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    Hacd1 3-hydroxyacyl-CoA dehydratase 1 [ Mus musculus (house mouse) ]

    Gene ID: 30963, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Hacd1provided by MGI
    Official Full Name
    3-hydroxyacyl-CoA dehydratase 1provided by MGI
    Primary source
    MGI:MGI:1353592
    See related
    Ensembl:ENSMUSG00000063275 AllianceGenome:MGI:1353592
    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
    Ptpla
    Summary
    Predicted to enable enzyme binding activity; hydro-lyase activity; and hydroxyapatite binding activity. Acts upstream of or within myotube differentiation; regulation of G1/S transition of mitotic cell cycle; and regulation of G2/M transition of mitotic cell cycle. Predicted to be located in endoplasmic reticulum. Predicted to be integral component of endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; embryo mesenchyme; ganglia; musculature; and vibrissa follicle. Orthologous to human HACD1 (3-hydroxyacyl-CoA dehydratase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bladder adult (RPKM 8.8), heart adult (RPKM 5.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 A1- A2; 2 10.3 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (14031642..14060846, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (14026831..14056035, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene vimentin Neighboring gene ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 Neighboring gene STARR-seq mESC enhancer starr_03712 Neighboring gene STARR-seq mESC enhancer starr_03715 Neighboring gene STARR-positive B cell enhancer ABC_E3359 Neighboring gene STARR-positive B cell enhancer ABC_E10082 Neighboring gene STARR-positive B cell enhancer ABC_E7793 Neighboring gene STARR-seq mESC enhancer starr_03717 Neighboring gene STARR-seq mESC enhancer starr_03718 Neighboring gene STARR-seq mESC enhancer starr_03719 Neighboring gene STARR-seq mESC enhancer starr_03720 Neighboring gene STARR-seq mESC enhancer starr_03721 Neighboring gene STARR-seq mESC enhancer starr_03722 Neighboring gene signal transducing adaptor molecule (SH3 domain and ITAM motif) 1, opposite strand Neighboring gene signal transducing adaptor molecule (SH3 domain and ITAM motif) 1

    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
    • 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. Cardiolipin content controls mitochondrial coupling and energetic efficiency in muscle. Prola A, et al. Sci Adv, 2021 Jan. PMID 33523852, Free PMC Article
    2. The 3-hydroxyacyl-CoA dehydratases HACD1 and HACD2 exhibit functional redundancy and are active in a wide range of fatty acid elongation pathways. Sawai M, et al. J Biol Chem, 2017 Sep 15. PMID 28784662, Free PMC Article
    3. Molecular cloning, chromosomal mapping, and developmental expression of a novel protein tyrosine phosphatase-like gene. Uwanogho DA, et al. Genomics, 1999 Dec 15. PMID 10644438
    4. HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth. Blondelle J, et al. J Mol Cell Biol, 2015 Oct. PMID 26160855, Free PMC Article
    5. Protein tyrosine phosphatase-like A regulates myoblast proliferation and differentiation through MyoG and the cell cycling signaling pathway. Lin X, et al. Mol Cell Biol, 2012 Jan. PMID 22106411, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of function in myoblasts, knockout mice and spontaneously affected Labrador retrievers leads to reduced myoblast fusion (hypotrophy), associated with modified lipid composition and physical properties of membranes.
      Title: HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.
    2. Mutations in HACD1 can result in myopathies in humans; knockout mice lacking Hacd1 develop myopathic phenotypes. Data (including data from studies using knockout mice and cultured cells from knockout mice) suggest that HACD1 and HACD2 exhibit overlapping substrate specificities and thus appear to represent redundant activities in skeletal muscle.
      Title: The 3-hydroxyacyl-CoA dehydratases HACD1 and HACD2 exhibit functional redundancy and are active in a wide range of fatty acid elongation pathways.
    3. Data reveal that HACD1 is a key regulator of a lipid-dependent muscle fibre growth mechanism.
      Title: HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.
    4. Ptpla regulates myogenesis through Myog.
      Title: Protein tyrosine phosphatase-like A regulates myoblast proliferation and differentiation through MyoG and the cell cycling signaling pathway.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2)  1 citation
    • Endonuclease-mediated (3) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3-hydroxyacyl-CoA dehydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3-hydroxyacyl-CoA dehydratase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydroxyapatite binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cementum mineralization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fatty acid elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid elongation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within myotube differentiation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of cell-substrate adhesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein-containing complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of G2/M transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sphingolipid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sphingolipid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in very long-chain fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in very long-chain fatty acid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1
    Names
    protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a
    protein-tyrosine phosphatase-like member A
    very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 1
    NP_001012396.2
    NP_038963.3

    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_001012396.2 → NP_001012396.2  very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 isoform 2

      See identical proteins and their annotated locations for NP_001012396.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK004461, AK085898, BE633820
      Consensus CDS
      CCDS50504.1
      UniProtKB/TrEMBL
      A2AQ81, Q3V4A5
      Related
      ENSMUSP00000088998.6, ENSMUST00000091429.12
      Conserved Domains (1) summary
      cl02156
      Location:79 → 133
      PTPLA; Protein tyrosine phosphatase-like protein, PTPLA

    2. NM_013935.3 → NP_038963.3  very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 isoform 1

      See identical proteins and their annotated locations for NP_038963.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK010119, AK085898, BE633820
      Consensus CDS
      CCDS50505.1
      UniProtKB/Swiss-Prot
      Q9D6P7, Q9QY80
      UniProtKB/TrEMBL
      B9EHK9
      Related
      ENSMUSP00000110401.2, ENSMUST00000114753.8
      Conserved Domains (1) summary
      pfam04387
      Location:79 → 238
      PTPLA; Protein tyrosine phosphatase-like protein, PTPLA

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      14031642..14060846 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9QY80.1 GenPept UniProtKB/Swiss-Prot:Q9QY80

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