HACD1
entrez
9200
canonical
uniprot
B0YJ81
canonical
ensembl
ENSG00000165996
resolver
ensp
ENSP00000355308
resolver
ensp
ENSP00000580509
resolver
genesymbol
HACD1
resolver
genesymbol_syn
PTPLA
resolver
hgnc
HGNC:9639
resolver
uniprot
B0YJ80
resolver
uniprot
Q6JIC5
resolver
uniprot
Q96FW7
resolver
uniprot
Q9HB93
resolver
uniprot
Q9UHX2
resolver
uniprot_entry
HACD1_HUMAN
resolver
uniprot_sec
B0YJ80
resolver
uniprot_sec
Q6JIC5
resolver
uniprot_sec
Q96FW7
resolver
uniprot_sec
Q9HB93
resolver
uniprot_sec
Q9UHX2
resolver
amino_acid_sequence
MGRLTEAAAAGSGSRAAGWAGSPPTLLPLSPTSPRCAATMASSDEDGTNGGASEAGEDREAPGERRRLGVLATAWLTFYDIAMTAGWLVLAIAMVRFYMEKGTHRGLYKSIQKTLKFFQTFALLEIVHCLIGIVPTSVIVTGVQVSSRIFMVWLITHSIKPIQNEESVVLFLVAWTVTEITRYSFYTFSLLDHLPYFIKWARYNFFIILYPVGVAGELLTIYAALPHVKKTGMFSIRLPNKYNVSFDYYYFLLITMASYIPLFPQLYFHMLRQRRKVLHGEVIVEKDD
uniprot
proteins
disease_involvement
DISEASE: Congenital myopathy 11 (CMYO11) [MIM:619967]: An autosomal recessive skeletal muscle disorder characterized clinically by severe hypotonia apparent at birth, motor delay, and walking difficulties. The course of the disease is non-progressive, and affected individuals achieve independent ambulation and tend to show improvement of muscle weakness throughout childhood and early adulthood. {ECO:0000269|PubMed:23933735, ECO:0000269|PubMed:32426512, ECO:0000269|PubMed:33354762}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.2.1.134
uniprot
proteins
function
FUNCTION: [Isoform 1]: Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. {ECO:0000269|PubMed:18554506}.; FUNCTION: [Isoform 2]: In tooth development, may play a role in the recruitment and the differentiation of cells that contribute to cementum formation. May also bind hydroxyapatite and regulate its crystal nucleation to form cementum. {ECO:0000269|PubMed:22067203}.
uniprot
proteins
mass_dalton
32388
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid biosynthesis. {ECO:0000269|PubMed:18554506}.
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:23933735}.
uniprot
proteins
protein_family
Very long-chain fatty acids dehydratase HACD family
uniprot
proteins
pubmed
10644438
uniprot
proteins
pubmed
11054553
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18554506
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
22067203
uniprot
proteins
pubmed
23933735
uniprot
proteins
pubmed
25263524
uniprot
proteins
pubmed
32426512
uniprot
proteins
pubmed
33354762
uniprot
proteins
pubmed
38422897
uniprot
proteins
sequence_length
288
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18554506}; Multi-pass membrane protein {ECO:0000269|PubMed:18554506}.
uniprot
proteins
transmembrane_region
TRANSMEM 76..95; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 115..131; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 142..159; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 166..180; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 204..221; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 252..269; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins