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    IAH1 isoamyl acetate hydrolyzing esterase 1 (putative) [ Homo sapiens (human) ]

    Gene ID: 285148, updated on 11-Jun-2021

    Summary

    Official Symbol
    IAH1provided by HGNC
    Official Full Name
    isoamyl acetate hydrolyzing esterase 1 (putative)provided by HGNC
    Primary source
    HGNC:HGNC:27696
    See related
    Ensembl:ENSG00000134330
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Ubiquitous expression in testis (RPKM 6.4), adrenal (RPKM 3.7) and 25 other tissues See more
    Orthologs
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    Genomic context

    See IAH1 in Genome Data Viewer
    Location:
    2p25.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (9474532..9512403)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (9614680..9629871)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 Neighboring gene integrin subunit beta 1 binding protein 1 Neighboring gene cleavage and polyadenylation specific factor 3 Neighboring gene uncharacterized LOC107985850 Neighboring gene ADAM metallopeptidase domain 17 Neighboring gene uncharacterized LOC101929643

    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

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC102860

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    isoamyl acetate-hydrolyzing esterase 1 homolog
    Names
    testicular tissue protein Li 92

    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_001039613.3NP_001034702.1  isoamyl acetate-hydrolyzing esterase 1 homolog isoform a precursor

      See identical proteins and their annotated locations for NP_001034702.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AA761915, AC080162, BC111025
      Consensus CDS
      CCDS42651.1
      UniProtKB/Swiss-Prot
      Q2TAA2
      UniProtKB/TrEMBL
      A0A140VJL6
      Related
      ENSP00000417580.1, ENST00000497473.6
      Conserved Domains (1) summary
      cd01838
      Location:17216
      Isoamyl_acetate_hydrolase_like; Isoamyl-acetate hydrolyzing esterase-like proteins. SGNH_hydrolase subfamily similar to the Saccharomyces cerevisiae IAH1. IAH1 may be the major esterase that hydrolyses isoamyl acetate in sake mash. The SGNH-family of hydrolases is a diverse family of ...
    2. NM_001320858.2NP_001307787.1  isoamyl acetate-hydrolyzing esterase 1 homolog isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AA761915, AC080162, BC111025, BF447213
      UniProtKB/Swiss-Prot
      Q2TAA2
      Conserved Domains (1) summary
      cd01838
      Location:2191
      Isoamyl_acetate_hydrolase_like; Isoamyl-acetate hydrolyzing esterase-like proteins. SGNH_hydrolase subfamily similar to the Saccharomyces cerevisiae IAH1. IAH1 may be the major esterase that hydrolyses isoamyl acetate in sake mash. The SGNH-family of hydrolases is a diverse family of ...
    3. NM_001320859.2NP_001307788.1  isoamyl acetate-hydrolyzing esterase 1 homolog isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' end compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3, 4, and 5 all encode the same isoform (c).
      Source sequence(s)
      AA761915, AC080162, BC019061
      Consensus CDS
      CCDS82418.1
      UniProtKB/Swiss-Prot
      Q2TAA2
      UniProtKB/TrEMBL
      Q05D21
      Related
      ENSP00000419224.1, ENST00000470914.5
      Conserved Domains (1) summary
      cl01053
      Location:1103
      SGNH_hydrolase; or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely resembles the typical ...
    4. NM_001320860.2NP_001307789.1  isoamyl acetate-hydrolyzing esterase 1 homolog isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction and lacks an alternate exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3, 4, and 5 all encode the same isoform (c).
      Source sequence(s)
      AA761915, AC080162, BC067865
      Consensus CDS
      CCDS82418.1
      UniProtKB/Swiss-Prot
      Q2TAA2
      UniProtKB/TrEMBL
      Q6NVV8
      Conserved Domains (1) summary
      cl01053
      Location:1103
      SGNH_hydrolase; or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely resembles the typical ...
    5. NM_001320863.2NP_001307792.1  isoamyl acetate-hydrolyzing esterase 1 homolog isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice junction in the 5' end compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3, 4, and 5 all encode the same isoform (c).
      Source sequence(s)
      AA761915, AC080162, BC111025, BM553525, HY094056
      Consensus CDS
      CCDS82418.1
      UniProtKB/Swiss-Prot
      Q2TAA2
      Related
      ENSP00000419110.1, ENST00000482918.5
      Conserved Domains (1) summary
      cl01053
      Location:1103
      SGNH_hydrolase; or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely resembles the typical ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      9474532..9512403
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452813.1XP_024308581.1  isoamyl acetate-hydrolyzing esterase 1 homolog isoform X1

      Conserved Domains (1) summary
      cd01838
      Location:45240
      Isoamyl_acetate_hydrolase_like; Isoamyl-acetate hydrolyzing esterase-like proteins. SGNH_hydrolase subfamily similar to the Saccharomyces cerevisiae IAH1. IAH1 may be the major esterase that hydrolyses isoamyl acetate in sake mash. The SGNH-family of hydrolases is a diverse family of ...

    RNA

    1. XR_001738721.1 RNA Sequence

    2. XR_002959282.1 RNA Sequence

    3. XR_001738718.1 RNA Sequence

    4. XR_426950.2 RNA Sequence

    5. XR_001738723.1 RNA Sequence

    6. XR_001738724.1 RNA Sequence

    7. XR_426953.3 RNA Sequence

    8. XR_001738722.1 RNA Sequence

    9. XR_002959279.1 RNA Sequence

    10. XR_002959281.1 RNA Sequence

    11. XR_002959280.1 RNA Sequence

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