Entity Details

Primary name HACD1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionB0YJ81
EntryNameHACD1_HUMAN
FullNameVery-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1
TaxID9606
Evidenceevidence at protein level
Length288
SequenceStatuscomplete
DateCreated2008-09-02
DateModified2021-06-02

Ontological Relatives

GenesHACD1

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0007275 multicellular organism development
GO:0010811 positive regulation of cell-substrate adhesion
GO:0018812 3-hydroxyacyl-CoA dehydratase activity
GO:0019899 enzyme binding
GO:0030148 sphingolipid biosynthetic process
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0030497 fatty acid elongation
GO:0034622 cellular protein-containing complex assembly
GO:0035338 long-chain fatty-acyl-CoA biosynthetic process
GO:0042761 very long-chain fatty acid biosynthetic process
GO:0046848 hydroxyapatite binding
GO:0071529 cementum mineralization
GO:0102158 very-long-chain 3-hydroxyacyl-CoA dehydratase activity
GO:0102343 3-hydroxy-arachidoyl-CoA dehydratase activity
GO:0102344 3-hydroxy-behenoyl-CoA dehydratase activity
GO:0102345 3-hydroxy-lignoceroyl-CoA dehydratase activity

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR007482 Protein-tyrosine phosphatase-like, PTPLAFamilyFamily

Diseases

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Disease IDSourceNameDescription
255310 OMIMMyopathy, congenital, with fiber-type disproportion (CFTD)A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. The gene represented in this entry may be involved in disease pathogenesis. A loss-of-function mutation that segregates with the disease was found in four members of a consanguineous family and not identified in unaffected controls. The mutation affects the expression of the mRNA and the produced protein is catalytically inactive.

Interactions

7 interactions