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

Gene ID: 285148, updated on 6-Sep-2022

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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See IAH1 in Genome Data Viewer
Location:
2p25.1
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (9473812..9512408)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (9499599..9514768)
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 integrin subunit beta 1 binding protein 1 Neighboring gene cleavage and polyadenylation specific factor 3 Neighboring gene ADAM metallopeptidase domain 17 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 4047

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 (17) 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 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
    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/Swiss-Prot
    Q2TAA2
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    9499599..9514768
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2TAA2.1 GenPept UniProtKB/Swiss-Prot:Q2TAA2

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