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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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