HACD1 - 3-hydroxyacyl-CoA dehydratase 1 Gene

Also Known as CAP; MYONP; PTPLA

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 9200

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	参考文献	由来
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	参考文献	由来
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	参考文献	由来
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	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS05984	HACD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22545	Hacd1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29065	Hacd1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	HACD1	NCBI