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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 3 4
  • Gamma-Aminobutyric Acid Receptor-Associated Protein 3
  • GABARAP-A 3
  • ATG8A 3
  • 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 Cataract 31, Multiple Types. Among its related pathways are GABAergic synapse and FoxO signaling pathway. GO annotations related to this gene include microtubule binding and GABA receptor binding. An important paralog of this gene is GABARAPL1.

UniProtKB/Swiss-Prot 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. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation.

Gene Wiki entry for GABARAP Gene

Additional gene information for GABARAP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABARAP Gene

Genomics for GABARAP Gene

Regulatory Elements for GABARAP Gene

Enhancers for GABARAP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H007312 1.3 ENCODE dbSUPER 10.4 -71.8 -71775 4 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 EIF5A ACAP1 SLC2A4 ENSG00000202251 CLDN7 CTDNEP1 ELP5 GABARAP PHF23 DVL2
GH17H007171 1.2 Ensembl ENCODE 10.7 +69.1 69090 4 FOXA2 ZNF473 ZSCAN4 YBX1 NFXL1 GLI4 RAD21 ZNF354C ZNF207 KLF7 DVL2 CNTROB WRAP53 NLGN2 CYB5D1 NEURL4 LOC100996842 SNORD10 ELP5 DLG4
GH17H007256 1.6 Ensembl ENCODE dbSUPER 7.1 -18.0 -18028 8 HDGF FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B ELP5 YBX2 CLDN7 CNTROB WRAP53 POLR2A GABARAP SLC2A4 DLG4 ENSG00000262302
GH17H007233 1.5 ENCODE dbSUPER 7.5 +4.1 4090 11 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 SP3 NFYC MEF2D DVL2 CNTROB SNORD10 SNORA48 WRAP53 POLR2A NEURL4 KCTD11 NLGN2 PLSCR3
GH17H007177 1 ENCODE 10.7 +64.9 64922 1 ATF1 ARID4B SIN3A DMAP1 YY1 GLIS2 ZNF143 ATF7 SP3 SP5 ENSG00000262067 LOC105371508 SPEM1 SLC16A11 ACADVL DLG4 SLC16A13 CTDNEP1 ELP5 MIR324
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GABARAP on UCSC Golden Path with GeneCards custom track

Promoters for GABARAP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000282289 270 2201 MLX FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1

Genomic Location for GABARAP Gene

Chromosome:
17
Start:
7,240,014 bp from pter
End:
7,242,770 bp from pter
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 StructureGene Density

RefSeq DNA sequence for GABARAP Gene

Proteins for GABARAP Gene

  • 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, RB1CC1, GABRG2, beta-tubulin and ULK1 (PubMed:11825910, PubMed:12507496, PubMed:11096062, PubMed:23043107, PubMed:11146101, PubMed:9892355, PubMed:11729197). Interacts with CALR (PubMed:19154346). Interacts with DDX47 (PubMed:15977068). Interacts with TP53INP1 and TP53INP2 (PubMed:19056683, PubMed:22470510, PubMed:22421968). Interacts with TBC1D25 (PubMed:21383079). Directly interacts with SQSTM1 (PubMed:17580304). Interacts with MAPK15 (PubMed:22948227). Interacts with TECPR2 and PCM1 (PubMed:20562859, PubMed:24089205). Interacts with TBC1D5 (PubMed:22354992). Interacts with TRIM5 (PubMed:25127057). Interacts with MEFV and TRIM21 (PubMed:26347139). Interacts with KIF21B (By similarity).

    Three dimensional structures from OCA and Proteopedia for GABARAP Gene

neXtProt entry for GABARAP Gene

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GABARAP (GABARAP)
  • Santa Cruz Biotechnology (SCBT) Antibodies for GABARAP

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

Suggested Antigen Peptide Sequences for GABARAP Gene

GenScript: Design optimal peptide antigens:

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

Molecular function for GABARAP Gene

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
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. 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 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 IEA --
GO:0031625 ubiquitin protein ligase binding IPI 25127057
GO:0048487 beta-tubulin binding IDA 9892355
GO:0050811 GABA receptor binding 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

Clone Products

  • Applied Biological Materials Clones for GABARAP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 5
cytoskeleton 5
cytosol 5
lysosome 4
golgi apparatus 4
endoplasmic reticulum 3
nucleus 2
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 TAS --
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA --
GO:0005776 autophagosome IEA,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

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 --
GO:0000226 microtubule cytoskeleton organization IEA --
GO:0000422 mitophagy IBA --
GO:0006605 protein targeting TAS 9892355
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with GABARAP: view

Drugs & Compounds for GABARAP Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
gamma-Aminobutyric acid Investigational Pharma 254

(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

Unigene Clusters for GABARAP Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GABARAP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
GABARAP

Expression for GABARAP Gene

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

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, PaxDb, MaxQB, and MOPED for GABARAP Gene



Protein tissue co-expression partners for GABARAP Gene

NURSA nuclear receptor signaling pathways regulating expression of GABARAP Gene:

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(4.9)
  • Pancreas(3.7)
  • Thyroid gland(3.7)
  • Lung(3.2)
  • Kidney(2.9)
  • Eye(2.8)
  • Muscle(2.8)
  • Blood(2.6)
  • Adrenal gland(2.5)
  • Liver(2.5)
  • Skin(2.4)
  • Spleen(2.4)
  • Bone marrow(2.3)
  • Gall bladder(2.3)
  • Heart(2.3)
  • Intestine(2.3)
  • Lymph node(2.3)
  • Stomach(2.3)
genes like me logo Genes that share expression patterns with GABARAP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 33 34
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia GABARAP 33 34
  • 96.01 (n)
cow
(Bos Taurus)
Mammalia GABARAP 33 34
  • 95.44 (n)
mouse
(Mus musculus)
Mammalia Gabarap 33 16 34
  • 95.44 (n)
rat
(Rattus norvegicus)
Mammalia Gabarap 33
  • 95.44 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 70 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 31 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii GABARAP (2 of 2) 34
  • 97 (a)
OneToMany
gabarapa 33 34
  • 81.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta Atg8a 34
  • 88 (a)
OneToMany
CG12334 35
  • 77 (a)
Atg8b 34
  • 75 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lgg-1 35 34
  • 83 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATG8 34
  • 55 (a)
OneToMany
Species where no ortholog for GABARAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • 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)

Paralogs for GABARAP Gene

Paralogs for GABARAP Gene

Pseudogenes.org Pseudogenes for GABARAP Gene

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

Variants for GABARAP Gene

Sequence variations from dbSNP and Humsavar for GABARAP Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000459012 -- 7,240,108(+) TTCGG(A/C)ACTTT downstream-variant-500B, upstream-variant-2KB
rs1000557803 -- 7,240,386(+) TCAGC(A/G)GGACG downstream-variant-500B, upstream-variant-2KB
rs1001311160 -- 7,243,687(+) AAAAA(C/T)AGAGG upstream-variant-2KB, utr-variant-3-prime
rs1002182880 -- 7,241,521(+) AACAG(C/T)TGCTA intron-variant
rs1002502621 -- 7,243,759(+) CACAG(C/G)CCAGC upstream-variant-2KB, utr-variant-3-prime

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)

Relevant External Links 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 for GABARAP Gene

Disorders for GABARAP Gene

MalaCards: The human disease database

(3) MalaCards diseases for GABARAP Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
stiff-person syndrome
  • stiff man syndrome
cataract 31, multiple types
  • cataract 31 multiple types
mental retardation, x-linked, syndromic 15
  • syndromic x-linked intellectual disability cabezas type
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GABARAP

Genetic Association Database (GAD)
GABARAP
Human Genome Epidemiology (HuGE) Navigator
GABARAP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABARAP
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 22 60
  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 22 60
  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 22 60
  4. 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 22 60
  5. 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 22 60

Products for GABARAP Gene

Sources for GABARAP Gene

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