter/Enhancer 1.5 EPDnew FANTOM5 ENCODE dbSUPER 11.1 +92.6 92604 3.5 JUNB STAT3 FOS BATF EP300 RUNX3 KLRD1 KLRC4-KLRK1 KLRF1 KLRC3 KLRK1 KLRC4 ENSG00000255958 GABARAPL1 KLRC1 KLRC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GABARAPL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GABARAPL1 gene promoter:

Genomic Locations for GABARAPL1 Gene

Genomic Locations for GABARAPL1 Gene
chr12:10,212,458-10,223,130
(GRCh38/hg38)
Size:
10,673 bases
Orientation:
Plus strand
chr12:10,365,057-10,375,727
(GRCh37/hg19)

Genomic View for GABARAPL1 Gene

Genes around GABARAPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABARAPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABARAPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABARAPL1 Gene

Proteins for GABARAPL1 Gene

  • Protein details for GABARAPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0R8-GBRL1_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor-associated protein-like 1
    Protein Accession:
    Q9H0R8
    Secondary Accessions:
    • B4E0Y7
    • Q6FIE6

    Protein attributes for GABARAPL1 Gene

    Size:
    117 amino acids
    Molecular mass:
    14044 Da
    Quaternary structure:
    • Interacts with GABRG2 and beta-tubulin (By similarity). Interacts with ATG13, OPRK1, RB1CC1 and ULK1. Interacts with TP53INP1 and TP53INP2. Directly interacts with SQSTM1. Interacts with ATG3, ATG7 and MAP15. Interacts with TECPR2. Interacts with TBC1D5 (PubMed:22354992). Interacts with TRIM5 (PubMed:25127057). Interacts with MEFV and TRIM21 (PubMed:26347139). Interacts with WDFY3 (PubMed:24668264).

    Three dimensional structures from OCA and Proteopedia for GABARAPL1 Gene

    Alternative splice isoforms for GABARAPL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABARAPL1 Gene

Post-translational modifications for GABARAPL1 Gene

  • The Legionella effector RavZ is a deconjugating enzyme that produces an ATG8 product that would be resistant to reconjugation by the host machinery due to the cleavage of the reactive C-terminal glycine.
  • The precursor molecule is cleaved by ATG4B to form the cytosolic form, GABARAPL1-I. This is activated by APG7L/ATG7, transferred to ATG3 and conjugated to phospholipid to form the membrane-bound form, GABARAPL1-II (By similarity). ATG4B also mediates the delipidation required for GABARAPL1 recycling when autophagosomes fuse with lysosomes (PubMed:20404487).

No data available for DME Specific Peptides for GABARAPL1 Gene

Domains & Families for GABARAPL1 Gene

Gene Families for GABARAPL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GABARAPL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H0R8

UniProtKB/Swiss-Prot:

GBRL1_HUMAN :
  • Belongs to the ATG8 family.
Family:
  • Belongs to the ATG8 family.
genes like me logo Genes that share domains with GABARAPL1: view

Function for GABARAPL1 Gene

Molecular function for GABARAPL1 Gene

UniProtKB/Swiss-Prot Function:
Ubiquitin-like modifier that increases cell-surface expression of kappa-type opioid receptor through facilitating anterograde intracellular trafficking of the receptor. Involved in formation of autophagosomal vacuoles. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation.

Phenotypes From GWAS Catalog for GABARAPL1 Gene

Gene Ontology (GO) - Molecular Function for GABARAPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9892355
GO:0030957 Tat protein binding IPI 22354992
GO:0031625 ubiquitin protein ligase binding IPI 25127057
GO:0048487 beta-tubulin binding ISS --
GO:0050811 GABA receptor binding ISS --
genes like me logo Genes that share ontologies with GABARAPL1: view
genes like me logo Genes that share phenotypes with GABARAPL1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GABARAPL1 Gene

Localization for GABARAPL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABARAPL1 Gene

Cytoplasm, cytoskeleton. Cytoplasmic vesicle membrane; Lipid-anchor. Endoplasmic reticulum. Golgi apparatus. Cytoplasmic vesicle, autophagosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GABARAPL1 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 3
lysosome 3
mitochondrion 2
nucleus 2
endosome 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GABARAPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000421 autophagosome membrane TAS --
GO:0005622 intracellular IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 colocalizes_with mitochondrion IGI 20200478
GO:0005776 autophagosome IDA 15292400
genes like me logo Genes that share ontologies with GABARAPL1: view

Pathways & Interactions for GABARAPL1 Gene

genes like me logo Genes that share pathways with GABARAPL1: view

Pathways by source for GABARAPL1 Gene

1 GeneTex pathway for GABARAPL1 Gene
1 BioSystems pathway for GABARAPL1 Gene

SIGNOR curated interactions for GABARAPL1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for GABARAPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IBA --
GO:0000422 autophagy of mitochondrion IBA --
GO:0006914 autophagy IEA --
GO:0006995 cellular response to nitrogen starvation IBA --
GO:0016236 macroautophagy TAS --
genes like me logo Genes that share ontologies with GABARAPL1: view

Drugs & Compounds for GABARAPL1 Gene

(1) Drugs for GABARAPL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
gamma-Aminobutyric acid Approved, Investigational Pharma 263
genes like me logo Genes that share compounds with GABARAPL1: view

Transcripts for GABARAPL1 Gene

Unigene Clusters for GABARAPL1 Gene

GABA(A) receptor-associated protein like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GABARAPL1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c · 10d
SP1: - - - - - - - - -
SP2: - -
SP3: - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - -
SP6: - - - -
SP7: - - -
SP8: -
SP9: - - - - - - - -
SP10: - - -
SP11: - - - - - - - - - -
SP12: - - - -

Relevant External Links for GABARAPL1 Gene

GeneLoc Exon Structure for
GABARAPL1
ECgene alternative splicing isoforms for
GABARAPL1

Expression for GABARAPL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GABARAPL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GABARAPL1 Gene

This gene is overexpressed in Frontal cortex (15.5), Skin (10.5), Retina (10.1), Heart (8.8), and Placenta (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GABARAPL1 Gene



Protein tissue co-expression partners for GABARAPL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GABARAPL1 Gene:

GABARAPL1

SOURCE GeneReport for Unigene cluster for GABARAPL1 Gene:

Hs.524250

mRNA Expression by UniProt/SwissProt for GABARAPL1 Gene:

Q9H0R8-GBRL1_HUMAN
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. In the brain, expression is particularly intense in motoneurons in the embryo and in neurons involved in somatomotor and neuroendocrine functions in the adult, particularly in the substantia nigra pars compacta.

Evidence on tissue expression from TISSUES for GABARAPL1 Gene

  • Intestine(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with GABARAPL1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GABARAPL1 Gene

Orthologs for GABARAPL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GABARAPL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GABARAPL1 33
  • 99.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia GABARAPL1 33
  • 95.16 (n)
cow
(Bos Taurus)
Mammalia GABARAPL1 33
  • 94.3 (n)
mouse
(Mus musculus)
Mammalia Gabarapl1 33 16
  • 92.88 (n)
rat
(Rattus norvegicus)
Mammalia Gabarapl1 33
  • 91.74 (n)
oppossum
(Monodelphis domestica)
Mammalia GABARAPL1 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABARAPL1 33
  • 86.32 (n)
lizard
(Anolis carolinensis)
Reptilia GABARAPL1 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabarapl1 33
  • 81.2 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC793200 33
  • 76.07 (n)
CR847510.1 34
  • 34 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Atg8a 33
  • 74.71 (n)
CG12334 35
  • 73 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002685 33
  • 71.84 (n)
worm
(Caenorhabditis elegans)
Secernentea lgg-1 35 33
  • 71.84 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATG8 33 34
  • 56.13 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E20593g 33
  • 53.45 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER396W 33
  • 53.39 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATG8D 33
  • 61.36 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.28658 33
bread mold
(Neurospora crassa)
Ascomycetes NCU01545 33
  • 59.2 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes atg8 33
  • 56.61 (n)
Species where no ortholog for GABARAPL1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for GABARAPL1 Gene

ENSEMBL:
Gene Tree for GABARAPL1 (if available)
TreeFam:
Gene Tree for GABARAPL1 (if available)

Paralogs for GABARAPL1 Gene

Paralogs for GABARAPL1 Gene

Pseudogenes.org Pseudogenes for GABARAPL1 Gene

genes like me logo Genes that share paralogs with GABARAPL1: view

Variants for GABARAPL1 Gene

Sequence variations from dbSNP and Humsavar for GABARAPL1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000200132 -- 10,212,188(+) G/T upstream_transcript_variant
rs1000249384 -- 10,212,379(+) C/T upstream_transcript_variant
rs1000548211 -- 10,210,983(+) G/C upstream_transcript_variant
rs1000692444 -- 10,216,905(+) T/G intron_variant
rs1000723120 -- 10,216,691(+) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GABARAPL1 Gene

Variant ID Type Subtype PubMed ID
nsv1054811 CNV loss 25217958

Variation tolerance for GABARAPL1 Gene

Residual Variation Intolerance Score: 44.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.05; 1.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABARAPL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABARAPL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABARAPL1 Gene

Disorders for GABARAPL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GABARAPL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis type 14
  • amyotrophic lateral sclerosis 14 with or without frontotemporal dementia
retinitis pigmentosa
  • rp
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GABARAPL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GABARAPL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GABARAPL1 Gene

Publications for GABARAPL1 Gene

  1. Cloning, expression patterns, and chromosome localization of three human and two mouse homologues of GABA(A) receptor-associated protein. (PMID: 11414770) Xin Y … Zhao S (Genomics 2001) 2 3 4 22 58
  2. A novel early estrogen-regulated gene gec1 encodes a protein related to GABARAP. (PMID: 11374880) Vernier-Magnin S … Fraichard A (Biochemical and biophysical research communications 2001) 2 3 4 22 58
  3. TRIM-mediated precision autophagy targets cytoplasmic regulators of innate immunity. (PMID: 26347139) Kimura T … Deretic V (The Journal of cell biology 2015) 3 4 58
  4. TRIM proteins regulate autophagy and can target autophagic substrates by direct recognition. (PMID: 25127057) Mandell MA … Deretic V (Developmental cell 2014) 3 4 58
  5. Structural determinants in GABARAP required for the selective binding and recruitment of ALFY to LC3B-positive structures. (PMID: 24668264) Lystad AH … Simonsen A (EMBO reports 2014) 3 4 58

Products for GABARAPL1 Gene

Sources for GABARAPL1 Gene

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