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    ABHD1 abhydrolase domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 84696, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ABHD1provided by HGNC
    Official Full Name
    abhydrolase domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:17553
    See related
    Ensembl:ENSG00000143994 MIM:612195; AllianceGenome:HGNC:17553
    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
    LABH1
    Summary
    This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in testis (RPKM 24.6) and fat (RPKM 1.9) See more
    Orthologs
    all
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    Genomic context

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    See ABHD1 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27123815..27130812)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27165161..27172457)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27346683..27353680)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27315477-27316062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27316063-27316648 Neighboring gene ketohexokinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27321908-27322751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27324357-27324857 Neighboring gene uncharacterized LOC124907744 Neighboring gene cell growth regulator with EF-hand domain 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27340928-27341428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27341429-27341929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11286 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:27357261-27357917 Neighboring gene prolactin regulatory element binding Neighboring gene proline rich 30 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15492 Neighboring gene transcription factor 23

    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. Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children. Lan C, et al. J Cell Mol Med, 2021 Oct. PMID 34545688, Free PMC Article
    2. The gene structure and expression of human ABHD1: overlapping polyadenylation signal sequence with Sec12. Edgar AJ. BMC Genomics, 2003 May 7. PMID 12735795, Free PMC Article
    3. Cloning and tissue distribution of three murine alpha/beta hydrolase fold protein cDNAs. Edgar AJ, et al. Biochem Biophys Res Commun, 2002 Apr 5. PMID 11922611
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children.
      Title: Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children.
    2. The mouse ortholog of ABHD1 is sequenced and tissue-specific mRNA expression is described.
      Title: Cloning and tissue distribution of three murine alpha/beta hydrolase fold protein cDNAs.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36128

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetylesterase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables monoacylglycerol lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in medium-chain fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in medium-chain fatty acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein ABHD1
    Names
    abhydrolase domain-containing protein 1
    alpha/beta hydrolase domain-containing protein 1
    lung alpha/beta hydrolase 1
    testicular tissue protein Li 5

    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_032604.4 → NP_115993.3  protein ABHD1

      See identical proteins and their annotated locations for NP_115993.3

      Status: REVIEWED

      Source sequence(s)
      BC039576, DB455979
      Consensus CDS
      CCDS1736.1
      UniProtKB/Swiss-Prot
      B3KSF6, E9PDR9, Q05BY3, Q53SZ1, Q8IXQ7, Q96SE0
      UniProtKB/TrEMBL
      A0A140VJD1
      Related
      ENSP00000326491.4, ENST00000316470.9
      Conserved Domains (2) summary
      pfam00561
      Location:123 → 364
      Abhydrolase_1; alpha/beta hydrolase fold
      cl21494
      Location:46 → 377
      Abhydrolase; alpha/beta hydrolases

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      27123815..27130812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533136.4 → XP_011531438.1  protein ABHD1 isoform X2

      See identical proteins and their annotated locations for XP_011531438.1

      UniProtKB/Swiss-Prot
      Q96SE0
      Related
      ENSP00000481238.1, ENST00000621324.4
      Conserved Domains (1) summary
      cl21494
      Location:46 → 289
      Abhydrolase; alpha/beta hydrolases

    2. XM_011533135.4 → XP_011531437.1  protein ABHD1 isoform X1

      Conserved Domains (1) summary
      cl21494
      Location:46 → 286
      Abhydrolase; alpha/beta hydrolases

    3. XM_011533138.4 → XP_011531440.1  protein ABHD1 isoform X4

      Conserved Domains (1) summary
      cl21494
      Location:31 → 223
      Abhydrolase; alpha/beta hydrolases

    4. XM_011533137.4 → XP_011531439.1  protein ABHD1 isoform X3

      Conserved Domains (1) summary
      cl21494
      Location:46 → 271
      Abhydrolase; alpha/beta hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27165161..27172457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344224.1 → XP_054200199.1  protein ABHD1 isoform X2

    2. XM_054344223.1 → XP_054200198.1  protein ABHD1 isoform X1

    3. XM_054344225.1 → XP_054200200.1  protein ABHD1 isoform X3

    4. XM_054344226.1 → XP_054200201.1  protein ABHD1 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152870.1: Suppressed sequence

      Description
      NM_152870.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96SE0.3 GenPept UniProtKB/Swiss-Prot:Q96SE0

    Gene LinkOut

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

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