ABHD13 Gene (Protein Coding)

Abhydrolase Domain Containing 13

GC13P108218
GIFtS:
34
See more...

Aliases for ABHD13 Gene

Aliases for ABHD13 Gene

  • Abhydrolase Domain Containing 13 2 3 5
  • Alpha/Beta Hydrolase Domain-Containing Protein 13 3 4
  • Abhydrolase Domain-Containing Protein 13 3 4
  • Protein ABHD13 3 4
  • BA153I24.2 2 3
  • BEM46L1 2 3
  • C13orf6 3 4
  • Chromosome 13 Open Reading Frame 6 2
  • EC 3.-.-.- 4
  • FLJ14906 2
  • ABHD13 5

External Ids for ABHD13 Gene

Previous HGNC Symbols for ABHD13 Gene

  • C13orf6

Previous GeneCards Identifiers for ABHD13 Gene

  • GC13P107670
  • GC13P108870
  • GC13P089461

Summaries for ABHD13 Gene

GeneCards Summary for ABHD13 Gene

ABHD13 (Abhydrolase Domain Containing 13) is a Protein Coding gene. Diseases associated with ABHD13 include Hypotonia-Cystinuria Syndrome. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is ABHD12B.

Additional gene information for ABHD13 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABHD13 Gene

Genomics for ABHD13 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ABHD13 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
GH13J108211 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 629.8 -2.4 -2380 8.8 CEBPG SP1 HNRNPL PRDM10 ZNF629 TFE3 IKZF1 NFKBIZ KDM1A ZNF692 ABHD13 LIG4 lnc-ABHD13-1 FAM155A
GH13J108266 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 23.7 +48.5 48509 1.8 YY1 SPI1 GABPA POLR2A MLLT1 ENSG00000277246 ABHD13 TNFSF13B LIG4 MYO16
GH13J108268 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 11.8 +52.3 52296 4.6 STAT3 ZNF143 RELA ZNF24 IKZF2 RCOR1 TRIM22 POLR2A EED SIN3A TNFSF13B LIG4 ABHD13 ENSG00000277246 RF00001-109 RNA5SP39 MYO16
GH13J108769 Enhancer 1.1 Ensembl ENCODE 12.6 +551.2 551238 1 LEF1 IKZF1 JUND DDX20 PHF21A PKNOX1 REST BRD9 ZNF24 DPF2 ABHD13 piR-34822-085 lnc-TNFSF13B-4 MYO16
GH13J108326 Enhancer 0.6 FANTOM5 20.4 +108.1 108076 0.1 GABPA CEBPA ELK1 FOXA2 ELF1 GABPB1 SPI1 TBX21 SRF FOXA3 LOC105370355 ABHD13 LIG4 TNFSF13B RNA5SP39 RF00001-109 MYO16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABHD13 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABHD13

Top Transcription factor binding sites by QIAGEN in the ABHD13 gene promoter:
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • p300
  • POU6F1 (c2)
  • RP58
  • STAT5A
  • ZID

Genomic Locations for ABHD13 Gene

Genomic Locations for ABHD13 Gene
chr13:108,218,392-108,235,440
(GRCh38/hg38)
Size:
17,049 bases
Orientation:
Plus strand
chr13:108,870,727-108,886,603
(GRCh37/hg19)
Size:
15,877 bases
Orientation:
Plus strand

Genomic View for ABHD13 Gene

Genes around ABHD13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD13 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ABHD13 Gene

Proteins for ABHD13 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ABHD13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L211-ABHDD_HUMAN
    Recommended name:
    Protein ABHD13
    Protein Accession:
    Q7L211
    Secondary Accessions:
    • B3KWE7
    • Q8NBW1
    • Q96JX9

    Protein attributes for ABHD13 Gene

    Size:
    337 amino acids
    Molecular mass:
    38548 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH70226.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AK075195; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=BAB55387.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ABHD13 Gene

Protein Expression for ABHD13 Gene

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

Post-translational modifications for ABHD13 Gene

  • Glycosylation at Asn299
  • Modification sites at PhosphoSitePlus

Other Protein References for ABHD13 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ABHD13 Gene

Domains & Families for ABHD13 Gene

Gene Families for ABHD13 Gene

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

Protein Domains for ABHD13 Gene

InterPro:
Blocks:
  • Alpha/beta hydrolase fold signature
ProtoNet:

Suggested Antigen Peptide Sequences for ABHD13 Gene

GenScript: Design optimal peptide antigens:
  • Abhydrolase domain-containing protein 13 (ABHDD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7L211

UniProtKB/Swiss-Prot:

ABHDD_HUMAN :
  • Belongs to the serine esterase family.
Family:
  • Belongs to the serine esterase family.
genes like me logo Genes that share domains with ABHD13: view

Function for ABHD13 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Enzyme Numbers (IUBMB) for ABHD13 Gene

Phenotypes From GWAS Catalog for ABHD13 Gene

Gene Ontology (GO) - Molecular Function for ABHD13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008474 palmitoyl-(protein) hydrolase activity IEA,IBA 21873635
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ABHD13: view
genes like me logo Genes that share phenotypes with ABHD13: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ABHD13

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD13

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABHD13 Gene

Localization for ABHD13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD13 Gene

Membrane. Single-pass type II membrane protein.

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 ABHD13 gene
Compartment Confidence
plasma membrane 2
cytosol 2
extracellular 1
lysosome 1
peroxisome 0
nucleus 0
endoplasmic reticulum 0

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ABHD13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
GO:0032839 dendrite cytoplasm IEA --
genes like me logo Genes that share ontologies with ABHD13: view

Pathways & Interactions for ABHD13 Gene

PathCards logo

SuperPathways for ABHD13 Gene

No Data Available

Interacting Proteins for ABHD13 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 11)
STRING Interaction Network
Selected Interacting proteins: ENSP00000365063 Q7L211-ABHDD_HUMAN for ABHD13 Gene via STRING IID

GPS-Prot Interaction Network for ABHD13

Gene Ontology (GO) - Biological Process for ABHD13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002084 protein depalmitoylation IEA --
genes like me logo Genes that share ontologies with ABHD13: view

No data available for Pathways by source and SIGNOR curated interactions for ABHD13 Gene

Drugs & Compounds for ABHD13 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ABHD13 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ABHD13 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 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 ABHD13

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD13 Gene

No ASD Table

Relevant External Links for ABHD13 Gene

GeneLoc Exon Structure for
ABHD13

Expression for ABHD13 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABHD13 Gene

mRNA expression in normal human tissues for ABHD13 Gene
mRNA expression by GTEx for ABHD13 GenemRNA expression by BioGPS for ABHD13 Gene

Protein differential expression in normal tissues from HIPED for ABHD13 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (49.4), Placenta (10.7), and Islet of Langerhans (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABHD13 Gene



Protein tissue co-expression partners for ABHD13 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABHD13

SOURCE GeneReport for Unigene cluster for ABHD13 Gene:

Hs.183528

Evidence on tissue expression from TISSUES for ABHD13 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with ABHD13: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD13 Gene

Orthologs for ABHD13 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABHD13 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ABHD13 30 31
  • 99.8 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ABHD13 31
  • 96 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ABHD13 30 31
  • 94.86 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ABHD13 30 31
  • 91.2 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Abhd13 30 17 31
  • 86.15 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Abhd13 30
  • 85.95 (n)
Chicken
(Gallus gallus)
 Aves ABHD13 30 31
  • 86.25 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ABHD13 31
  • 93 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia abhd13 30
  • 77.88 (n)
Str.12504 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.12577 30
Zebrafish
(Danio rerio)
 Actinopterygii abhd13 30 31
  • 68.25 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Bem46 30 31
  • 49.4 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008746 30
  • 48.21 (n)
Worm
(Caenorhabditis elegans)
 Secernentea F01D5.8 31
  • 17 (a)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes YNL320W 30
  • 47.69 (n)
-- 31
  • 37 (a)
 OneToMany
-- 33
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E20989g 30
  • 47.66 (n)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ADL187W 30
  • 43.14 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons WAV2 30
  • 48.16 (n)
Rice
(Oryza sativa)
 Liliopsida Os07g0608300 30
  • 48.01 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes bem46 30
  • 51.56 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU03276 30
  • 47.09 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.2268 31
  • 42 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.8795 30
Species where no ortholog for ABHD13 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for ABHD13 Gene

ENSEMBL:
Gene Tree for ABHD13 (if available)
TreeFam:
Gene Tree for ABHD13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD13: view image

Paralogs for ABHD13 Gene

Paralogs for ABHD13 Gene

genes like me logo Genes that share paralogs with ABHD13: view

Variants for ABHD13 Gene

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  1. SNP Genotyping and Copy Number Assay

Additional dbSNP identifiers (rs#s) for ABHD13 Gene

Variation tolerance for ABHD13 Gene

Residual Variation Intolerance Score: 63.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.52; 11.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABHD13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for ABHD13 Gene

Disorders for ABHD13 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABHD13 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypotonia-cystinuria syndrome
  • cystinuria with mitochondrial disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ABHD13

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 ABHD13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABHD13 Gene

Publications for ABHD13 Gene

  1. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 41
  2. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. (PMID: 18951430) Anney RJ … Gill M (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 41
  3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

ExternalLinks

View latest publications for ABHD13 gene in Mastermind

Products for ABHD13 Gene

Sources for ABHD13 Gene