Aliases for ABHD14B Gene

Aliases for ABHD14B Gene

  • Abhydrolase Domain Containing 14B 2 3 5
  • CIB 2 3 4
  • Alpha/Beta Hydrolase Domain-Containing Protein 14B 3 4
  • Abhydrolase Domain-Containing Protein 14B 3 4
  • CCG1-Interacting Factor B 3 4
  • Protein ABHD14B 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Cell Cycle Gene 1-Interacting Factor B 3
  • Epididymis Secretory Protein Li 299 3
  • EC 3.1.21.4 51
  • EC 3.1.11.6 51
  • EC 3.-.-.- 4
  • HEL-S-299 3
  • MGC15429 2
  • ABHD14B 5

External Ids for ABHD14B Gene

Previous GeneCards Identifiers for ABHD14B Gene

  • GC03M051978
  • GC03M052003

Summaries for ABHD14B Gene

GeneCards Summary for ABHD14B Gene

ABHD14B (Abhydrolase Domain Containing 14B) is a Protein Coding gene. Diseases associated with ABHD14B include Hypotonia-Cystinuria Syndrome. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is ABHD14A.

UniProtKB/Swiss-Prot Summary for ABHD14B Gene

  • Has hydrolase activity towards p-nitrophenyl butyrate (in vitro). May activate transcription.

Additional gene information for ABHD14B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABHD14B Gene

Genomics for ABHD14B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABHD14B 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 ABHD14B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABHD14B

Top Transcription factor binding sites by QIAGEN in the ABHD14B gene promoter:
  • HNF-4alpha1
  • HNF-4alpha2
  • MAZR
  • MIF-1
  • PPAR-alpha

Genomic Locations for ABHD14B Gene

Genomic Locations for ABHD14B Gene
chr3:51,968,510-51,983,409
(GRCh38/hg38)
Size:
14,900 bases
Orientation:
Minus strand
chr3:52,002,526-52,017,425
(GRCh37/hg19)
Size:
14,900 bases
Orientation:
Minus strand

Genomic View for ABHD14B Gene

Genes around ABHD14B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD14B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD14B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD14B Gene

Proteins for ABHD14B Gene

  • Protein details for ABHD14B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96IU4-ABHEB_HUMAN
    Recommended name:
    Protein ABHD14B
    Protein Accession:
    Q96IU4
    Secondary Accessions:
    • Q86VK8
    • Q8N8W5

    Protein attributes for ABHD14B Gene

    Size:
    210 amino acids
    Molecular mass:
    22346 Da
    Quaternary structure:
    • May interact with TAF1.
    SequenceCaution:
    • Sequence=AAH50650.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ABHD14B Gene

    Alternative splice isoforms for ABHD14B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABHD14B Gene

Selected DME Specific Peptides for ABHD14B Gene

Q96IU4:
  • GLLDFLQ
  • LHRLAQA

Post-translational modifications for ABHD14B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ABHD14B Gene

Antibody Products

  • Abcam antibodies for ABHD14B
  • Biorbyt antibodies for ABHD14B
  • Santa Cruz Biotechnology (SCBT) Antibodies for ABHD14B

Domains & Families for ABHD14B Gene

Gene Families for ABHD14B Gene

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

Protein Domains for ABHD14B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABHD14B Gene

GenScript: Design optimal peptide antigens:
  • CCG1-interacting factor B (ABHEB_HUMAN)
  • cDNA FLJ52710, highly similar to Abhydrolase domain-containing protein 14B (B4DNR3_HUMAN)
  • cDNA FLJ52723, highly similar to Abhydrolase domain-containing protein 14B (B4DQI4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96IU4

UniProtKB/Swiss-Prot:

ABHEB_HUMAN :
  • Belongs to the AB hydrolase superfamily. ABHD14 family.
Family:
  • Belongs to the AB hydrolase superfamily. ABHD14 family.
genes like me logo Genes that share domains with ABHD14B: view

Function for ABHD14B Gene

Molecular function for ABHD14B Gene

UniProtKB/Swiss-Prot Function:
Has hydrolase activity towards p-nitrophenyl butyrate (in vitro). May activate transcription.

Enzyme Numbers (IUBMB) for ABHD14B Gene

Phenotypes From GWAS Catalog for ABHD14B Gene

Gene Ontology (GO) - Molecular Function for ABHD14B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14672934
GO:0016787 hydrolase activity TAS --
genes like me logo Genes that share ontologies with ABHD14B: view
genes like me logo Genes that share phenotypes with ABHD14B: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ABHD14B

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD14B

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABHD14B Gene

Localization for ABHD14B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD14B Gene

Cytoplasm. Nucleus. Note=Predominantly cytoplasmic.

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 ABHD14B gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
plasma membrane 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABHD14B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 14672934
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with ABHD14B: view

Pathways & Interactions for ABHD14B Gene

genes like me logo Genes that share pathways with ABHD14B: view

Pathways by source for ABHD14B Gene

Interacting Proteins for ABHD14B Gene

Gene Ontology (GO) - Biological Process for ABHD14B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 14672934
GO:0050427 3'-phosphoadenosine 5'-phosphosulfate metabolic process TAS --
genes like me logo Genes that share ontologies with ABHD14B: view

No data available for SIGNOR curated interactions for ABHD14B Gene

Drugs & Compounds for ABHD14B Gene

No Compound Related Data Available

Transcripts for ABHD14B Gene

mRNA/cDNA for ABHD14B Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
8 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 ABHD14B

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD14B Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b
SP1: -
SP2: - -
SP3: -
SP4: - - -
SP5: -

Relevant External Links for ABHD14B Gene

GeneLoc Exon Structure for
ABHD14B

Expression for ABHD14B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABHD14B Gene

Protein differential expression in normal tissues from HIPED for ABHD14B Gene

This gene is overexpressed in Liver, secretome (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABHD14B Gene



Protein tissue co-expression partners for ABHD14B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABHD14B

SOURCE GeneReport for Unigene cluster for ABHD14B Gene:

Hs.420796

mRNA Expression by UniProt/SwissProt for ABHD14B Gene:

Q96IU4-ABHEB_HUMAN
Tissue specificity: Ubiquitous. Detected in spleen, thymus, prostate, testis, ovary, small intestine, colon, peripheral blood leukocyte, heart, placenta, lung, liver, skeletal muscle, pancreas and kidney.

Evidence on tissue expression from TISSUES for ABHD14B Gene

  • Liver(4.5)
  • Lung(4.5)
  • Kidney(4.5)
  • Skin(4.4)
  • Nervous system(3.4)
  • Intestine(3)
  • Blood(2.5)
  • Stomach(2)
genes like me logo Genes that share expression patterns with ABHD14B: view

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 ABHD14B Gene

Orthologs for ABHD14B Gene

This gene was present in the common ancestor of animals.

Orthologs for ABHD14B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ABHD14B 30 31
  • 99.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ABHD14B 30 31
  • 91.47 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ABHD14B 30 31
  • 89.21 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Abhd14b 30 17 31
  • 87.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Abhd14b 30
  • 86.15 (n)
Oppossum
(Monodelphis domestica)
Mammalia ABHD14B 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ABHD14B 31
  • 66 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ABHD14B 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia abhd14b 30
  • 62.98 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68600 30
Zebrafish
(Danio rerio)
Actinopterygii abhd14b 30 31
  • 65.06 (n)
OneToOne
zgc64031 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9461 30
Worm
(Caenorhabditis elegans)
Secernentea Y55F3AM.10 30 31
  • 46.83 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
ManyToMany
CSA.1288 31
  • 29 (a)
ManyToMany
Species where no ortholog for ABHD14B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for ABHD14B Gene

ENSEMBL:
Gene Tree for ABHD14B (if available)
TreeFam:
Gene Tree for ABHD14B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD14B: view image

Paralogs for ABHD14B Gene

Paralogs for ABHD14B Gene

(1) SIMAP similar genes for ABHD14B Gene using alignment to 3 proteins:

  • ABHEB_HUMAN
  • B4DQI4_HUMAN
  • F8W9U3_HUMAN
genes like me logo Genes that share paralogs with ABHD14B: view

Variants for ABHD14B Gene

Additional dbSNP identifiers (rs#s) for ABHD14B Gene

Structural Variations from Database of Genomic Variants (DGV) for ABHD14B Gene

Variant ID Type Subtype PubMed ID
nsv1003453 CNV gain 25217958
nsv508922 CNV insertion 20534489
nsv519445 CNV gain+loss 19592680
nsv520211 CNV gain 19592680
nsv954857 CNV deletion 24416366

Variation tolerance for ABHD14B Gene

Residual Variation Intolerance Score: 76.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.59; 44.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABHD14B Gene

Human Gene Mutation Database (HGMD)
ABHD14B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD14B

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 ABHD14B Gene

Disorders for ABHD14B Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABHD14B Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypotonia-cystinuria syndrome
  • cystinuria with mitochondrial disease
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ABHD14B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABHD14B Gene

Publications for ABHD14B Gene

  1. Purification, crystallization and preliminary X-ray crystallographic analysis of human CCG1-interacting factor B. (PMID: 11053859) Padmanabhan B … Horikoshi M (Acta crystallographica. Section D, Biological crystallography 2000) 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. The crystal structure of CCG1/TAF(II)250-interacting factor B (CIB). (PMID: 14672934) Padmanabhan B … Horikoshi M (The Journal of biological chemistry 2004) 3 4
  5. Proteomic profiling of VCP substrates links VCP to K6-linked ubiquitylation and c-Myc function. (PMID: 29467282) Heidelberger JB … Beli P (EMBO reports 2018) 3

Products for ABHD14B Gene

  • Biorbyt antibodies for ABHD14B

Sources for ABHD14B Gene