PLOD1
entrez
5351
canonical
uniprot
Q02809
canonical
ensembl
ENSG00000083444
resolver
ensp
ENSP00000196061
resolver
ensp
ENSP00000524078
resolver
genesymbol
PLOD1
resolver
genesymbol_syn
LLH
resolver
genesymbol_syn
PLOD
resolver
hgnc
HGNC:9081
resolver
uniprot
B4DR87
resolver
uniprot
Q96AV9
resolver
uniprot
Q9H132
resolver
uniprot_entry
PLOD1_HUMAN
resolver
uniprot_sec
B4DR87
resolver
uniprot_sec
Q96AV9
resolver
uniprot_sec
Q9H132
resolver
amino_acid_sequence
MRPLLLLALLGWLLLAEAKGDAKPEDNLLVLTVATKETEGFRRFKRSAQFFNYKIQALGLGEDWNVEKGTSAGGGQKVRLLKKALEKHADKEDLVILFADSYDVLFASGPRELLKKFRQARSQVVFSAEELIYPDRRLETKYPVVSDGKRFLGSGGFIGYAPNLSKLVAEWEGQDSDSDQLFYTKIFLDPEKREQINITLDHRCRIFQNLDGALDEVVLKFEMGHVRARNLAYDTLPVLIHGNGPTKLQLNYLGNYIPRFWTFETGCTVCDEGLRSLKGIGDEALPTVLVGVFIEQPTPFVSLFFQRLLRLHYPQKHMRLFIHNHEQHHKAQVEEFLAQHGSEYQSVKLVGPEVRMANADARNMGADLCRQDRSCTYYFSVDADVALTEPNSLRLLIQQNKNVIAPLMTRHGRLWSNFWGALSADGYYARSEDYVDIVQGRRVGVWNVPYISNIYLIKGSALRGELQSSDLFHHSKLDPDMAFCANIRQQDVFMFLTNRHTLGHLLSLDSYRTTHLHNDLWEVFSNPEDWKEKYIHQNYTKALAGKLVETPCPDVYWFPIFTEVACDELVEEMEHFGQWSLGNNKDNRIQGGYENVPTIDIHMNQIGFEREWHKFLLEYIAPMTEKLYPGYYTRAQFDLAFVVRYKPDEQPSLMPHHDASTFTINIALNRVGVDYEGGGCRFLRYNCSIRAPRKGWTLMHPGRLTHYHEGLPTTRGTRYIAVSFVDP
uniprot
proteins
disease_involvement
DISEASE: Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) [MIM:225400]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL1 is an autosomal recessive form characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe. {ECO:0000269|PubMed:10686424, ECO:0000269|PubMed:15666309, ECO:0000269|PubMed:15854030, ECO:0000269|PubMed:15979919, ECO:0000269|PubMed:8163671, ECO:0000269|PubMed:9617436}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.11.4
uniprot
proteins
function
FUNCTION: Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils (By similarity). Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens (PubMed:10686424, PubMed:15854030, PubMed:8621606). These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (Probable). {ECO:0000250|UniProtKB:Q9R0E2, ECO:0000269|PubMed:10686424, ECO:0000269|PubMed:15854030, ECO:0000269|PubMed:8621606, ECO:0000305}.
uniprot
proteins
mass_dalton
83550
uniprot
proteins
mutagenesis
MUTAGEN 369; /note="C->A: Loss of activity."; /evidence="ECO:0000269|PubMed:10686424"; MUTAGEN 656; /note="H->S: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:8621606"; MUTAGEN 658; /note="D->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:8621606"; MUTAGEN 706; /note="H->S: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:8621606"; MUTAGEN 708; /note="H->S: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:8621606
uniprot
proteins
pubmed
10686424
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15666309
uniprot
proteins
pubmed
1577494
uniprot
proteins
pubmed
15854030
uniprot
proteins
pubmed
15979919
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7713497
uniprot
proteins
pubmed
8163671
uniprot
proteins
pubmed
8621606
uniprot
proteins
pubmed
9617436
uniprot
proteins
sequence_length
727
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side.
uniprot
proteins