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Hhat hedgehog acyltransferase [ Mus musculus (house mouse) ]

Gene ID: 226861, updated on 5-Mar-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
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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)

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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_144881.5NP_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