Free for academic non-profit institutions. Other users need a Commercial license

Aliases for IAH1 Gene

Aliases for IAH1 Gene

  • Isoamyl Acetate Hydrolyzing Esterase 1 (Putative) 2 3 5
  • Isoamyl Acetate-Hydrolyzing Esterase 1 Homolog (S. Cerevisiae) 2
  • EC 3.1.-.- 4

External Ids for IAH1 Gene

Previous GeneCards Identifiers for IAH1 Gene

  • GC02P009533
  • GC02P009613

Summaries for IAH1 Gene

GeneCards Summary for IAH1 Gene

IAH1 (Isoamyl Acetate Hydrolyzing Esterase 1 (Putative)) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include hydrolase activity and hydrolase activity, acting on ester bonds.

UniProtKB/Swiss-Prot for IAH1 Gene

  • Probable lipase.

Additional gene information for IAH1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IAH1 Gene

Genomics for IAH1 Gene

GeneHancer (GH) Regulatory Elements for IAH1 Gene

Promoters and enhancers for IAH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I009473 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 561.2 +1.3 1273 2.9 HDGF RB1 SIN3A ZNF76 YBX1 ZNF2 ZNF48 RAD21 ZNF335 GLIS2 IAH1 GC02M009473 ENSG00000239300 ADAM17 PIR49256
GH02I009546 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 +78.5 78512 10.5 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC MEF2D ZNF610 ADAM17 CPSF3 LOC101929882 TAF1B ENSG00000239300 IAH1 ENSG00000271855
GH02I009421 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.8 -50.1 -50137 3.4 PKNOX1 SMAD1 ARID4B NEUROD1 SIN3A DMAP1 YY1 POLR2B ZNF213 E2F8 CPSF3 ITGB1BP1 TAF1B ENSG00000239300 IAH1 ASAP2 ADAM17 GC02M009313
GH02I009537 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10 +65.0 65033 3.4 EBF1 BMI1 CHAMP1 CC2D1A ATF7 IKZF2 RUNX3 RFX1 NFIA NR2F1 ADAM17 IAH1 CPSF3 ENSG00000271855 ENSG00000239300
GH02I009627 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.2 +156.8 156846 5.6 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT MLX ARID4B NEUROD1 SIN3A DMAP1 YWHAQ LOC101929882 ENSG00000239300 CPSF3 RNU4-73P ENSG00000240960 KLF11 TAF1B IAH1 ENSG00000207086
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IAH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IAH1 gene promoter:

Genomic Locations for IAH1 Gene

Genomic Locations for IAH1 Gene
chr2:9,473,658-9,517,208
(GRCh38/hg38)
Size:
43,551 bases
Orientation:
Plus strand
chr2:9,613,787-9,636,672
(GRCh37/hg19)

Genomic View for IAH1 Gene

Genes around IAH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IAH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IAH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IAH1 Gene

Proteins for IAH1 Gene

  • Protein details for IAH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2TAA2-IAH1_HUMAN
    Recommended name:
    Isoamyl acetate-hydrolyzing esterase 1 homolog
    Protein Accession:
    Q2TAA2
    Secondary Accessions:
    • B4DMV3

    Protein attributes for IAH1 Gene

    Size:
    248 amino acids
    Molecular mass:
    27599 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for IAH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IAH1 Gene

Post-translational modifications for IAH1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for IAH1 Gene

Domains & Families for IAH1 Gene

Gene Families for IAH1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for IAH1 Gene

Graphical View of Domain Structure for InterPro Entry

Q2TAA2

UniProtKB/Swiss-Prot:

IAH1_HUMAN :
  • Belongs to the GDSL lipolytic enzyme family. IAH1 subfamily.
Family:
  • Belongs to the GDSL lipolytic enzyme family. IAH1 subfamily.
genes like me logo Genes that share domains with IAH1: view

Function for IAH1 Gene

Molecular function for IAH1 Gene

UniProtKB/Swiss-Prot Function:
Probable lipase.

Enzyme Numbers (IUBMB) for IAH1 Gene

Gene Ontology (GO) - Molecular Function for IAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with IAH1: view
genes like me logo Genes that share phenotypes with IAH1: view

Animal Models for IAH1 Gene

MGI Knock Outs for IAH1:
  • Iah1 tm1b(EUCOMM)Hmgu

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IAH1 Gene

Localization for IAH1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IAH1 gene
Compartment Confidence
extracellular 5
nucleus 3
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA,HDA 23376485
genes like me logo Genes that share ontologies with IAH1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for IAH1 Gene

Pathways & Interactions for IAH1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for IAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016042 lipid catabolic process IEA --
genes like me logo Genes that share ontologies with IAH1: view

No data available for Pathways by source and SIGNOR curated interactions for IAH1 Gene

Drugs & Compounds for IAH1 Gene

No Compound Related Data Available

Transcripts for IAH1 Gene

mRNA/cDNA for IAH1 Gene

(6) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IAH1 Gene

Isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for IAH1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b · 10c · 10d · 10e · 10f
SP1: - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - -
SP9: - - - - - -
SP10: -
SP11: - -

Relevant External Links for IAH1 Gene

GeneLoc Exon Structure for
IAH1
ECgene alternative splicing isoforms for
IAH1

Expression for IAH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IAH1 Gene

Protein differential expression in normal tissues from HIPED for IAH1 Gene

This gene is overexpressed in Serum (13.3) and Uterus (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IAH1 Gene



Protein tissue co-expression partners for IAH1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IAH1 Gene:

IAH1

SOURCE GeneReport for Unigene cluster for IAH1 Gene:

Hs.744980

Evidence on tissue expression from TISSUES for IAH1 Gene

  • Nervous system(4.4)
  • Liver(4.3)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with IAH1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IAH1 Gene

Orthologs for IAH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IAH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IAH1 33 34
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia IAH1 33 34
  • 85.75 (n)
mouse
(Mus musculus)
Mammalia Iah1 33 16 34
  • 82.8 (n)
cow
(Bos Taurus)
Mammalia IAH1 33 34
  • 82.26 (n)
oppossum
(Monodelphis domestica)
Mammalia IAH1 34
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Iah1 33
  • 81.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IAH1 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves IAH1 33 34
  • 70.49 (n)
lizard
(Anolis carolinensis)
Reptilia IAH1 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iah1 33
  • 67.25 (n)
zebrafish
(Danio rerio)
Actinopterygii iah1 33 34
  • 61.45 (n)
Dr.14991 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10296 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IAH1 34 36
  • 33 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G45920 33
  • 48.42 (n)
rice
(Oryza sativa)
Liliopsida Os01g0214200 33
  • 52.1 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8601 34
  • 40 (a)
OneToOne
Species where no ortholog for IAH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IAH1 Gene

ENSEMBL:
Gene Tree for IAH1 (if available)
TreeFam:
Gene Tree for IAH1 (if available)

Paralogs for IAH1 Gene

No data available for Paralogs for IAH1 Gene

Variants for IAH1 Gene

Sequence variations from dbSNP and Humsavar for IAH1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs554069834 uncertain-significance, Inflammatory skin and bowel disease, neonatal 1 9,505,179(+) C/T genic_downstream_transcript_variant, intron_variant
rs56237316 benign, Inflammatory skin and bowel disease, neonatal 1 9,497,202(+) A/G/T genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs79932015 benign, Inflammatory skin and bowel disease, neonatal 1 9,490,409(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000161658 -- 9,483,108(+) T/C intron_variant
rs1000267267 -- 9,475,089(+) C/T 5_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IAH1 Gene

Variant ID Type Subtype PubMed ID
nsv580915 CNV gain 21841781

Variation tolerance for IAH1 Gene

Residual Variation Intolerance Score: 48.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IAH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IAH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IAH1 Gene

Disorders for IAH1 Gene

Additional Disease Information for IAH1

No disorders were found for IAH1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for IAH1 Gene

Publications for IAH1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R … Boisvert FM (Molecular & cellular proteomics : MCP 2015) 3 58
  5. Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. (PMID: 24159190) Seppälä I … AtheroRemo Consortium (European heart journal 2014) 3 58

Products for IAH1 Gene

Sources for IAH1 Gene

Content
Loading form....