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    Hhat hedgehog acyltransferase [ Mus musculus (house mouse) ]

    Gene ID: 226861, updated on 12-May-2024

    Summary

    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, Apr 2022]
    Expression
    Ubiquitous expression in ovary adult (RPKM 4.9), adrenal adult (RPKM 4.5) and 26 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    General gene information

    Markers

    Clone Names

    • MGC11697

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables acyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleotide 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 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    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 membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_144881.5NP_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:152448
      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_011238934.4XP_011237236.1  protein-cysteine N-palmitoyltransferase HHAT isoform X1

      Conserved Domains (1) summary
      pfam03062
      Location:161457
      MBOAT; membrane-bound O-acyltransferase family
    2. XM_017320220.3XP_017175709.1  protein-cysteine N-palmitoyltransferase HHAT isoform X2

      Conserved Domains (1) summary
      cl00738
      Location:55351
      MBOAT; membrane-bound O-acyltransferase family
    3. XM_017320221.3XP_017175710.1  protein-cysteine N-palmitoyltransferase HHAT isoform X3

      Conserved Domains (1) summary
      cl00738
      Location:1214
      MBOAT; membrane-bound O-acyltransferase family