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ABHD14A Gene

protein-coding   GIFtS: 41
GCID: GC03P052005

Abhydrolase Domain Containing 14A

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Abhydrolase Domain Containing 14A1 2
Abhydrolase Domain-Containing Protein 14A2 3
DORZ12
Alpha/Beta Hydrolase Domain-Containing Protein 14A2
EC 3.-.-.-3

External Ids:    HGNC: 245381   Entrez Gene: 258642   Ensembl: ENSG000002484877   UniProtKB: Q9BUJ03   

Export aliases for ABHD14A gene to outside databases

Previous GC identifer: GC03P051985


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ABHD14A Gene:
ABHD14A (abhydrolase domain containing 14A) is a protein-coding gene. GO annotations related to this gene include hydrolase activity. An important paralog of this gene is ABHD14B.

UniProtKB/Swiss-Prot: ABHEA_HUMAN, Q9BUJ0
Function: Possible role in granule neuron development (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABHD14A gene promoter:
         GR   MZF-1   MAZR   NRSF form 1   HNF-4alpha2   NRSF form 2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABHD14A promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABHD14A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.1   Ensembl cytogenetic band:  3p21.2   HGNC cytogenetic band: 3p21.1

ABHD14A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABHD14A gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P052005:  view genomic region     (about GC identifiers)

Start:
52,005,442 bp from pter      End:
52,015,216 bp from pter
Size:
9,775 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ABHEA_HUMAN, Q9BUJ0 (See protein sequence)
Recommended Name: Alpha/beta hydrolase domain-containing protein 14A  
Size: 271 amino acids; 29765 Da
Caution: It is uncertain whether Met-1 or Met-30 is the initiator
Sequence caution: Sequence=AAQ88568.1; Type=Erroneous initiation;
Secondary accessions: Q6UXU8 Q9Y3T7

Explore the universe of human proteins at neXtProt for ABHD14A: NX_Q9BUJ0

Explore proteomics data for ABHD14A at MOPED


See ABHD14A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_056222.2  
ENSEMBL proteins: 
 ENSP00000418242   ENSP00000420475   ENSP00000273596   ENSP00000418824  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
ABHD: Abhydrolase domain containing

ProtoNet protein and cluster: Q9BUJ0

UniProtKB/Swiss-Prot: ABHEA_HUMAN, Q9BUJ0
Similarity: Belongs to the AB hydrolase superfamily. ABHD14 family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: ABHEA_HUMAN, Q9BUJ0
Function: Possible role in granule neuron development (By similarity)

     Enzyme Number (IUBMB): EC 3.-.-.-1

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016787hydrolase activity IEA--
     
Find genes that share ontologies with ABHD14A           About GenesLikeMe


Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for ABHD14A

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
ABHEA_HUMAN, Q9BUJ0: Cytoplasm (By similarity). Membrane; Single-pass type II membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol4
chloroplast2
extracellular2
nucleus2
peroxisome1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with ABHD14A           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ABHD14A
Interactions:

    Search GeneGlobe Interaction Network for ABHD14A

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
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Browse Tocris compounds for ABHD14A (ABHEA)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for ABHD14A gene: 
NM_015407.4  

Unigene Cluster for ABHD14A:

Abhydrolase domain containing 14A
Hs.534400  [show with all ESTs]
Unigene Representative Sequence: CD513237
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000497864 ENST00000494478 ENST00000273596(uc003dco.3) ENST00000474575(uc010hlz.2)
ENST00000491470
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Additional mRNA sequence: 

AL050015.1 AY358201.1 BC002571.2 

10 DOTS entries:

DT.86846444  DT.120854150  DT.92420002  DT.100685918  DT.95170238  DT.120854112  DT.95170239  DT.120854255 
DT.86846443  DT.91658769 

Selected AceView cDNA sequences (see all 446):

BU149626 BQ934069 BM832229 BQ053414 AW471392 BM918478 D14524 BE795159 
CN483835 CD014023 BU742163 CR622719 BM673744 CR607052 BQ918812 AY358201 
AU077016 BQ227610 CD014027 CD014024 AI432585 CD742854 CB161164 CR608049 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ABHD14A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGCTTGGACA
ABHD14A Expression
About this image

ABHD14A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ABHD14A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.534400
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for ABHD14A gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Abhd14a1 , 5 abhydrolase domain containing 14A1, 5 83.4(n)1
81.38(a)1
  9 (57.51 cM)5
686441  NM_145919.21  NP_666031.21 
 1064400515 
chicken
(Gallus gallus)
Aves ABHD14A6
abhydrolase domain containing 14A
51(a)
1 ↔ 1
12(3130959-3137490)
lizard
(Anolis carolinensis)
Reptilia ABHD14A6
abhydrolase domain containing 14A
43(a)
1 ↔ 1
2(153071761-153078158)
tropical clawed frog
(Xenopus tropicalis)
Amphibia abhd14a1 abhydrolase domain containing 14A 57.32(n)
47.66(a)
  100494859  XM_004914065.1  XP_004914122.1 
zebrafish
(Danio rerio)
Actinopterygii abhd14a1 abhydrolase domain containing 14A 61.35(n)
55.4(a)
  404598  NM_207066.1  NP_996949.1 
worm
(Caenorhabditis elegans)
Secernentea Y55F3AM.106
Protein Y55F3AM.10 (Y55F3AM.10) mRNA, complete cds...
28(a)
1 → many
IV(1027754-1030024) WBGene00021927


ENSEMBL Gene Tree for ABHD14A (if available)
TreeFam Gene Tree for ABHD14A (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ABHD14A gene
ABHD14B2  
2 SIMAP similar genes for ABHD14A using alignment to 4 protein entries:     ABHEA_HUMAN (see all proteins):
ABHD14A-ACY1    ABHD14B

Find genes that share paralogs with ABHD14A           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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2 SNPs for ABHD14A    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 3 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs4045271,2,4
----see VAR_0313912 mis40--------
rs178496261,2,4
----see VAR_0313902 mis40--------

HapMap Linkage Disequilibrium report for ABHD14A (52005442 - 52015216 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for ABHD14A:    About this table    
Variant IDTypeSubtypePubMed ID
nsv508922CNV Insertion20534489
dgv5134n71CNV Loss21882294
nsv876780CNV Loss21882294
dgv5135n71CNV Loss21882294
nsv520211CNV Gain19592680
nsv519445CNV Gain+Loss19592680

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease from the University of Copenhagen DISEASES database for ABHD14A:
Viral hepatitis

Find genes that share disorders with ABHD14A           About GenesLikeMe


Export disorders for ABHD14A gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for ABHD14A gene integrated from 10 sources:
(articles sorted by number of sources associating them with ABHD14A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
  3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  4. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
  5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
  6. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
  7. Dorz1, a novel gene expressed in differentiating cerebellar granule neurons, is down-regulated in Zic1-deficient mouse. (PubMed id 14667578)1 Hoshino J....Mikoshiba K. (Brain Res. Mol. Brain Res. 2003)
  8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  9. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 25864 HGNC: 24538 AceView: ACY1andDKFZP564O243 Ensembl:ENSG00000248487 euGenes: HUgn25864
ECgene: ABHD14A H-InvDB: ABHD14A

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for ABHD14A Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ABHD14A gene:
Search GeneIP for patents involving ABHD14A

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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