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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABHD14B Gene

protein-coding   GIFtS: 47
GCID: GC03M052003

Abhydrolase Domain Containing 14B

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Abhydrolase Domain Containing 14B1 2     Cell Cycle Gene 1-Interacting Factor B2
Abhydrolase Domain-Containing Protein 14B2 3     EC 3.-.-.-3
CIB2 3     EC 3.1.11.68
CCG1-Interacting Factor B2 3     EC 3.1.21.48
Alpha/Beta Hydrolase Domain-Containing Protein 14B2     

External Ids:    HGNC: 282351   Entrez Gene: 848362   Ensembl: ENSG000001147797   UniProtKB: Q96IU43   

Export aliases for ABHD14B gene to outside databases

Previous GC identifer: GC03M051978


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ABHD14B Gene: 
ABHD14B (abhydrolase domain containing 14B) is a protein-coding gene. Diseases associated with ABHD14B include prostatitis. GO annotations related to this gene include hydrolase activity. An important paralog of this gene is ABHD14A.

UniProtKB/Swiss-Prot: ABHEB_HUMAN, Q96IU4
Function: Has hydrolase activity towards p-nitrophenyl butyrate (in vitro). May activate transcription




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABHD14B gene promoter:
         PPAR-alpha   MAZR   MIF-1   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABHD14B promoter sequence
   Search SABiosciences Chromatin IP Primers for ABHD14B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABHD14B


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

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

ABHD14B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABHD14B gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M052003:  view genomic region     (about GC identifiers)

Start:
52,002,526 bp from pter      End:
52,017,425 bp from pter
Size:
14,900 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ABHEB_HUMAN, Q96IU4 (See protein sequence)
Recommended Name: Alpha/beta hydrolase domain-containing protein 14B  
Size: 210 amino acids; 22346 Da
Subunit: May interact with TAF1
Subcellular location: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic
Sequence caution: Sequence=AAH50650.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for ABHD14B:
1IMJ (3D)    
Secondary accessions: Q86VK8 Q8N8W5
Alternative splicing: 2 isoforms:  Q96IU4-1   Q96IU4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ABHD14B: NX_Q96IU4

Explore proteomics data for ABHD14B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96IU4

  • 2 DME Specific Peptides for ABHD14B (Q96IU4)
     LHRLAQA  GLLDFLQ 

    ABHD14B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABHD14B Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001139786.1  NP_001241682.1  NP_116139.1  

    ENSEMBL proteins: 
     ENSP00000420065   ENSP00000378455   ENSP00000354841   ENSP00000417564   ENSP00000433388  
     ENSP00000318248  

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    Cloud-Clone Corp. Proteins for ABHD14B 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--

    ABHD14B for ontologies           About GeneDecksing



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

    1 InterPro protein domain:
     IPR026764 ABHD14B

    Graphical View of Domain Structure for InterPro Entry Q96IU4

    ProtoNet protein and cluster: Q96IU4

    UniProtKB/Swiss-Prot: ABHEB_HUMAN, Q96IU4
    Similarity: Belongs to the AB hydrolase superfamily. ABHD14 family


    ABHD14B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABHEB_HUMAN, Q96IU4
    Function: Has hydrolase activity towards p-nitrophenyl butyrate (in vitro). May activate transcription

         Enzyme Numbers (IUBMB): EC 3.1.11.62 EC 3.-.-.-1 EC 3.1.21.42

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016787hydrolase activity IEA--
         
    ABHD14B for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidABHD14B 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABHD14B

    5/12 Interacting proteins for ABHD14B (Q96IU43) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ECHS1P300843I2D: score=4 
    ATG10Q9H0Y03I2D: score=1 
    CLN3Q132863I2D: score=1 
    DCAKDQ8WVC63I2D: score=1 
    DDA1Q9BW613I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABHD14B (ABHEB)

    Search CenterWatch for drugs/clinical trials and news about ABHD14B / ABHEB

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ABHD14B gene (3 alternative transcripts): 
    NM_001146314.1  NM_001254753.1  NM_032750.2  

    Unigene Cluster for ABHD14B:

    Abhydrolase domain containing 14B
    Hs.420796  [show with all ESTs]
    Unigene Representative Sequence: AK092152
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000483233(uc003dcn.3) ENST00000487005(uc021wza.1) ENST00000395008
    ENST00000361143 ENST00000461108(uc011bdz.1) ENST00000525795 ENST00000473912
    ENST00000315877(uc003dcm.3 uc011bdy.2)
    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate ABHD14B:
    hsa-miR-145* hsa-miR-588 hsa-miR-2276 hsa-miR-205* hsa-miR-765 hsa-miR-2278
    SwitchGear 3'UTR luciferase reporter plasmidABHD14B 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK075112.1 AK092152.1 AK096073.1 AK296599.1 AK298022.1 BC007234.1 BC050650.1 BC056411.1 
    BC071931.1 

    24/25 DOTS entries (see all 25):

    DT.100661294  DT.417058  DT.100885790  DT.120854074  DT.100885783  DT.95271097  DT.97862503  DT.100885787 
    DT.100885781  DT.100031651  DT.100832089  DT.100650642  DT.120854259  DT.92045901  DT.97856310  DT.92440367 
    DT.95271093  DT.100031650  DT.100885771  DT.100885775  DT.86856152  DT.97862501  DT.100885792  DT.450006 

    24/2592 AceView cDNA sequences (see all 2592):

    AW169131 W19358 BU190235 BM791668 R84657 BQ062228 BM454856 BQ029204 
    CD674643 F28909 CD671208 BM770962 BE890166 BU181087 BG749053 BX341702 
    BM843113 CA310908 BM767280 F35318 AW327618 CB159508 AW160572 AI648493 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ABHD14B    About this scheme

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


    ECgene alternative splicing isoforms for ABHD14B

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABHD14B expression in normal human tissues (normalized intensities)      ABHD14B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ABHD14B Expression
    About this image


    ABHD14B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Uterus (Reproductive System)
             CERVIX   
     
     Neural Tube (Nervous System)
             Prosencephalon

    See ABHD14B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABHD14B

    SOURCE GeneReport for Unigene cluster: Hs.420796

    UniProtKB/Swiss-Prot: ABHEB_HUMAN, Q96IU4
    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

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ABHD14B gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abhd14b1 , 5 abhydrolase domain containing 14b1, 5 87.6(n)1
    88.41(a)1
      9 (57.53 cM)5
    764911  NM_029631.31  NP_083907.31 
     1064486405 
    lizard
    (Anolis carolinensis)
    Reptilia ABHD14B6
    Uncharacterized protein
    64(a)
    1 ↔ 1
    2(153053981-153059233)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686002 hypothetical protein MGC68600 72.1(n)    BC056661.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc640312 hypothetical protein MGC64031 74.95(n)   393338  BC053212.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y55F3AM.106
    Protein Y55F3AM.10
    28(a)
    1 → many
    IV(1027754-1030024)


    ENSEMBL Gene Tree for ABHD14B (if available)
    TreeFam Gene Tree for ABHD14B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABHD14B gene
    ABHD14A2  
    1 SIMAP similar gene for ABHD14B using alignment to 3 protein entries:     ABHEB_HUMAN (see all proteins):
    ABHD14A

    ABHD14B for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/84 SNPs in ABHD14B are shown (see all 84)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2010100641,2
    C--52003518(+) GCCCCA/GCCCCC 6 A V mis10--------
    rs1497465911,2
    C,F--52003540(+) CACCCG/AGTGGT 6 /R /W mis12Minor allele frequency- A:0.00NA EU 5645
    rs1484067331,2
    C,F--52003560(+) GCTTCA/GGGTGC 6 P L mis11Minor allele frequency- G:0.00NA 4552
    rs1997916501,2
    --52003638(+) GATAGG/TGGGGT 3 -- int10--------
    rs46877931,2
    C,H--52003888(+) CCCAGA/GTGAGG 3 -- int12Minor allele frequency- G:0.00NA 4
    rs3675932301,2
    C--52004130(+) ACAGCA/C/TGCCAG 9 A syn10--------
    rs1995639431,2
    C--52004171(+) GGCAGA/GGGCTG 6 P S mis10--------
    rs1392937591,2
    C--52004274(+) TCTCTA/CCAGGA 3 -- int10--------
    rs3794621,2
    C,F,H--52004317(+) TTCCTG/ATAACA 3 -- int127Minor allele frequency- A:0.13NA EA MN NS WA CSA 2481
    rs1828838321,2
    --52004344(+) TTATTC/TCTACA 3 -- int10--------

    HapMap Linkage Disequilibrium report for ABHD14B (52002526 - 52017425 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ABHD14B:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508922CNV Insertion20534489
    dgv5134n71CNV Loss21882294
    nsv876780CNV Loss21882294
    dgv5135n71CNV Loss21882294
    nsv520211CNV Gain19592680
    nsv519445CNV Gain+Loss19592680

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for ABHD14B:    About MalaCards
    prostatitis    


    ABHD14B for disorders           About GeneDecksing


    Export disorders for ABHD14B 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)
    About This Section

    PubMed articles for ABHD14B gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with ABHD14B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification, crystallization and preliminary X-ray crystallographic analysis of human CCG1-interacting factor B. (PubMed id 11053859)1, 2, 9 Padmanabhan B.... Horikoshi M. (2000)
    2. 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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1 Otsuki T....Isogai T. (2005)
    9. The crystal structure of CCG1/TAF(II)250-interacting factor B (CIB). (PubMed id 14672934)2 Padmanabhan B.... Horikoshi M. (2004)
    10. 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. (2002)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84836 HGNC: 28235 AceView: RPL29andMGC15429 Ensembl:ENSG00000114779 euGenes: HUgn84836
    ECgene: ABHD14B H-InvDB: ABHD14B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ABHD14B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ABHD14B gene:
    Search GeneIP for patents involving ABHD14B

    GeneCards and IP:
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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