HACD1 - 3-hydroxyacyl-CoA dehydratase 1 Gene

Homo sapiens

Also known as CAP; MYONP; PTPLA

Gene ID: 9200 | Gene type: protein coding

About HACD1

Cytogenetic location: 10p12.33 Genomic coordinates (GRCh38): 10:17,589,032-17,617,374 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in heart (RPKM 20.1), prostate (RPKM 5.4) and 14 other tissues.

Summary

The protein encoded by this gene contains a characteristic catalytic motif of the Protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in Other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008]

HACD1 Products(1)

mRNA	Protein	Name
NM_014241.4	NP_055056.3	very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 3-hydroxyacyl-CoA dehydratase activity	EXP EXP: Inferred from Experiment	18554506	GOA
enables enzyme binding	IDA IDA: Inferred from direct assay	18554506	GOA
enables hydroxyapatite binding	IDA IDA: Inferred from direct assay	22067203	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase activity	IDA IDA: Inferred from direct assay	18554506	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cementum mineralization	IDA IDA: Inferred from direct assay	25263524	GOA
involved in fatty acid elongation	IDA IDA: Inferred from direct assay	18554506	GOA
involved in positive regulation of cell-substrate adhesion	IDA IDA: Inferred from direct assay	22067203	GOA
involved in protein-containing complex assembly	IDA IDA: Inferred from direct assay	25263524	GOA
involved in sphingolipid biosynthetic process	IGI IGI: Inferred from genetic interaction	18554506	GOA
involved in very long-chain fatty acid biosynthetic process	IDA IDA: Inferred from direct assay	18554506	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	18554506	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HACD1 Protein Structure

PTPLA

0
100
200
288 a.a.

Protein Preferred Names

Protein Names

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

cementum attachment protein

HACD1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	HACD1	B0YJ81	IL10RA	Homo sapiens	Q13651	Y2H Prey Pooling	32296183
Intra	HACD1	B0YJ81	IL10RA	Homo sapiens	Q13651	Validated Y2H	32296183
Intra	HACD1	B0YJ81	IL10RA	Homo sapiens	Q13651	Y2H Array	32296183
Intra	HACD1	B0YJ81	RNF170	Homo sapiens	Q96K19-5	Y2H Prey Pooling	32296183
Intra	HACD1	B0YJ81	RNF170	Homo sapiens	Q96K19-5	Validated Y2H	32296183
Intra	HACD1	B0YJ81	RNF170	Homo sapiens	Q96K19-5	Y2H Array	32296183
Intra	HACD1	B0YJ81	CPLX4	Homo sapiens	Q7Z7G2	Y2H Prey Pooling	32296183
Intra	HACD1	B0YJ81	CPLX4	Homo sapiens	Q7Z7G2	Validated Y2H	32296183
Intra	HACD1	B0YJ81	CPLX4	Homo sapiens	Q7Z7G2	Y2H Array	32296183
Intra	HACD1	B0YJ81	TMEM106C	Homo sapiens	Q9BVX2	Validated Y2H	32296183
Intra	HACD1	B0YJ81	TMEM106C	Homo sapiens	Q9BVX2	Y2H Array	32296183
Intra	HACD1	B0YJ81	TMEM106C	Homo sapiens	Q9BVX2	Y2H Prey Pooling	32296183
Intra	HACD1	B0YJ81	TMEM106C	Homo sapiens	Q9BVX2	Complementation	32296183
Intra	HACD1	B0YJ81	TECR	Homo sapiens	Q9NZ01	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Myopathy, Congenital, Nonprogressive

MYONP

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion	Cftdm
Congenital Myopathy With Fiber Type Disproportion	Cftd
Congenital Fiber-Type Disproportion Myopathy	Fiber-Type Disproportion Myopathy, Congenital
Myopathy, Congenital With Fiber-Type Disproportion

Warburg Micro Syndrome 1

Warburg Micro Syndrome	Micro Syndrome
Warbm	WARBM1
Warburg Sjo Fledelius Syndrome	Warburg-Sjo-Fledelius Syndrome
Micro Syndrome 1	Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Myopathy, Congenital, With Fiber-Type Disproportion

CFTD	Fiber-Type Disproportion Myopathy, Congenital
Cftdm	Myopathy, Congenital, With Fiber-Type Disproportion 1
Congenital Fiber-Type Disproportion Myopathy	Myopathy, Congenital, With Fiber Type Disproportion

Balantidiasis

Balantidiosis	Human Balantidiasis
B Coli Infection	Balantidium Coli Infection
Large-Intestinal Infection With Balantidium Coli	Ciliary Dysentery

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy	CNM1
Centronuclear Myopathy 1	Ad-Cnm
Myopathy, Centronuclear, Autosomal Dominant	Myotubular Myopathy, Autosomal Dominant
Centronuclear Myopathy, Autosomal, Modifier Of	Autosomal Dominant Myotubular Myopathy
Dnm2-Related Centronuclear Myopathy	Centronuclear Myopathy Autosomal Dominant
Myopathies, Structural, Congenital	Myopathy, Centronuclear, Type 1

Myopathy

Muscular Diseases

Myopathies

Nemaline Myopathy 10

NEM10

Myopathy, Nemaline, Type 10

Warburg Micro Syndrome 3

WARBM3

Micro Syndrome 3

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Warburg Micro Syndrome 2

WARBM2

Micro Syndrome 2

Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy	Xlmtm
X-Linked Centronuclear Myopathy	Xlcnm
CNMX	Mtm1
Myotubular Myopathy, X-Linked	Mtmx
Myotubular Myopathy 1	Centronuclear Myopathy X-Linked
Myotubular Myopathy	Mtm
Cnm	Xmtm
Myotubular Myopathy Type 1

Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive	Autosomal Recessive Centronuclear Myopathy
CNM2	Centronuclear Myopathy 2
Ar-Cnm	Myotubular Myopathy, Autosomal Recessive
Autosomal Recessive Myotubular Myopathy	Centronuclear Myopathy Autosomal Recessive
Myopathy, Centronuclear, Type 2

Batten-Turner Congenital Myopathy

Congenital Myopathy	Batten Turner Congenital Myopathy
Myopathy Congenital	Myopathy, Congenital
Myotonia Congenita	Benign Congenital Myopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05984	HACD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	HACD1	VGNC	VGNC:73381
Felis catus	HACD1	VGNC	VGNC:84029
Rattus norvegicus	HACD1	RGD	RGD:1595507
Canis familiaris	HACD1	VGNC	VGNC:52135
Mus musculus	HACD1	MGD	MGI:1353592
Bos taurus	HACD1	VGNC	VGNC:29737

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