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

Gene ID: 83451, updated on 29-Mar-2023

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_2023_03 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73736094..73738802, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74936993..74939701, complement)
105.20220307 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 ABHD11 antisense RNA 1 (tail to tail) Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:73152931-73153588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:73153589-73154245 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:73156848-73158047

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. ABHD11, a new diacylglycerol lipase involved in weight gain regulation. Escoubet J, et al. PLoS One, 2020. PMID 32579589, Free PMC Article
  3. 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
  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. 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

See all (31) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. ABHD11, a new diacylglycerol lipase involved in weight gain regulation.
    Title: ABHD11, a new diacylglycerol lipase involved in weight gain regulation.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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)

Genotypes

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 hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in cellular lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
protein ABHD11
Names
Williams Beuren syndrome chromosome region 21
abhydrolase domain-containing protein 11
alpha/beta hydrolase domain-containing protein 11

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  protein 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  protein 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  protein 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
    Related
    ENSP00000222800.4, ENST00000222800.8
    Conserved Domains (1) summary
    PRK10673
    Location:44 → 305
    PRK10673; esterase

  4. NM_148913.4 → NP_683711.2  protein 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_2023_03

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  protein ABHD11 isoform X1

    UniProtKB/TrEMBL
    D3DXF2

  2. XM_024446949.2 → XP_024302717.2  protein ABHD11 isoform X1

    UniProtKB/TrEMBL
    D3DXF2

  3. XM_024446948.2 → XP_024302716.1  protein ABHD11 isoform X2

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

  4. XM_047420886.1 → XP_047276842.1  protein ABHD11 isoform X4

  5. XM_047420885.1 → XP_047276841.1  protein 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  protein ABHD11 isoform X1

  2. XM_054359115.1 → XP_054215090.1  protein ABHD11 isoform X1

  3. XM_054359116.1 → XP_054215091.1  protein ABHD11 isoform X2

  4. XM_054359119.1 → XP_054215094.1  protein ABHD11 isoform X4

  5. XM_054359118.1 → XP_054215093.1  protein 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
Q8NFV4.1 GenPept UniProtKB/Swiss-Prot:Q8NFV4

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