Gene Symbol | HACD1 |
Entrez Gene ID | 574011 |
Full Name | 3-hydroxyacyl-CoA dehydratase 1 |
Synonyms | PTPLA |
Gene Type | protein-coding |
Organism | Canis lupus familiaris(dog) |
ORF » Species Summary » Canis lupus familiaris » HACD1 cDNA ORF clone
Gene Symbol | HACD1 |
Entrez Gene ID | 574011 |
Full Name | 3-hydroxyacyl-CoA dehydratase 1 |
Synonyms | PTPLA |
Gene Type | protein-coding |
Organism | Canis lupus familiaris(dog) |
mRNA | Protein | Name |
---|---|---|
NM_001025269.1 | NP_001020440.1 | very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 |
Canis lupus familiaris (dog) | PTPLA | NP_001020440.1 |
Gallus gallus (chicken) | PTPLA | XP_418620.2 |
Danio rerio (zebrafish) | LOC553326 | XP_699783.2 |
Homo sapiens (human) | PTPLA | NP_055056.3 |
Mus musculus (house mouse) | Ptpla | NP_038963.3 |
Rattus norvegicus (Norway rat) | Ptpla | NP_001094471.1 |
Anopheles gambiae (African malaria mosquito) | AgaP_AGAP003815 | XP_310376.5 |
Pan troglodytes (chimpanzee) | PTPLA | XP_003312513.1 |
Bos taurus (cattle) | PTPLA | XP_002692150.1 |
Saccharomyces cerevisiae (baker's yeast) | PHS1 | NP_012438.1 |
Schizosaccharomyces pombe (fission yeast) | SPBC19C2.15c | NP_595700.1 |
Magnaporthe oryzae (rice blast fungus) | MGG_07602 | XP_003711520.1 |
Xenopus tropicalis (tropical clawed frog) | ptpla | XP_002939049.2 |
PTPLA | XP_001091308.1 | |
Kluyveromyces lactis | KLLA0F14146g | XP_455715.1 |
Oryza sativa (rice) | Os01g0150800 | NP_001042035.1 |
Oryza sativa (rice) | Os01g0150500 | NP_001042034.2 |
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.
Walmsley GL, Blot S, Venner K, Sewry C, Laporte J, Blondelle J, Barth?l?my I, Maurer M, Blanchard-Gutton N, Pilot-Storck F, Tiret L, Piercy RJ
The American journal of pathology187(2)441-456(2017 Feb)
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.
Blondelle J, Ohno Y, Gache V, Guyot S, Storck S, Blanchard-Gutton N, Barth?l?my I, Walmsley G, Rahier A, Gadin S, Maurer M, Guillaud L, Prola A, Ferry A, Aubin-Houzelstein G, Demarquoy J, Relaix F, Piercy RJ, Blot S, Kihara A, Tiret L, Pilot-Storck F
Journal of molecular cell biology7(5)429-40(2015 Oct)
Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.
Maurer M, Mary J, Guillaud L, Fender M, Pel? M, Bilzer T, Olby N, Penderis J, Shelton GD, Panthier JJ, Thibaud JL, Barth?l?my I, Aubin-Houzelstein G, Blot S, Hitte C, Tiret L
PloS one7(10)e46408(2012)
SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.
Pel? M, Tiret L, Kessler JL, Blot S, Panthier JJ
Human molecular genetics14(11)1417-27(2005 Jun)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
confirm that dogs deficient in HACD1 are relevant models
Title: Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.
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.
Labrador retrievers carrying two copies of a unique HACD1 loss-of-function allele that recently disseminated worldwide, are all affected by a congenital myopathy, confirming its role in muscle development.
Title: Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.
A loss-of-function mutation identified by genetic mapping in a French pedigree of Labrador retrievers causes a congenital myopathy named centronuclear myopathy (CNM).
Title: SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.
The following HACD1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the HACD1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
CloneID | OCe00213 | |
Clone ID Related Accession (Same CDS sequence) | NM_001025269.1 | |
Accession Version | NM_001025269.1 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 750bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | User Manual |
Clone information | Clone Map | MSDS |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-02-20 | |
Organism | Canis lupus familiaris(dog) | |
Product | very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AJ876904.1. On or before Jul 26, 2007 this sequence version replaced XM_843275.1, XM_850889.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein. ##Evidence-Data-START## Transcript exon combination :: AJ876904.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00013596, SAMN00013600 [ECO:0000348] ##Evidence-Data-END## |
1 | ATGGCGTCCA GCGAGGAGGA CGGCACCAAC GGCGGCGCCT CGGAGGCCGG CGAGGAGAAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_001020440.1 |
CDS | 42..791 |
Translation |
Target ORF information:
Target ORF information:
|
NM_001025269.1 |
1 | ATGGCGTCCA GCGAGGAGGA CGGCACCAAC GGCGGCGCCT CGGAGGCCGG CGAGGAGAAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems. |
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth. |
Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. |
SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. |