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FLASH GENE

Symbol

HACD1

contributors: mct - updated : 04-02-2020

HGNC name	3-hydroxyacyl-CoA dehydratase 1
HGNC id	9639

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	28.34 kb     7 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014241 7 - 2234 NP_055056 - 288 - 2017 28784662 PTPLA-CAP - - 1435 - 140 expression was limited to cementum cells 2012 22067203 N-terminal 125 amino acids are identical to those of HACD1 results from a read-through of the HACD1 exon 2 splice donor site, truncating after the second putative transmembrane domain

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive liver           mouth tooth cement     Homo sapiens Reproductive male system testis       Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	in the developing heart, liver, lung, skeletal muscle

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	leucine and valine rich domains
	a N terminal nuclear localization signal (NLS)
	a catalytic motif with a proline instead of an arginine

HOMOLOGY

interspecies

homolog to murine Ptpla

Homologene

FAMILY

CATEGORY

enzyme , signaling

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	playing a role in differentiation and maintenanec of tissue types (myogenesis and cardiogenesis)
	HACD1 is necessary for muscle function
	is very effective at inducing bone repair and healing
	involved in the elongation of the very long chain fatty acids, in muscle fibre formation
	HACD1 promotes myoblast fusion during muscle development and regeneration
	is a key regulator of a lipid-dependent muscle fibre growth mechanism
	has a role in early myogenesis, and in maintaining skeletal muscle membrane systems
	HACD1 and HACD2 exhibit redundant activities in a wide range of fatty acids (FAs) elongation pathways, including those for saturated to polyunsaturated FAs, with HACD2 being the major 3-hydroxyacyl-CoA dehydratase

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

regulates myoblast proliferation and differentiation through MYOG and the cell cycling signaling pathway

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CNM7

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS