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

    Gene ID: 285148, updated on 5-Mar-2024

    Summary

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    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 AllianceGenome:HGNC:27696
    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
    Summary
    Enables identical protein binding activity. Predicted to be involved in lipid catabolic process. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 6.4), adrenal (RPKM 3.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p25.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (9473812..9512408)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (9498848..9538747)
    105.20220307 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:9562108-9562966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11133 Neighboring gene integrin subunit beta 1 binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15278 Neighboring gene cleavage and polyadenylation specific factor 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:9614491-9615258 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:9615739-9616299 Neighboring gene ADAM metallopeptidase domain 17 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15279 Neighboring gene Sharpr-MPRA regulatory region 4047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11136 Neighboring gene Sharpr-MPRA regulatory region 1969 Neighboring gene uncharacterized LOC101929643

    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. Detection of differentially expressed candidate genes for a fatty liver QTL on mouse chromosome 12. Kobayashi M, et al. BMC Genet, 2016 Jun 6. PMID 27266874, Free PMC Article
    2. Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. Seppälä I, et al. Eur Heart J, 2014 Feb. PMID 24159190
    3. TRIP12 ubiquitination of glucocerebrosidase contributes to neurodegeneration in Parkinson's disease. Seo BA, et al. Neuron, 2021 Dec 1. PMID 34644545, Free PMC Article
    4. Alterations in the brain interactome of the intrinsically disordered N-terminal domain of the cellular prion protein (PrPC) in Alzheimer's disease. Ulbrich S, et al. PLoS One, 2018. PMID 29791485, Free PMC Article
    5. WWP2 ubiquitylates RNA polymerase II for DNA-PK-dependent transcription arrest and repair at DNA breaks. Caron P, et al. Genes Dev, 2019 Jun 1. PMID 31048545, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC102860

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity, acting on ester bonds 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

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

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

      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
      B4DMV3, Q2TAA2
      UniProtKB/TrEMBL
      A0A140VJL6, H7C5G1
      Related
      ENSP00000417580.1, ENST00000497473.6
      Conserved Domains (1) summary
      cd01838
      Location:17 → 216
      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_001320858.2 → NP_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/TrEMBL
      H7C5G1
      Conserved Domains (1) summary
      cd01838
      Location:2 → 191
      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_001320859.2 → NP_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:1 → 103
      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_001320860.2 → NP_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:1 → 103
      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_001320863.2 → NP_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:1 → 103
      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: 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
      9473812..9512408
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007073108.1 RNA Sequence

    2. XR_007073110.1 RNA Sequence

    3. XR_007073106.1 RNA Sequence

    4. XR_007073105.1 RNA Sequence

    5. XR_001738723.2 RNA Sequence

    6. XR_001738721.2 RNA Sequence

    7. XR_001738724.2 RNA Sequence

    8. XR_002959282.2 RNA Sequence

    9. XR_001738718.2 RNA Sequence

    10. XR_426950.3 RNA Sequence

    11. XR_007073104.1 RNA Sequence

    12. XR_426953.4 RNA Sequence

    13. XR_007073109.1 RNA Sequence

    14. XR_001738722.2 RNA Sequence

    15. XR_007073107.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      9498848..9538747
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008486339.1 RNA Sequence

    2. XR_008486340.1 RNA Sequence

    3. XR_008486344.1 RNA Sequence

    4. XR_008486335.1 RNA Sequence

    5. XR_008486337.1 RNA Sequence

    6. XR_008486333.1 RNA Sequence

    7. XR_008486334.1 RNA Sequence

    8. XR_008486336.1 RNA Sequence

    9. XR_008486341.1 RNA Sequence

    10. XR_008486343.1 RNA Sequence

    11. XR_008486342.1 RNA Sequence

    12. XR_008486338.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2TAA2.1 GenPept UniProtKB/Swiss-Prot:Q2TAA2

    Gene LinkOut

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

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