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

ABHD13 Gene

protein-coding   GIFtS: 45
GCID: GC13P108870

abhydrolase domain containing 13

(Previous name: chromosome 13 open reading frame 6 )
(Previous symbol: C13orf6)
 Explore 4 diseases affiliated with
ABHD13 via our new
 Human Malady Compendium 
Biological research products
for ABHD13
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Abhydrolase Domain Containing 131 2     FLJ149061
C13orf61 2 3     Chromosome 13 Open Reading Frame 61
BEM46L11 2     RP11-153I24.22
BA153I24.21     EC 3.-.-.-3
Abhydrolase Domain-Containing Protein 132 3     

External Ids:    HGNC: 202931   Entrez Gene: 849452   Ensembl: ENSG000001398267   UniProtKB: Q7L2113   

Export aliases for ABHD13 gene to outside databases

Previous GC identifers: GC13P107670 GC13P089461


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  NT_009952.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABHD13 gene promoter:
         Nkx3-1   Nkx3-1 v4   RP58   p300   STAT5A   Nkx3-1 v1   POU6F1 (c2)   Nkx3-1 v2   Nkx3-1 v3   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABHD13 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABHD13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABHD13


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

Entrez Gene cytogenetic band: 13q33.3   Ensembl cytogenetic band:  13q33.3   HGNC cytogenetic band: 13q33.2

ABHD13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABHD13 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P108870:  view genomic region     (about GC identifiers)

Start:
108,870,727 bp from pter      End:
108,886,603 bp from pter
Size:
15,877 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: ABHDD_HUMAN, Q7L211 (See protein sequence)
Recommended Name: Alpha/beta hydrolase domain-containing protein 13  
Size: 337 amino acids; 38548 Da
Subcellular location: Membrane; Single-pass type II membrane protein (Potential)
Sequence caution: Sequence=AAH70226.1; Type=Erroneous initiation; Sequence=AK075195; Type=Erroneous termination;
Positions=167; Note=Translated as Leu; Sequence=BAB55387.1; Type=Erroneous initiation;
Secondary accessions: B3KWE7 Q8NBW1 Q96JX9

Explore the universe of human proteins at neXtProt for ABHD13: NX_Q7L211

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7L211

  • ABHD13 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_116248.2  
    ENSEMBL proteins: 
     ENSP00000365063  

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    Uscn Proteins for ABHD13

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    ABHD13 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q7L211

    1 Blocks protein family: IPB003089 Alpha/beta hydrolase fold signature

    UniProtKB/Swiss-Prot: ABHDD_HUMAN, Q7L211
    Similarity: Belongs to the serine esterase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

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

    miRNA
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    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--


    ABHD13 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ABHD13:
     Low eccentricity cells 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABHD13

    5/7 Interacting proteins for ABHD13 (Q7L2113) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCT2P783713I2D: score=1 
    HSP90AA1P079003I2D: score=1 
    POLGP540983I2D: score=1 
    PPP1CCP368733I2D: score=1 
    SSRP1Q089453I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 ABHD13
    Search CenterWatch for drugs/clinical trials and news about ABHD13 / ABHDD 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    About This Section

    REFSEQ mRNAs for ABHD13 gene: 
    NM_032859.2  

    Unigene Cluster for ABHD13:

    Abhydrolase domain containing 13
    Hs.183528  [show with all ESTs]
    Unigene Representative Sequence: NM_032859
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000375898(uc001vqq.3)

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    hsa-miR-607 hsa-miR-25 hsa-miR-219-5p hsa-miR-578 hsa-miR-548l hsa-miR-4275 hsa-miR-508-3p hsa-miR-223
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    Inhib. RNA
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABHD13
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABHD13

    Additional cDNA sequence: 

    AK027812.1 BC018608.1 BC022566.1 BC070226.1 BX647428.1 

    3 DOTS entries:

    DT.407487  DT.97823458  DT.92420168 

    24/86 AceView cDNA sequences (see all 86):

    AA403049 AK027812 CR597257 AA489076 BE018217 BU677103 BE047235 BU675394 
    NM_032859 AI281417 BM764222 AA548082 BC018608 AK124864 AW451214 BC070226 
    BC022566 CR609193 BE301702 AI282621 CB852981 AW085198 AA405672 AI911560 

    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™, 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

    ABHD13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCAAGCAAAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ABHD13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABHD13

    SOURCE GeneReport for Unigene cluster: Hs.183528
        SABiosciences Custom PCR Arrays for ABHD13
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD13

    (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 last universal common ancestor (LUCA).

    Orthologs for ABHD13 gene from 9/33 species (see all 33)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ABHD131 abhydrolase domain containing 13 86.25(n)
    94.66(a)
      418763  NM_001008681.1  NP_001008681.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABHD136
    --
    93(a)
    1 ↔ 1
    1(137073651-137074664)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.125772 Xenopus laevis transcribed sequence with moderate similarity more 78.33(n)    BM262031.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abhd131 abhydrolase domain containing 13 68.25(n)
    79.23(a)
      561333  NM_001037685.1  NP_001032774.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Bem461 Bem46 47.32(n)
    44.26(a)
      44441  NM_058024.3  NP_477372.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YNL320W)4
    YNL320W1
    Putative protein of unknown function; the authentic, more4
    hypothetical protein1
    47.49(n)1
    36.84(a)1
      14(37700-38554)4
    8553961, 4  NP_014079.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons WAV21 protein wavy growth 2 / esterase-lipase domain-containing more 48.07(n)
    37.54(a)
      832174  NM_122059.3  NP_568395.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g06083001 hypothetical protein 48.38(n)
    38.81(a)
      4343867  NM_001066776.1  NP_001060241.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria yfhR6
    S9 peptidase family protein, function unknown
    25(a)
    1 ↔ 1
    Chromosome(2662412-2663266)


    ENSEMBL Gene Tree for ABHD13 (if available)
    TreeFam Gene Tree for ABHD13 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABHD13 gene
    FAM108C12  FAM108A12  FAM108B12  

    ABHD13 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/254 NCBI SNPs in ABHD13 are shown (see all 254    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1851345961,2
    --108872787(+) AATCTA/GTTTCT 1 -- int10--------
    rs792365231,2
    F--108872809(+) TAATGG/TATTAC 1 -- int11Minor allele frequency- T:0.50NA 4
    rs764359901,2
    F--108872843(+) CCTTGG/TTTAGT 1 -- int11Minor allele frequency- T:0.50NA 4
    rs1899878421,2
    --108872968(+) TATTAA/TATTTT 1 -- int10--------
    rs1812021671,2
    --108872995(+) TGGTGC/TGAACT 1 -- int10--------
    rs1395432911,2
    --108873043(+) ATGTAA/GTATTT 1 -- int10--------
    rs1497210021,2
    --108873066(+) CTACAC/TGCATT 1 -- int10--------
    rs679527781,2
    C,F,--108873103(+) CTTCTA/CGTAAG 1 -- int17Minor allele frequency- C:0.06NA WA CSA EA 366
    rs674816971,2
    C,F,--108873114(+) GCTTCT/CAGTTG 1 -- int17Minor allele frequency- C:0.06NA WA CSA EA 366
    rs1838765201,2
    --108873306(+) AAACAG/TTTCAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for ABHD13 (108870727 - 108886603 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for ABHD13
         5 CNVs: 87019 87020 87018 76480 76481

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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.)
    About This Section

    ABHD13 for disorders           About GeneDecksing

    4 diseases for ABHD13:    About MalaCards
    conduct disorder    adhd    tuberculosis    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: ABHD13 (1 document)

    Export disorders for ABHD13 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 ABHD13 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ABHD13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 2 Otsuki T....Isogai T. (2005)
    2. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Association between genetic variants in VEGF, ERCC3 a nd occupational benzene haematotoxicity. (PubMed id 19773279)1 Hosgood H.D....Lan Q. (2009)
    6. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. (PubMed id 18951430)1 Anney R.J....Gill M. (2008)
    7. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 84945 HGNC: 20293 AceView: C13orf6 Ensembl:ENSG00000139826 euGenes: HUgn84945
    ECgene: ABHD13 H-InvDB: ABHD13

    (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 ABHD13 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 ABHD13 gene:
    Search GeneIP for patents involving ABHD13

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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