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Hhat Gene Detail
Summary
  • Symbol
    Hhat
  • Name
    hedgehog acyltransferase
  • Synonyms
    2810432O22Rik, AP-2CRE, Skn, Tg(TFAP2A-cre)1Will
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444681
    NCBI Gene: 226861
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:192496711-192771223 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      274513 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 97.55 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    HHAT, hedgehog acyltransferase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HHAT, hedgehog acyltransferase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MART2, SKI1, Skn
  • Links
    NCBI Gene ID: 55733
    neXtProt AC: NX_Q5VTY9
    UniProt: Q5VTY9

  • Chr Location
    1q32.2; chr1:210327873-210676298 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 41232
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: HHAT
  • Protein SuperFamily
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Hhat mouse models

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
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  • Phenotype Summary
    55 phenotypes from 3 alleles in 2 genetic backgrounds
    15 phenotypes from multigenic genotypes
    17 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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000027097 VEGA Gene Model | MGI Sequence Detail 274513 C57BL/6J ±  kb
    transcript OTTMUST00000067020 VEGA | MGI Sequence Detail 1800 Not Applicable  
    polypeptide OTTMUSP00000033669 VEGA | MGI Sequence Detail 507 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      2656 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • EC
    • InterPro Domains
      IPR004299 Membrane bound O-acyl transferase, MBOAT
      IPR032981 Protein-cysteine N-palmitoyltransferase HHAT
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 16
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:3034628, MGI:3038359
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 2
      Phenotypes 17
    • 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:252110 Iulianella A, et al., Ventral neural patterning in the absence of a Shh activity gradient from the floorplate. Dev Dyn. 2018 Jan;247(1):170-184

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory