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Abhd5 Gene Detail
Summary
  • Symbol
    Abhd5
  • Name
    abhydrolase domain containing 5
  • Synonyms
    1300003D03Rik, 2010002J10Rik, CGI-58, IECN5, NCIE2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914719
    NCBI Gene: 67469
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:122180681-122210589 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 73.03 cM, cytoband F4
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    764 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914719
 protein coding gene Chr9:122180673-122210589 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035460
 protein coding gene Chr9:125337301-125367958 (+)
A/J MGP_AJ_G0035441
 protein coding gene Chr9:120551765-120583041 (+)
AKR/J MGP_AKRJ_G0035374
 protein coding gene Chr9:123783988-123816315 (+)
BALB/cJ MGP_BALBcJ_G0035437
 protein coding gene Chr9:120469566-120501940 (+)
C3H/HeJ MGP_C3HHeJ_G0035144
 protein coding gene Chr9:124234604-124264424 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035960
 protein coding gene Chr9:128783234-128812627 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032842
 protein coding gene Chr9:117704953-117731000 (+)
CAST/EiJ MGP_CASTEiJ_G0034449
 protein coding gene Chr9:124263699-124291958 (+)
CBA/J MGP_CBAJ_G0035112
 protein coding gene Chr9:133501287-133535117 (+)
DBA/2J MGP_DBA2J_G0035271
 protein coding gene Chr9:120005465-120034627 (+)
FVB/NJ MGP_FVBNJ_G0035218
 protein coding gene Chr9:118925623-118955473 (+)
LP/J MGP_LPJ_G0035350
 protein coding gene Chr9:125673891-125706938 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035259
 protein coding gene Chr9:134365617-134396147 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035979
 protein coding gene Chr9:124223504-124254957 (+)
PWK/PhJ MGP_PWKPhJ_G0034153
 protein coding gene Chr9:120460350-120487450 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033990
 protein coding gene Chr9:124335808-124369855 (+)
WSB/EiJ MGP_WSBEiJ_G0034569
 protein coding gene Chr9:124080718-124107682 (+)



Homology
more
  • Human Ortholog
    ABHD5, abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABHD5, abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
  • Synonyms
    CGI58, IECN2, NCIE2
  • Links
    NCBI Gene ID: 51099
    neXtProt AC: NX_Q8WTS1
    UniProt: Q8WTS1

  • Chr Location
    3p21.33; chr3:43690108-43734371 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Abhd5 mouse models; 3 with human ABHD5 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    62 phenotypes from 5 alleles in 6 genetic backgrounds
    5 images
    21 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    13
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    847
  • Tissues
    42
  • cDNA Data
    14
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 67469 NCBI Gene Model | MGI Sequence Detail 29909 C57BL/6J ±  kb
    transcript NM_026179 RefSeq | MGI Sequence Detail 3148 C57BL/6  
    polypeptide Q9DBL9 UniProt | EBI | MGI Sequence Detail 351 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 14
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1917092
    References
    more
    • Summaries
      All 81
      Developmental Gene Expression 8
      Diseases 1
      Gene Ontology 13
      Phenotypes 21
    • 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
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory