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

    Gene ID: 84696, updated on 5-Mar-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See ABHD1 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27123815..27130812)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27165161..27172457)
    105.20220307 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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 acylglycerol lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    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

    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)

    NEW Try the new Transcript table

    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_032604.4NP_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:123364
      Abhydrolase_1; alpha/beta hydrolase fold
      cl21494
      Location:46377
      Abhydrolase; alpha/beta hydrolases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_011533136.4XP_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:46289
      Abhydrolase; alpha/beta hydrolases
    2. XM_011533135.4XP_011531437.1  protein ABHD1 isoform X1

      Conserved Domains (1) summary
      cl21494
      Location:46286
      Abhydrolase; alpha/beta hydrolases
    3. XM_011533138.4XP_011531440.1  protein ABHD1 isoform X4

      Conserved Domains (1) summary
      cl21494
      Location:31223
      Abhydrolase; alpha/beta hydrolases
    4. XM_011533137.4XP_011531439.1  protein ABHD1 isoform X3

      Conserved Domains (1) summary
      cl21494
      Location:46271
      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_054344224.1XP_054200199.1  protein ABHD1 isoform X2

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

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

    4. XM_054344226.1XP_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.