1. Gene
  2. HACD1 - 3-hydroxyacyl-CoA dehydratase 1 Gene

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

HACD1 Protein Structure

PTPLA

PTPLA: Protein tyrosine phosphatase-like protein, PTPLA (119 - 279)

  • 0
  • 100
  • 200
  • 288 a.a.
Protein Preferred Names Protein Names

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

cementum attachment protein

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

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