Iah1 Gene Detail

Summary

• Symbol
  Iah1
• Name
  isoamyl acetate-hydrolyzing esterase 1 homolog
• Synonyms
  1500019E20Rik, 4833421E05Rik

• Feature Type
  protein coding gene
• IDs
  MGI:1914982
  NCBI Gene: 67732
• Alliance
  gene page
• Transcription Start Sites
  2 TSS
• Candidate for QTL
  1 QTL

Location &
Maps

• Sequence Map
  Chr12:21366363-21373608 bp, + strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 12, 8.30 cM
• Mapping Data
  3 experiments

Strain
Comparison

• SNPs within 2kb
  323 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914982	protein coding gene	Chr12:21366363-21373820 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019624	protein coding gene	Chr12:18870441-18877652 (+)
A/J	MGP_AJ_G0019591	protein coding gene	Chr12:18160944-18168169 (+)
AKR/J	MGP_AKRJ_G0019562	protein coding gene	Chr12:18998457-19005680 (+)
BALB/cJ	MGP_BALBcJ_G0019568	protein coding gene	Chr12:18537321-18544546 (+)
C3H/HeJ	MGP_C3HHeJ_G0019372	protein coding gene	Chr12:18891624-18898835 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020016	protein coding gene	Chr12:19570976-19578189 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017641	protein coding gene	Chr12:17761221-17768701 (+)
CAST/EiJ	MGP_CASTEiJ_G0018927	protein coding gene	Chr12:16161878-16169063 (+)
CBA/J	MGP_CBAJ_G0019344	protein coding gene	Chr12:20307890-20315101 (+)
DBA/2J	MGP_DBA2J_G0019457	protein coding gene	Chr12:18193472-18200739 (+)
FVB/NJ	MGP_FVBNJ_G0019448	protein coding gene	Chr12:18093798-18101009 (+)
LP/J	MGP_LPJ_G0019527	protein coding gene	Chr12:18971248-18978460 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019483	protein coding gene	Chr12:20126762-20133973 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020055	protein coding gene	Chr12:18572991-18580204 (+)
PWK/PhJ	MGP_PWKPhJ_G0018693	protein coding gene	Chr12:15468179-15475400 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018482	protein coding gene	Chr12:15864099-15871275 (+)
WSB/EiJ	MGP_WSBEiJ_G0018978	protein coding gene	Chr12:18758398-18765607 (+)

Homology

• Human Ortholog
  IAH1, isoamyl acetate hydrolyzing esterase 1 (putative)

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  IAH1, isoamyl acetate hydrolyzing esterase 1 (putative)
  
• Links
  HGNC:27696

  NCBI Gene ID: 285148

  neXtProt AC: NX_Q2TAA2

  UniProt: Q2TAA2

  
  
• Chr Location
  2p25.1; chr2:9473658-9512408 (+)  GRCh38

---

• MGI Vertebrate Homology
  Iah1 stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: IAH1
• Gene Tree
  Iah1
  

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  6 phenotypes from 2 alleles in 3 genetic backgrounds
  10 phenotype references
  

• All Mutations and Alleles
  7
• Endonuclease-mediated
  3
• Gene trapped
  1
• Targeted
  3
• Find Mice (IMSR)
  13 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Mice homozygous for a null allele exhibit increased mesenteric fat pad without affecting liver lipid accumulation.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  4
• GO References
  4

Expression

• Assay Results
  794
• Tissues
  11
• cDNA Data
  8
• Literature Summary
  1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase iah1
  ZFIN iah1

Sequences &
Gene Models

• All Sequences
  52
• RefSeq
  10
• UniProt
  4
• CCDS
  CCDS25835.1

• Ensembl
  ENSMUSG00000062054 (Evidence)
• NCBI Gene
  67732

Representative Sequences			Length	Strain/Species
genomic	67732	NCBI Gene Model | MGI Sequence Detail	7246	C57BL/6J
transcript	NM_026347	RefSeq | MGI Sequence Detail	941	C57BL/6
polypeptide	Q9DB29	UniProt | EBI | MGI Sequence Detail	249	Not Applicable

Protein
Information

• UniProt
  4 Sequences
• Protein Ontology
  PR:000008874 isoamyl acetate-hydrolyzing esterase 1
  (term hierarchy)
• EC
  3.1.-.-
• InterPro Domains
  IPR001087 GDSL lipase/esterase
  IPR045136 Isoamyl acetate-hydrolyzing esterase Iah1-like
  IPR036514 SGNH hydrolase superfamily
• GlyGen
  Q9DB29 1 site, 1 O-linked glycan (1 site)

Molecular
Reagents

• All nucleic 8

  cDNA 8

  
  

  Microarray probesets 4

Other
Accession IDs

MGI:1916243

References

• Summaries
  All 33

  Developmental Gene Expression 1

  Gene Ontology 4

  Phenotypes 10
• Earliest
  J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
• Latest
  J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Iah1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr112930	Chr12:21366386-21366401 (+)	31 bp
Tssr112931	Chr12:21366409-21366436 (+)	60 bp

Iah1 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Fl1sa	Chr12, 13.69 cM		J:289414	Nonalcoholic fatty liver disease (NAFLD) is a pathological condition caused by excess triglyceride deposition in the liver. The SMXA-5 severe fatty liver mouse model has been established from the SM/J and A/J strains. To explore the genetic factors involved in fatty liver development in SMXA-5 mice, the authors had previously performed QTL analysis, using (SM/JSMXA-5)F2 intercross mice, and identified Fl1sa on Chromosome 12 (centromere-53.06 Mb) as a significant QTL for fatty liver. Isoamyl acetate-hydrolyzing esterase 1 homolog (Iah1) was selected as the most likely candidate gene for Fl1sa. Iah1 gene expression in fatty liver-resistant A/J-12SM mice was significantly higher than in fatty liver-susceptible A/J mice. These data indicated that the Iah1 gene might be associated with fatty liver development. However, the function of murine Iah1 remains unknown. Therefore, in this study, the authors created Iah1 knockout (KO) mice with two different backgrounds [C57BL/6N (B6) and A/J-12SM (A12)] to investigate the relationship between Iah1 and liver lipid accumulation. Liver triglyceride accumulation in Iah1-KO mice of B6 or A12 background did not differ from their respective Iah1-wild type mice under a high-fat diet. These results indicated that loss of Iah1 did not contribute to fatty liver. On the other hand, adipose tissue dysfunction causes lipid accumulation in ectopic tissues (liver, skeletal muscle, and pancreas). To investigate the effect of Iah1 deficiency on white adipose tissue, the authors performed DNA microarray analysis of epididymal fat in Iah1-KO mice of A12 background. This result showed that Iah1 deficiency might decrease adipokines Sfrp4 and Metrnl gene expression in epididymal fat. This study demonstrated that Iah1 deficiency did not cause liver lipid accumulation and that Iah1 was not a suitable candidate gene for Fl1sa.
Fl1sa	Chr12, 13.69 cM		J:240255	The SMXA-5 mouse is an animal model of high-fat diet-induced fatty liver. The major QTL for fatty liver, Fl1sa on chromosome 12, was previously identified in a SM/J SMXA-5 intercross. The SMXA-5 genome consists of the SM/J and A/J genomes, and the A/J allele of Fl1sa is the fatty liver-susceptibility allele. The existence of the responsible genes for fatty liver within Fl1sa was confirmed in A/J-Chr 12 consomic mice. [J:124974]. The aim of the current study was to identify candidate genes for Fl1sa, and to investigate whether the identified genes affect the lipid metabolism. To identify candidate genes for Fl1sa, DNA microarray analysis was performed using the livers of A/J-Chr 12 and A/J mice that were fed a high-fat diet. The mRNA levels of three genes (Iah1, Rrm2, Prkd1) in the chromosomal region of Fl1sa were significantly different between the strains. Iah1 mRNA levels in the liver, kidney, and lung were significantly higher in A/J-Chr 12 mice than in A/J mice. The hepatic Iah1 mRNA level in A/J-Chr 12 mice was 3.2-fold higher than that in A/J mice. A stable cell line expressing the mouse Iah1 protein in mouse hepatoma Hepa1-6 cells was constructed. Overexpression of Iah1 in Hepa1-6 cells suppressed the mRNA levels of Cd36 and Dgat2, genes which play important roles in triglyceride synthesis and lipid metabolism.

*cM position of peak correlated region/marker