| Type | Description |
|---|---|
| Definition | 3-hydroxyacyl-CoA dehydratase 1 |
| Date | Results | Publications |
|---|---|---|
| 2017-10-11 11:13:00 | Labrador retrievers carrying two copies of a unique canine HACD1 loss-of-function allele that recently disseminated worldwide, are all affected by a congenital myopathy, confirming its role in muscle development. | 23071563 |
| 2017-10-11 09:24:00 | Longitudinal analyses in myopathic Labrador retrievers reveal several membrane-associated defects, including ultrastructural triads dysmorphogenesis and mitochondrial mislocalization in Labrador retrievers with deficiencies in the canine HACD1 gene. | 27939133 |
| 2017-10-11 09:20:00 | A loss-of-function mutation in the canine ortholog of HACD1 that was identified by genetic mapping in a French pedigree of Labrador retrievers causes a congenital myopathy named centronuclear myopathy (CNM) in Labrador retrievers. | 15829503 |
| 2017-09-30 10:43:00 | Mutations in HACD1 can result in myopathies in humans; knockout mice lacking Hacd1 develop myopathic phenotypes. Data (including data from studies using knockout mice and cultured cells from knockout mice) suggest that HACD1 and HACD2 exhibit overlapping substrate specificities and thus appear to represent redundant activities in skeletal muscle. | 28784662 |
| 2014-07-12 11:36:00 | These data indicate that HACD1 is necessary for muscle function. | 23933735 |
| Type | IDs |
|---|---|
| Synonymous | CAP, PTPLA |
| Gene |
UniProtKB-ID:
HACD1_HUMAN
UniprotKB:
B0YJ81
UniParc:
UPI000022561B,
UPI000036666A
EMBL:
AC069542,
CR608689,
AF114494,
AF266848,
BC010353,
AF266850,
AF266849,
AF266851,
EF445016,
AF266852,
AY455942
Ensembl:
ENSG00000165996
KO:
hsa:9200
|
| Nucleutide sequences |
EMBL-CDS:
AAR22554.1,
AAF21976.1,
AAG10713.1,
ACA06061.1,
ACA06059.1,
ACA06060.1,
AAH10353.1
Ensembl_TRS:
ENST00000361271
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000355308
RefSeq:
NP_055056.3,
XP_005252698.1
|
| Others |
UniRef100:
UniRef100_B0YJ81
UniRef90:
UniRef90_B0YJ81
UniRef50:
UniRef50_B0YJ81
UniGene:
Hs.114062
CCDS:
CCDS7121.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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