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Hhat Gene Detail
Summary
  • Symbol
    Hhat
  • Name
    hedgehog acyltransferase
  • Synonyms
    2810432O22Rik, Skn
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444681
    NCBI Gene: 226861
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:192195133-192453546 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 97.55 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6977 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444681
 protein coding gene Chr1:192179019-192453546 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016954
 protein coding gene Chr1:199551180-199830851 (-)
A/J MGP_AJ_G0016933
 protein coding gene Chr1:191351548-191622367 (-)
AKR/J MGP_AKRJ_G0016898
 protein coding gene Chr1:197047881-197326268 (-)
BALB/cJ MGP_BALBcJ_G0016891
 protein coding gene Chr1:192025698-192295692 (-)
C3H/HeJ MGP_C3HHeJ_G0016715
 protein coding gene Chr1:197905883-198177583 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017354
 protein coding gene Chr1:205926585-206202894 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015061
 protein coding gene Chr1:182237449-182497054 (-)
CAST/EiJ MGP_CASTEiJ_G0016298
 protein coding gene Chr1:197484971-197755577 (-)
CBA/J MGP_CBAJ_G0016689
 protein coding gene Chr1:213555025-213841686 (-)
DBA/2J MGP_DBA2J_G0016795
 protein coding gene Chr1:190083475-190346258 (-)
FVB/NJ MGP_FVBNJ_G0016791
 protein coding gene Chr1:188201394-188467153 (-)
LP/J MGP_LPJ_G0016870
 protein coding gene Chr1:200734325-201011572 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016823
 protein coding gene Chr1:220169165-220454307 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017391
 protein coding gene Chr1:196892466-197152743 (-)
PWK/PhJ MGP_PWKPhJ_G0016085
 protein coding gene Chr1:189378668-189653847 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015861
 protein coding gene Chr1:195909190-196186824 (-)
WSB/EiJ MGP_WSBEiJ_G0016360
 protein coding gene Chr1:197169948-197445980 (-)



Homology
more
  • Human Ortholog
    HHAT, hedgehog acyltransferase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HHAT, hedgehog acyltransferase
  • Synonyms
    MART2, NNMS, SKI1, Skn
  • Links
    NCBI Gene ID: 55733
    neXtProt AC: NX_Q5VTY9
    UniProt: Q5VTY9

  • Chr Location
    1q32.2; chr1:210327328-210676296 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Hhat mouse models; 1 with human HHAT associations

Human Disease Mouse Models
      
IDs
 View 1 model
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
    63 phenotypes from 4 alleles in 3 genetic backgrounds
    15 phenotypes from multigenic genotypes
    19 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.
Homozygous null mice display neonatal lethality, holoprosencephaly, short-limb dwarfism, and oligodactyly.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    6
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
    713
  • Tissues
    7
  • cDNA Data
    17
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 226861 NCBI Gene Model | MGI Sequence Detail 258414 C57BL/6J ±  kb
    transcript NM_144881 RefSeq | MGI Sequence Detail 2857 C57BL/6  
    polypeptide Q8BMT9 UniProt | EBI | MGI Sequence Detail 499 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 17
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:3034628, MGI:3038359
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 6
      Phenotypes 19
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:297026 Asciolla JJ, et al., Hedgehog Acyltransferase Promotes Uptake of Palmitoyl-CoA across the Endoplasmic Reticulum Membrane. Cell Rep. 2019 Dec 24;29(13):4608-4619.e4
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory