HACD1 3-hydroxyacyl-CoA dehydratase 1 [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: HACD1provided by VGNC
Official Full Name: 3-hydroxyacyl-CoA dehydratase 1provided by VGNC
Primary source: VGNC:VGNC:52135
See related: Ensembl:ENSCAFG00845013804
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Also known as: PTPLA
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	2	NC_051806.1 (19652419..19672996)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	2	NC_006584.4 (16464086..16484685)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	2	NC_049223.1 (18310361..18330963)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	2	NC_049262.1 (16855006..16875380)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	2	NC_049743.1 (17690591..17711318)

Chromosome 2 - NC_051806.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Longitudinal analyses in myopathic Labrador retrievers reveal several membrane-associated defects, including ultrastructural triads dysmorphogenesis and mitochondrial mislocalization.
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.
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.
Haplotype analysis demonstrated that the PTPLA(cnm) allele resulted from a single and recent mutational event that may have rapidly disseminated through the extensive use of popular sires
Title: Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.
Described herein is a disease-associated insertion within PTPLA exon 2, found in both alleles of all affected Labradors and in a single allele in obligate carriers
Title: SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.

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General gene information

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Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables 3-hydroxyacyl-CoA dehydratase activity	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in fatty acid elongation	IEA Inferred from Electronic Annotation more info	PubMed
involved_in sphingolipid biosynthetic process	IEA Inferred from Electronic Annotation more info	PubMed
involved_in very long-chain fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1

Names: Protein-tyrosine phosphatase-like member A; protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A; very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 1

NP_001020440.1

EC 4.2.1.134

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)

NM_001025269.1 → NP_001020440.1 very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1

See identical proteins and their annotated locations for NP_001020440.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.

Source sequence(s)

AJ876904

UniProtKB/Swiss-Prot

Q4W1W0, Q4W1W1

UniProtKB/TrEMBL

A0A8C0RW13, A0A8I3NS97

Related

ENSCAFP00845019383.1, ENSCAFT00845024639.1

Conserved Domains (1) summary

pfam04387
Location:80 → 239

PTPLA; Protein tyrosine phosphatase-like protein, PTPLA

RNA

NR_131895.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AJ876905