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Hhat hedgehog acyltransferase [ Mus musculus (house mouse) ]

Gene ID: 226861, updated on 2-Nov-2024

Summary

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Official Symbol
Hhatprovided by MGI
Official Full Name
hedgehog acyltransferaseprovided by MGI
Primary source
MGI:MGI:2444681
See related
Ensembl:ENSMUSG00000037375 AllianceGenome:MGI:2444681
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Skn; AP-2CRE; 2810432O22Rik; Tg(TFAP2A-cre)1Will
Summary
Enables palmitoyltransferase activity. Involved in N-terminal peptidyl-L-cysteine N-palmitoylation. Acts upstream of or within protein palmitoylation and smoothened signaling pathway. Predicted to be located in Golgi apparatus. Predicted to be active in endoplasmic reticulum. Is expressed in branchial arch; embryo; embryo ectoderm; and limb. Used to study chondrodysplasia-pseudohermaphroditism syndrome. Human ortholog(s) of this gene implicated in chondrodysplasia-pseudohermaphroditism syndrome. Orthologous to human HHAT (hedgehog acyltransferase). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in ovary adult (RPKM 4.9), adrenal adult (RPKM 4.5) and 26 other tissues See more
Orthologs
human all
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Genomic context

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See Hhat in Genome Data Viewer
Location:
1 H6; 1 97.55 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (192195133..192453546, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (192512825..192771219, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39745 Neighboring gene potassium voltage-gated channel, subfamily H (eag-related), member 1 Neighboring gene STARR-seq mESC enhancer starr_03453 Neighboring gene STARR-seq mESC enhancer starr_03454 Neighboring gene STARR-seq mESC enhancer starr_03455 Neighboring gene STARR-seq mESC enhancer starr_03457 Neighboring gene STARR-seq mESC enhancer starr_03458 Neighboring gene STARR-seq mESC enhancer starr_03459 Neighboring gene predicted gene, 31011 Neighboring gene STARR-positive B cell enhancer ABC_E2599 Neighboring gene STARR-positive B cell enhancer ABC_E503 Neighboring gene STARR-seq mESC enhancer starr_03462 Neighboring gene predicted gene, 22265 Neighboring gene STARR-seq mESC enhancer starr_03464 Neighboring gene VISTA enhancer mm646 Neighboring gene RIKEN cDNA A730013G03 gene Neighboring gene predicted gene, 31078

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Hedgehog Acyltransferase Promotes Uptake of Palmitoyl-CoA across the Endoplasmic Reticulum Membrane. Asciolla JJ, et al. Cell Rep, 2019 Dec 24. PMID 31875564, Free PMC Article
  2. Frontonasal process-specific disruption of AP-2alpha results in postnatal midfacial hypoplasia, vascular anomalies, and nasal cavity defects. Nelson DK, et al. Dev Biol, 2004 Mar 1. PMID 14975718
  3. Hydronephrosis in the Wnt5a-ablated kidney is caused by an abnormal ureter-bladder connection. Yun K, et al. Differentiation, 2017 Mar-Apr. PMID 27923152, Free PMC Article
  4. Cre-mediated recombination can induce apoptosis in vivo by activating the p53 DNA damage-induced pathway. Zhu J, et al. Genesis, 2012 Feb. PMID 21913308, Free PMC Article
  5. Mammalian Gup1, a homolog of Saccharomyces cerevisiae glycerol uptake/transporter 1, acts as a negative regulator for N-terminal palmitoylation of Sonic hedgehog. Abe Y, et al. FEBS J, 2008 Jan. PMID 18081866

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hedgehog Acyltransferase Promotes Uptake of Palmitoyl-CoA across the Endoplasmic Reticulum Membrane.
    Title: Hedgehog Acyltransferase Promotes Uptake of Palmitoyl-CoA across the Endoplasmic Reticulum Membrane.
  2. Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects.
    Title: Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC11697

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables palmitoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables palmitoyltransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in N-terminal peptidyl-L-cysteine N-palmitoylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in N-terminal peptidyl-L-cysteine N-palmitoylation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within protein palmitoylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein-cysteine N-palmitoyltransferase HHAT
Names
skinny hedgehog protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_144881.5 → NP_659130.2  protein-cysteine N-palmitoyltransferase HHAT

    See identical proteins and their annotated locations for NP_659130.2

    Status: VALIDATED

    Source sequence(s)
    AC105325, AC115917, AL365317
    Consensus CDS
    CCDS15628.1
    UniProtKB/Swiss-Prot
    B1ANS0, Q3TA33, Q8BMT9, Q922G3
    UniProtKB/TrEMBL
    A0A0A6YWJ4
    Related
    ENSMUSP00000046686.6, ENSMUST00000044190.12
    Conserved Domains (1) summary
    pfam03062
    Location:152 → 448
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    192195133..192453546 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011238934.4 → XP_011237236.1  protein-cysteine N-palmitoyltransferase HHAT isoform X1

    Conserved Domains (1) summary
    pfam03062
    Location:161 → 457
    MBOAT; membrane-bound O-acyltransferase family

  2. XM_017320220.3 → XP_017175709.1  protein-cysteine N-palmitoyltransferase HHAT isoform X2

    Conserved Domains (1) summary
    cl00738
    Location:55 → 351
    MBOAT; membrane-bound O-acyltransferase family

  3. XM_017320221.3 → XP_017175710.1  protein-cysteine N-palmitoyltransferase HHAT isoform X3

    Conserved Domains (1) summary
    cl00738
    Location:1 → 214
    MBOAT; membrane-bound O-acyltransferase family
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BMT9.1 GenPept UniProtKB/Swiss-Prot:Q8BMT9

Gene LinkOut

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