Aliases for IAH1 Gene

Aliases for IAH1 Gene

  • Isoamyl Acetate Hydrolyzing Esterase 1 (Putative) 2 3 5
  • Isoamyl Acetate-Hydrolyzing Esterase 1 Homolog 3 4
  • Isoamyl Acetate-Hydrolyzing Esterase 1 Homolog (S. Cerevisiae) 2
  • Testicular Tissue Protein Li 92 3
  • EC 3.1.-.- 4
  • IAH1 5

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. Diseases associated with IAH1 include Inflammatory Skin And Bowel Disease, Neonatal, 1 and 3-Methylglutaconic Aciduria, Type I. Gene Ontology (GO) annotations related to this gene include hydrolase activity and hydrolase activity, acting on ester bonds.

UniProtKB/Swiss-Prot Summary for IAH1 Gene

Additional gene information for IAH1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IAH1 Gene

Genomics for IAH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IAH1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IAH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IAH1

Top Transcription factor binding sites by QIAGEN in the IAH1 gene promoter:
  • aMEF-2
  • ATF6
  • FOXO1
  • FOXO1a
  • MEF-2
  • MEF-2A
  • NF-kappaB
  • NF-kappaB1
  • NRSF form 1
  • NRSF form 2

Genomic Locations for IAH1 Gene

Genomic Locations for IAH1 Gene
chr2:9,473,658-9,512,403
(GRCh38/hg38)
Size:
38,746 bases
Orientation:
Plus strand
chr2:9,613,787-9,636,672
(GRCh37/hg19)
Size:
22,886 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

InterPro:
Blocks:
  • Lipolytic enzyme, G-D-S-L family
ProtoNet:

Suggested Antigen Peptide Sequences for IAH1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60023 (B4DMV3_HUMAN)
  • Isoamyl acetate-hydrolyzing esterase 1 homolog (IAH1_HUMAN)
  • IAH1 protein (Q05D21_HUMAN)
  • IAH1 protein (Q6NVV8_HUMAN)
  • IAH1 protein (Q6PCA9_HUMAN)

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

Phenotypes From GWAS Catalog for IAH1 Gene

Gene Ontology (GO) - Molecular Function for IAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0016788 hydrolase activity, acting on ester bonds 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 Iah1<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for IAH1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IAH1

No data available for 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 2
nucleus 2
plasma membrane 1
mitochondrion 1
cytosol 1
peroxisome 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for IAH1 Gene

Pathways & Interactions for IAH1 Gene

PathCards logo

SuperPathways for IAH1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for IAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
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

5 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IAH1

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

Expression for IAH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for IAH1 Gene



Protein tissue co-expression partners for IAH1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IAH1

SOURCE GeneReport for Unigene cluster for IAH1 Gene:

Hs.744980

Evidence on tissue expression from TISSUES for IAH1 Gene

  • Nervous system(4.5)
  • Liver(4.4)
  • Intestine(4.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with IAH1: view

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 30 31
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IAH1 30 31
  • 85.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Iah1 30 17 31
  • 82.8 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IAH1 30 31
  • 82.26 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IAH1 31
  • 82 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Iah1 30
  • 81.45 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia IAH1 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IAH1 30 31
  • 70.49 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IAH1 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia iah1 30
  • 67.25 (n)
Zebrafish
(Danio rerio)
Actinopterygii iah1 30 31
  • 61.45 (n)
OneToOne
Dr.14991 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10296 30
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IAH1 31 33
  • 33 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G45920 30
  • 48.42 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0214200 30
  • 52.1 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8601 31
  • 40 (a)
OneToOne
Species where no ortholog for IAH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IAH1: view image

Paralogs for IAH1 Gene

No data available for Paralogs for IAH1 Gene

Variants for IAH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IAH1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
640542 Pathogenic: Inflammatory skin and bowel disease, neonatal 1 9,502,175(+) GT/G FRAMESHIFT_VARIANT
643543 Uncertain Significance: Inflammatory skin and bowel disease, neonatal 1 9,505,215(+) C/T MISSENSE_VARIANT
644241 Uncertain Significance: Inflammatory skin and bowel disease, neonatal 1 9,497,150(+) C/T MISSENSE_VARIANT
644916 Uncertain Significance: Inflammatory skin and bowel disease, neonatal 1 9,494,734(+) T/G MISSENSE_VARIANT
646830 Uncertain Significance: Inflammatory skin and bowel disease, neonatal 1 9,509,996(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for IAH1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for IAH1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for IAH1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search IAH1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with IAH1: view

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

Publications for IAH1 Gene

  1. Detection of differentially expressed candidate genes for a fatty liver QTL on mouse chromosome 12. (PMID: 27266874) Kobayashi M … Horio F (BMC genetics 2016) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3

Products for IAH1 Gene

Sources for IAH1 Gene