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    ABHD11 abhydrolase domain containing 11 [ Homo sapiens (human) ]

    Gene ID: 83451, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ABHD11provided by HGNC
    Official Full Name
    abhydrolase domain containing 11provided by HGNC
    Primary source
    HGNC:HGNC:16407
    See related
    Ensembl:ENSG00000106077 AllianceGenome:HGNC:16407
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PP1226; WBSCR21
    Summary
    This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in colon (RPKM 10.9), thyroid (RPKM 9.6) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See ABHD11 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73736094..73738802, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74936993..74939701, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73150424..73153132, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26129 Neighboring gene RNA, 7SL, cytoplasmic 265, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:73152931-73153588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:73153589-73154245 Neighboring gene BICD family like 3, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:73156848-73158047 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73175993-73176570 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73176571-73177148 Neighboring gene claudin 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:73213712-73214352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18267 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:73234209-73234787 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:73236582-73237781 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73241685-73242332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73242333-73242980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73245012-73245714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73245715-73246417 Neighboring gene claudin 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. ABHD11 maintains 2-oxoglutarate metabolism by preserving functional lipoylation of the 2-oxoglutarate dehydrogenase complex. Bailey PSJ, et al. Nat Commun, 2020 Aug 13. PMID 32792488, Free PMC Article
    2. Activity-based proteomics: identification of ABHD11 and ESD activities as potential biomarkers for human lung adenocarcinoma. Wiedl T, et al. J Proteomics, 2011 Sep 6. PMID 21596165
    3. ABHD11, a new diacylglycerol lipase involved in weight gain regulation. Escoubet J, et al. PLoS One, 2020. PMID 32579589, Free PMC Article
    4. Using gastric juice lncRNA-ABHD11-AS1 as a novel type of biomarker in the screening of gastric cancer. Yang Y, et al. Tumour Biol, 2016 Jan. PMID 26280398
    5. Human alpha beta hydrolase domain containing protein 11 and its yeast homolog are lipid hydrolases. Arya M, et al. Biochem Biophys Res Commun, 2017 Jun 10. PMID 28465236

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncRNA ABHD11-AS1 activates EGFR signaling to promote cervical cancer progression by preventing FUS-mediated degradation of ABHD11 mRNA.
      Title: LncRNA ABHD11-AS1 activates EGFR signaling to promote cervical cancer progression by preventing FUS-mediated degradation of ABHD11 mRNA.
    2. Long non-coding RNA ABHD11-AS1 promotes colorectal cancer progression and invasion through targeting the integrin subunit alpha 5/focal adhesion kinase/phosphoinositide 3 kinase/Akt signaling pathway.
      Title: Long non-coding RNA ABHD11-AS1 promotes colorectal cancer progression and invasion through targeting the integrin subunit alpha 5/focal adhesion kinase/phosphoinositide 3 kinase/Akt signaling pathway.
    3. ABHD11, a new diacylglycerol lipase involved in weight gain regulation.
      Title: ABHD11, a new diacylglycerol lipase involved in weight gain regulation.
    4. ABHD11 maintains 2-oxoglutarate metabolism by preserving functional lipoylation of the 2-oxoglutarate dehydrogenase complex.
      Title: ABHD11 maintains 2-oxoglutarate metabolism by preserving functional lipoylation of the 2-oxoglutarate dehydrogenase complex.
    5. that ABHD11-AS1 promotes CRC progression through the miR-1254-WNT11 pathway
      Title: Long noncoding RNA ABHD11-AS1 promote cells proliferation and invasion of colorectal cancer via regulating the miR-1254-WNT11 pathway.
    6. The results demonstrate that human ABHD11 and its yeast homolog YGR031W have a pivotal role in the lipid metabolism.
      Title: Human alpha beta hydrolase domain containing protein 11 and its yeast homolog are lipid hydrolases.
    7. ABHD11-AS1 is expressed in gastric cancer tissues and may have a role as a biological marker
      Title: Using gastric juice lncRNA-ABHD11-AS1 as a novel type of biomarker in the screening of gastric cancer.
    8. Abhydrolase domain-containing protein 11 and Esterase D predict the development of distant metastases and the presence of aggressive lung adenocarcinomas.
      Title: Activity-based proteomics: identification of ABHD11 and ESD activities as potential biomarkers for human lung adenocarcinoma.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carboxylic ester hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lipase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of oxoglutarate dehydrogenase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sn-1-specific diacylglycerol lipase ABHD11
    Names
    Williams Beuren syndrome chromosome region 21
    abhydrolase domain-containing protein 11
    alpha/beta hydrolase domain-containing protein 11
    protein ABHD11
    NP_001138836.2
    NP_001287987.2
    NP_683710.2
    NP_683711.2
    XP_024302716.1
    XP_024302717.2
    XP_047276840.1
    XP_047276841.1
    XP_047276842.1
    XP_054215090.1
    XP_054215091.1
    XP_054215092.1
    XP_054215093.1
    XP_054215094.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001145364.3 → NP_001138836.2  sn-1-specific diacylglycerol lipase ABHD11 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks a coding exon, compared to variant 1, resulting in a shorter protein (isoform 8).
      Source sequence(s)
      AC073846
      Consensus CDS
      CCDS47607.2
      Related
      ENSP00000378579.5, ENST00000395147.9
      Conserved Domains (1) summary
      PRK10673
      Location:44 → 248
      PRK10673; esterase

    2. NM_001301058.2 → NP_001287987.2  sn-1-specific diacylglycerol lipase ABHD11 isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks two exons in the central coding region, which results in a frameshift, compared to variant 1. The encoded isoform (9) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC073846
      Consensus CDS
      CCDS75615.2
      UniProtKB/TrEMBL
      C9J7Q4
      Related
      ENSP00000397666.2, ENST00000458339.6
      Conserved Domains (1) summary
      PRK10673
      Location:44 → 141
      PRK10673; esterase

    3. NM_148912.4 → NP_683710.2  sn-1-specific diacylglycerol lipase ABHD11 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as A) encodes isoform 1.
      Source sequence(s)
      AC073846
      Consensus CDS
      CCDS5558.2
      UniProtKB/Swiss-Prot
      H7BYM8, Q6PJU0, Q8N722, Q8N723, Q8NFV2, Q8NFV3, Q8NFV4, Q9HBS8
      Related
      ENSP00000222800.4, ENST00000222800.8
      Conserved Domains (1) summary
      PRK10673
      Location:44 → 305
      PRK10673; esterase

    4. NM_148913.4 → NP_683711.2  sn-1-specific diacylglycerol lipase ABHD11 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as D) lacks an alternate in-frame segment, compared to variant 1, resulting in a shorter isoform (2) than isoform 1.
      Source sequence(s)
      AC073846
      Consensus CDS
      CCDS47608.2
      Related
      ENSP00000416970.3, ENST00000437775.7
      Conserved Domains (1) summary
      PRK10673
      Location:53 → 298
      PRK10673; esterase

    RNA

    1. NR_135627.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC073846

    2. NR_169872.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC073846
      Related
      ENST00000357419.9

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      73736094..73738802 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420884.1 → XP_047276840.1  sn-1-specific diacylglycerol lipase ABHD11 isoform X1

    2. XM_024446949.2 → XP_024302717.2  sn-1-specific diacylglycerol lipase ABHD11 isoform X1

    3. XM_024446948.2 → XP_024302716.1  sn-1-specific diacylglycerol lipase ABHD11 isoform X2

      Conserved Domains (1) summary
      cl26326
      Location:130 → 347
      PRK10673; acyl-CoA esterase; Provisional

    4. XM_047420886.1 → XP_047276842.1  sn-1-specific diacylglycerol lipase ABHD11 isoform X4

    5. XM_047420885.1 → XP_047276841.1  sn-1-specific diacylglycerol lipase ABHD11 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      74936993..74939701 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359117.1 → XP_054215092.1  sn-1-specific diacylglycerol lipase ABHD11 isoform X1

    2. XM_054359115.1 → XP_054215090.1  sn-1-specific diacylglycerol lipase ABHD11 isoform X1

    3. XM_054359116.1 → XP_054215091.1  sn-1-specific diacylglycerol lipase ABHD11 isoform X2

    4. XM_054359119.1 → XP_054215094.1  sn-1-specific diacylglycerol lipase ABHD11 isoform X4

    5. XM_054359118.1 → XP_054215093.1  sn-1-specific diacylglycerol lipase ABHD11 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001145363.1: Suppressed sequence

      Description
      NM_001145363.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_001321383.1: Suppressed sequence

      Description
      NM_001321383.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.

    3. NM_148914.2: Suppressed sequence

      Description
      NM_148914.2: This RefSeq was permanently suppressed because the transcript represents use of non-consensus splice sites and there is insufficient supporting data.

    4. NM_148916.3: Suppressed sequence

      Description
      NM_148916.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    5. NR_026912.2: Suppressed sequence

      Description
      NR_026912.2: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFV4.2 GenPept UniProtKB/Swiss-Prot:Q8NFV4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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