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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IAH1 Gene

protein-coding   GIFtS: 41
GCID: GC02P009533

isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)
 Explore 1 disease affiliated with
IAH1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for IAH1    

Aliases
for IAH1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Isoamyl Acetate-Hydrolyzing Esterase 1 Homolog (S. Cerevisiae)1 2
Isoamyl Acetate-Hydrolyzing Esterase 1 Homolog2
EC 3.1.-.-3
S5

External Ids:    HGNC: 276961   Entrez Gene: 2851482   Ensembl: ENSG000001343307   OMIM: 6022125   UniProtKB: Q2TAA23   

Export aliases for IAH1 gene to outside databases


Summaries
for IAH1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: IAH1_HUMAN, Q2TAA2
Function: Probable lipase (By similarity)




Genomic Views
for IAH1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005334.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IAH1 gene promoter:
         MEF-2   NRSF form 1   NF-kappaB   NRSF form 2   MEF-2A   FOXO1a   aMEF-2   NF-kappaB1   ATF6   FOXO1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for IAH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IAH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p25.1   Ensembl cytogenetic band:  2p25.1   HGNC cytogenetic band: 2p25.1

IAH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IAH1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P009533:  view genomic region     (about GC identifiers)

Start:
 9,613,787 bp from pter      End:
 9,636,672 bp from pter
Size:
 22,886 bases      Orientation:
 plus strand

Proteins
for IAH1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: IAH1_HUMAN, Q2TAA2 (See protein sequence)
Recommended Name: Isoamyl acetate-hydrolyzing esterase 1 homolog  
Size: 248 amino acids; 27599 Da

Explore the universe of human proteins at neXtProt for IAH1: NX_Q2TAA2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q2TAA2

    • IAH1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001034702.1  
    ENSEMBL proteins: 
     ENSP00000418492   ENSP00000419110   ENSP00000417580   ENSP00000419224   ENSP00000419368  
     ENSP00000419807   ENSP00000314400   ENSP00000420532   ENSP00000420562   ENSP00000438534  

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    Uscn Proteins for IAH1


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    Uscn Antibodies for IAH1
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    Uscn ELISAs and CLIAs for IAH1

    Protein Domains /
    Families
    for IAH1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IAH1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR013831 SGNH_hydro-type_esterase_dom
     IPR001087 Lipase_GDSL

    Graphical View of Domain Structure for InterPro Entry Q2TAA2

    ProtoNet protein and cluster: Q2TAA2

    1 Blocks protein family: IPB001087 Lipolytic enzyme

    UniProtKB/Swiss-Prot: IAH1_HUMAN, Q2TAA2
    Similarity: Belongs to the 'GDSL' lipolytic enzyme family. IAH1 subfamily


    Function
    for IAH1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: IAH1_HUMAN, Q2TAA2
    Function: Probable lipase (By similarity)

    Enzyme Number (IUBMB): EC 3.1.-.-1

    miRNA
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    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IAH1 (see all 7)
    OriGene shRNA RFP: IAH1
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    Gene Editing
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    Clone
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IAH1 

    Cell Line
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    Search LifeMap BioReagents cell lines for IAH1

    In Situ Assay
    Products:       
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for IAH1

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016787hydrolase activity ----
    GO:0016788hydrolase activity, acting on ester bonds IEA--


    IAH1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for IAH1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IAH1

    5/10 Interacting proteins for IAH1 (Q2TAA23) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADCK3Q8NI603I2D: score=1 
    ADH5P117663I2D: score=1 
    ATP5OP480473I2D: score=1 
    COQ2Q96H963I2D: score=1 
    FAAHO005193I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0016042lipid catabolic process IEA--


    IAH1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for IAH1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IAH1
    Search CenterWatch for drugs/clinical trials and news about IAH1 

    Transcripts
    for IAH1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for IAH1 gene: 
    NM_001039613.1  

    Unigene Cluster for IAH1:

    Isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)
    Hs.570189  [show with all ESTs]
    Unigene Representative Sequence: AK092982
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000496603 ENST00000482918 ENST00000497473(uc002qzr.3 uc002qzt.3)
    ENST00000470914(uc002qzs.3) ENST00000492223 ENST00000495050 ENST00000481367
    ENST00000351760 ENST00000481688 ENST00000489468 ENST00000495797 ENST00000495494
    ENST00000487850 ENST00000484826 ENST00000490621 ENST00000545602(uc010yiz.2)


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IAH1
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IAH1 (see all 7)
    OriGene shRNA RFP: IAH1
    OriGene siRNA: IAH1
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): IAH1 (NM_001006610)
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    Primer
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    Additional cDNA sequence: 

    AK074513.1 AK092982.1 AK291984.1 AK297648.1 BC019061.1 BC039709.1 BC059410.1 BC067865.1 
    BC111025.1 

    11 DOTS entries:

    DT.99954967  DT.97840889  DT.100027352  DT.100785393  DT.91750056  DT.100671075  DT.92425569  DT.97843151 
    DT.99950019  DT.75199142  DT.99966454 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for IAH1 (see all 11)    About this scheme

    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:                                            -                       -                             -     -                                       


    ECgene alternative splicing isoforms for IAH1

    Expression
    for IAH1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IAH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGCAGTACC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    IAH1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyMetanephrosKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 9 LifeMap Cells 
    NameCategory
    Human umbilical vein endothelial cells (HUVEC) (Primary Cell)Endothelium
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E44 (Embryonic Progenitor Cell)
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor F15 (Embryonic Progenitor Cell)
    HyStem+BMP4-induced E15 cells (HyStem+BMP4 inductio...)Adipose, Bone, Cartilage

    See IAH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IAH1

    SOURCE GeneReport for Unigene cluster: Hs.570189
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    In Situ
    Assay Products:     
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    Orthologs
    for IAH1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for IAH1 gene from 7/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Iah11 , 5 isoamyl acetate-hydrolyzing esterase 1 homolog (S. more1, 5 82.8(n)1
    83.87(a)1    		   12 (8.30 cM)5
    677321  NM_026347.31  NP_080623.21 
     213163925 
    chicken
    (Gallus gallus)    		 Aves IAH11 isoamyl acetate-hydrolyzing esterase 1 homolog (S. more 70.77(n)
    72.13(a)    		   421930  XM_419943.3  XP_419943.2 
    lizard
    (Anolis carolinensis)    		 Reptilia IAH16
    		 --
    		 67(a)
    		 1 ↔ 1
    		 1(148447976-148453490)
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.149912 Transcribed sequence with weak similarity to protein more 73.71(n)    BQ131015.1 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes IAH1(YOR126C)4
    IAH11    		 Isoamyl acetate-hydrolyzing esterase, required in balance more4
    Iah1p1    		 45.75(n)1
    35.85(a)1    		   15(560677-559961)4
    8542931, 4  NP_014769.31  NP_014769.14 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G459201 GDSL esterase/lipase 48.57(n)
    45.25(a)    		   834632  NM_123960.4  NP_199404.3 
    rice
    (Oryza sativa)    		 Liliopsida Os01g02142001 hypothetical protein 51.95(n)
    47.3(a)    		   4325253  NM_001048921.1  NP_001042386.1 


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

    Paralogs
    for IAH1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for IAH1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/276 NCBI SNPs in IAH1 are shown (see all 276)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs124736151,2
    		A,H--9473468(+) gtgtgC/TgCGCG 1 -- int10--------
    rs1406146271,2
    		--9613759(+) GTCCTC/GCCACC 1 -- us2k10--------
    rs770307471,2
    		F,--9613873(+) AGTCAT/GGCTCT 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1457582761,2
    		--9613929(+) GCGCCC/TCTGGC 1 -- us2k10--------
    rs1898225891,2
    		--9613939(+) CCCTTC/GTGTTA 1 -- us2k10--------
    rs1820431181,2
    		--9613947(+) TTACTA/CATCTA 1 -- us2k10--------
    rs561775571,2
    		C,--9614218(+) TGCCAG/TGGTTT 1 -- us2k14Minor allele frequency- T:0.14NA CSA WA 241
    rs1166734361,2
    		F,--9614344(+) CCACCG/AAGAGC 1 -- us2k11Minor allele frequency- A:0.34WA 118
    rs1146572351,2
    		F,--9614347(+) CCGAGA/GGCCAG 1 -- us2k11Minor allele frequency- G:0.33WA 118
    rs1384003691,2
    		--9614444(+) AGGGCC/TCCCAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for IAH1 (9613787 - 9636672 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for IAH1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IAH1
    DNA2.0 Custom Variant and Variant Library Synthesis for IAH1

    Disorders / Diseases
    for IAH1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    IAH1 for disorders           About GeneDecksing

    OMIM gene information: 602212    OMIM disorders: --

    1 disease for IAH1:    About MalaCards
    alcoholism


    Export disorders for IAH1 gene to outside databases

    Publications
    for IAH1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for IAH1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with IAH1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

    External Searches for IAH1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing IAH1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 285148 HGNC: 27696 Ensembl:ENSG00000134330 euGenes: HUgn285148 ECgene: IAH1
    H-InvDB: IAH1

    Other Databases showing IAH1 gene

    (According to HUGE)
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    Specialized Databases showing IAH1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IAH1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
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    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    		Patent Information for IAH1 gene:
    Search GeneIP for patents involving IAH1

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