GABARAP Gene (Protein Coding)

GABA Type A Receptor-Associated Protein

GC17M007240
GIFtS:
44
Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter rec... See more...

Aliases for GABARAP Gene

Aliases for GABARAP Gene

  • GABA Type A Receptor-Associated Protein 2 3 5
  • GABA(A) Receptor-Associated Protein 2 3 4
  • MM46 2 3 4
  • Gamma-Aminobutyric Acid Receptor-Associated Protein 3 4
  • ATG8A 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • GABARAP-A 3
  • GABARAP 5
  • FLC3B 4

External Ids for GABARAP Gene

Previous GeneCards Identifiers for GABARAP Gene

  • GC16M055704
  • GC17M007873
  • GC17M007086
  • GC17M007344
  • GC17M007084
  • GC17M007143
  • GC17M007035

Summaries for GABARAP Gene

Entrez Gene Summary for GABARAP Gene

  • Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. [provided by RefSeq, Jul 2008]

GeneCards Summary for GABARAP Gene

GABARAP (GABA Type A Receptor-Associated Protein) is a Protein Coding gene. Diseases associated with GABARAP include Stiff-Person Syndrome and Hyperoxaluria, Primary, Type Ii. Among its related pathways are TBC/RABGAPs and Macroautophagy. Gene Ontology (GO) annotations related to this gene include microtubule binding and GABA receptor binding. An important paralog of this gene is GABARAPL1.

UniProtKB/Swiss-Prot Summary for GABARAP Gene

  • Ubiquitin-like modifier that plays a role in intracellular transport of GABA(A) receptors and its interaction with the cytoskeleton. Involved in apoptosis. Involved in autophagy. While LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (PubMed:15977068). Through its interaction with the reticulophagy receptor TEX264, participates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover (PubMed:31006538).

Gene Wiki entry for GABARAP Gene

Additional gene information for GABARAP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GABARAP Gene

Genomics for GABARAP Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for GABARAP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABARAP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GABARAP

Top Transcription factor binding sites by QIAGEN in the GABARAP gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for GABARAP Gene

Genomic Locations for GABARAP Gene
chr17:7,240,008-7,242,449
(GRCh38/hg38)
Size:
2,442 bases
Orientation:
Minus strand
chr17:7,143,333-7,146,089
(GRCh37/hg19)
Size:
2,757 bases
Orientation:
Minus strand

Genomic View for GABARAP Gene

Genes around GABARAP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GABARAP Gene

Proteins for GABARAP Gene

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

    Protein Symbol:
    O95166-GBRAP_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor-associated protein
    Protein Accession:
    O95166

    Protein attributes for GABARAP Gene

    Size:
    117 amino acids
    Molecular mass:
    13918 Da
    Quaternary structure:
    • Interacts with GPHN and NSF (By similarity). Interacts with ATG3, ATG7, ATG13 (PubMed:11096062, PubMed:11825910, PubMed:12507496, PubMed:23043107). Interacts with alpha- and beta-tubulin (PubMed:9892355, PubMed:11729197). Interacts with GABRG2 (PubMed:9892355, PubMed:11729197). Interacts with RB1CC1 (PubMed:23043107). Interacts with ULK1 (PubMed:11146101, PubMed:23043107). Interacts with CALR (PubMed:19154346). Interacts with DDX47 (PubMed:15977068). Interacts with TP53INP1 and TP53INP2 (PubMed:19056683, PubMed:22421968, PubMed:22470510). Interacts with TBC1D5 and TBC1D25 (PubMed:21383079, PubMed:22354992). Directly interacts with SQSTM1 (PubMed:17580304, PubMed:24668264). Interacts with MAPK15 (PubMed:22948227). Interacts with TECPR2 (PubMed:20562859). Interacts with PCM1 (PubMed:24089205). Interacts with TRIM5 and TRIM21 (PubMed:25127057, PubMed:26347139). Interacts with MEFV (PubMed:26347139). Interacts with KIF21B (By similarity). Interacts with WDFY3; this interaction is required for WDFY3 recruitment to MAP1LC3B-positive p62/SQSTM1 bodies (PubMed:24668264). Interacts with the reticulophagy receptor TEX264 (PubMed:31006538). Interacts with FLCN; interaction regulates autophagy (PubMed:25126726).

    Three dimensional structures from OCA and Proteopedia for GABARAP Gene

neXtProt entry for GABARAP Gene

Protein Expression for GABARAP Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GABARAP Gene

  • The precursor molecule is cleaved by ATG4B to form the cytosolic form, GABARAP-I. This is activated by APG7L/ATG7, transferred to ATG3 and conjugated to phospholipid to form the membrane-bound form, GABARAP-II.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GABARAP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GABARAP Gene

Domains & Families for GABARAP Gene

Gene Families for GABARAP Gene

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

Protein Domains for GABARAP Gene

InterPro:
Blocks:
  • Light chain 3 (LC3)
ProtoNet:

Suggested Antigen Peptide Sequences for GABARAP Gene

GenScript: Design optimal peptide antigens:
  • MM46 (GBRAP_HUMAN)
  • HCG1987397, isoform CRA_b (Q6IAW1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95166

UniProtKB/Swiss-Prot:

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

Function for GABARAP Gene

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Molecular function for GABARAP Gene

UniProtKB/Swiss-Prot Function:
Ubiquitin-like modifier that plays a role in intracellular transport of GABA(A) receptors and its interaction with the cytoskeleton. Involved in apoptosis. Involved in autophagy. While LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (PubMed:15977068). Through its interaction with the reticulophagy receptor TEX264, participates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover (PubMed:31006538).
GENATLAS Biochemistry:
GABA (A) receptor-associated protein binding GABA-A receptors,gamma 2 subunit and linking the receptors to the cytoskeleton,highly homolog to microtubule associated proteins 1A and 1B ganglioside expression factor homolog 2

Phenotypes From GWAS Catalog for GABARAP Gene

Gene Ontology (GO) - Molecular Function for GABARAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9892355
GO:0008017 microtubule binding IBA --
GO:0031625 ubiquitin protein ligase binding IBA,IPI 25127057
GO:0048487 beta-tubulin binding IDA 9892355
GO:0050811 GABA receptor binding IBA,IPI 9892355
genes like me logo Genes that share ontologies with GABARAP: view
genes like me logo Genes that share phenotypes with GABARAP: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GABARAP

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABARAP

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

Localization for GABARAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABARAP Gene

Endomembrane system. Cytoplasm, cytoskeleton. Golgi apparatus membrane. Cytoplasmic vesicle, autophagosome. Cytoplasmic vesicle. Note=Largely associated with intracellular membrane structures including the Golgi apparatus and postsynaptic cisternae. Colocalizes with microtubules (By similarity). Localizes also to discrete punctae along the ciliary axoneme (By similarity). {ECO:0000250 UniProtKB:P60517, ECO:0000250 UniProtKB:Q9DCD6}.

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 GABARAP gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
cytosol 4
lysosome 4
golgi apparatus 4
nucleus 3
endoplasmic reticulum 3
extracellular 2
mitochondrion 2
peroxisome 2
endosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GABARAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0000421 autophagosome membrane IBA,TAS --
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA --
GO:0005776 autophagosome IBA,IDA 19056683
genes like me logo Genes that share ontologies with GABARAP: view

Pathways & Interactions for GABARAP Gene

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

Pathways by source for GABARAP Gene

1 BioSystems pathway for GABARAP Gene

SIGNOR curated interactions for GABARAP Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for GABARAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IBA 21873635
GO:0000226 microtubule cytoskeleton organization IEA --
GO:0000422 autophagy of mitochondrion IBA 21873635
GO:0006605 protein targeting TAS 9892355
GO:0006914 autophagy IEA --
genes like me logo Genes that share ontologies with GABARAP: view

Drugs & Compounds for GABARAP Gene

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  1. Drug

(3) Drugs for GABARAP Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
gamma-Aminobutyric acid Approved, Investigational Pharma 25

(1) Additional Compounds for GABARAP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GABARAP: view

Transcripts for GABARAP Gene

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mRNA/cDNA for GABARAP Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABARAP

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b
SP1: - -
SP2: -
SP3: - - -
SP4: -

Relevant External Links for GABARAP Gene

GeneLoc Exon Structure for
GABARAP

Expression for GABARAP Gene

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

mRNA expression in normal human tissues for GABARAP Gene
mRNA expression by BioGPS for GABARAP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GABARAP Gene

This gene is overexpressed in Frontal cortex (11.7) and Fetal gut (7.5).

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



Protein tissue co-expression partners for GABARAP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GABARAP

SOURCE GeneReport for Unigene cluster for GABARAP Gene:

Hs.647421

mRNA Expression by UniProt/SwissProt for GABARAP Gene:

O95166-GBRAP_HUMAN
Tissue specificity: Heart, brain, placenta, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for GABARAP Gene

  • Nervous system(5)
  • Pancreas(4.1)
  • Thyroid gland(4)
  • Lung(3.6)
  • Eye(3.5)
  • Skin(3.5)
  • Muscle(3.4)
  • Kidney(3.4)
  • Blood(3.4)
  • Heart(3.3)
  • Liver(3.2)
  • Intestine(3.2)
  • Spleen(3.1)
  • Lymph node(3)
  • Adrenal gland(3)
  • Bone marrow(2.9)
  • Stomach(2.9)
  • Gall bladder(2.3)
genes like me logo Genes that share expression patterns with GABARAP: view

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

Orthologs for GABARAP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GABARAP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia GABARAP 30 31
  • 99.72 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GABARAP 30 31
  • 96.01 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Gabarap 30
  • 95.44 (n)
Mouse
(Mus musculus)
 Mammalia Gabarap 30 17 31
  • 95.44 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GABARAP 30 31
  • 95.44 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 70 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 31 (a)
 ManyToMany
Zebrafish
(Danio rerio)
 Actinopterygii GABARAP (2 of 2) 31
  • 97 (a)
 OneToMany
gabarapa 30 31
  • 81.9 (n)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Atg8a 31
  • 88 (a)
 OneToMany
CG12334 32
  • 77 (a)
Atg8b 31
  • 75 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea lgg-1 31 32
  • 79 (a)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ATG8 31
  • 55 (a)
 OneToMany
Species where no ortholog for GABARAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for GABARAP Gene

ENSEMBL:
Gene Tree for GABARAP (if available)
TreeFam:
Gene Tree for GABARAP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GABARAP: view image

Paralogs for GABARAP Gene

Paralogs for GABARAP Gene

(9) SIMAP similar genes for GABARAP Gene using alignment to 5 proteins:

  • GBRAP_HUMAN
  • H6UMI1_HUMAN
  • I3L236_HUMAN
  • I3L3J4_HUMAN
  • Q6IAW1_HUMAN

Pseudogenes.org Pseudogenes for GABARAP Gene

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

Variants for GABARAP Gene

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Additional dbSNP identifiers (rs#s) for GABARAP Gene

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

Variant ID Type Subtype PubMed ID
esv2422288 CNV deletion 17116639
esv2665200 CNV deletion 23128226
esv3639861 CNV loss 21293372
nsv457659 CNV loss 19166990
nsv574322 CNV loss 21841781
nsv952118 CNV deletion 24416366

Variation tolerance for GABARAP Gene

Residual Variation Intolerance Score: 48.3% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABARAP Gene

Human Gene Mutation Database (HGMD)
GABARAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABARAP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GABARAP Gene

Disorders for GABARAP Gene

MalaCards: The human disease database

(4) MalaCards diseases for GABARAP Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GABARAP

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

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

Publications for GABARAP Gene

  1. GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton. (PMID: 9892355) Wang H … Olsen RW (Nature 1999) 2 3 4 23
  2. Structural framework of the GABARAP-calreticulin interface--implications for substrate binding to endoplasmic reticulum chaperones. (PMID: 19154346) Thielmann Y … Willbold D (The FEBS journal 2009) 3 4 23
  3. The TP53INP2 protein is required for autophagy in mammalian cells. (PMID: 19056683) Nowak J … Iovanna JL (Molecular biology of the cell 2009) 3 4 23
  4. Human Apg3p/Aut1p homologue is an authentic E2 enzyme for multiple substrates, GATE-16, GABARAP, and MAP-LC3, and facilitates the conjugation of hApg12p to hApg5p. (PMID: 11825910) Tanida I … Kominami E (The Journal of biological chemistry 2002) 3 4 23
  5. Solution structure of human GABA(A) receptor-associated protein GABARAP: implications for biolgoical funcrion and its regulation. (PMID: 11875056) Stangler T … Willbold D (The Journal of biological chemistry 2002) 3 4 23

ExternalLinks

View latest publications for GABARAP gene in Mastermind

Products for GABARAP Gene

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