Property Summary

NCBI Gene PubMed Count 37
PubMed Score 121.45
PubTator Score 142.09

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
glioblastoma multiforme 1.200 8.3e-19
tuberculosis 1.900 6.4e-09
non-small cell lung cancer 1.166 1.8e-14
diabetes mellitus -1.200 2.8e-02
subependymal giant cell astrocytoma 1.137 3.0e-02
ovarian cancer 1.100 2.7e-03

Gene RIF (13)

PMID Text
25277362 Deficiency of the enzyme lysyl hydroxylase 1 (LH1) due to mutations in PLOD1 results in underhydroxylation of collagen lysyl residues and, hence, in the abnormal formation of collagen cross-links.
23234877 Compared to slow progressing Alzheimer's disease, PLOD1 is upregulated in fast progressing Alzheimer's disease ;patients.
22190034 HIV-1 IN is identified to have a physical interaction with procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
22174317 HIV-1 IN is identified to have a physical interaction with procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
22001912 Data show that homozygous and compound heterozygous changes found in PLOD1 and SLC2A10 may confer autosomal recessive effects, and three MYH11, ACTA2 and COL3A1 heterozygous variants were considered as putative pathogenic gene alterations.
21527992 Common polymorphisms in four candidate genes (COL11A1, COL18A1, FBN1 and PLOD1) were unlikely to play important roles in the genetic susceptibility to high myopia.
20628624 Meta-analysis of gene-disease association. (HuGE Navigator)
19442614 The results suggest that PLOD1 at 1p36, individually or in different combinations, contribute to osteoporosis susceptibility in Chinese.
17390085 Observational study of gene-disease association. (HuGE Navigator)
16758144 Observational study of gene-disease association. (HuGE Navigator)
14565595 Observational study of gene-disease association. (HuGE Navigator)
12452796 Results indicate that a C-terminal 40 amino acid segment of lysyl hydroxylase confers endoplasmic reticulum residency in a KDEL-receptor-independent manner.
11956192 Characterization of three fragments that constitute the monomers of the human lysyl hydroxylase isoenzymes 1-3. The 30-kDa N-terminal fragment is not required for lysyl hydroxylase activity

AA Sequence

MRPLLLLALLGWLLLAEAKGDAKPEDNLLVLTVATKETEGFRRFKRSAQFFNYKIQALGLGEDWNVEKGT      1 - 70
SAGGGQKVRLLKKALEKHADKEDLVILFADSYDVLFASGPRELLKKFRQARSQVVFSAEELIYPDRRLET     71 - 140
KYPVVSDGKRFLGSGGFIGYAPNLSKLVAEWEGQDSDSDQLFYTKIFLDPEKREQINITLDHRCRIFQNL    141 - 210
DGALDEVVLKFEMGHVRARNLAYDTLPVLIHGNGPTKLQLNYLGNYIPRFWTFETGCTVCDEGLRSLKGI    211 - 280
GDEALPTVLVGVFIEQPTPFVSLFFQRLLRLHYPQKHMRLFIHNHEQHHKAQVEEFLAQHGSEYQSVKLV    281 - 350
GPEVRMANADARNMGADLCRQDRSCTYYFSVDADVALTEPNSLRLLIQQNKNVIAPLMTRHGRLWSNFWG    351 - 420
ALSADGYYARSEDYVDIVQGRRVGVWNVPYISNIYLIKGSALRGELQSSDLFHHSKLDPDMAFCANIRQQ    421 - 490
DVFMFLTNRHTLGHLLSLDSYRTTHLHNDLWEVFSNPEDWKEKYIHQNYTKALAGKLVETPCPDVYWFPI    491 - 560
FTEVACDELVEEMEHFGQWSLGNNKDNRIQGGYENVPTIDIHMNQIGFEREWHKFLLEYIAPMTEKLYPG    561 - 630
YYTRAQFDLAFVVRYKPDEQPSLMPHHDASTFTINIALNRVGVDYEGGGCRFLRYNCSIRAPRKGWTLMH    631 - 700
PGRLTHYHEGLPTTRGTRYIAVSFVDP                                               701 - 727
//

Text Mined References (42)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25277362 2015 Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23234877 2013 Gene expression profiling of peripheral blood leukocytes shows consistent longitudinal downregulation of TOMM40 and upregulation of KIR2DL5A, PLOD1, and SLC2A8 among fast progressors in early Alzheimer's disease.
22001912 2012 Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.
21527992 2011 A DNA pooling-based case-control study of myopia candidate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese population.
21269460 2011 Initial characterization of the human central proteome.
20628624 2010 Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
19442614 2009 Multiple osteoporosis susceptibility genes on chromosome 1p36 in Chinese.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
17390085 2007 Association of candidate gene polymorphisms with bone mineral density in community-dwelling Japanese women and men.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16758144 2006 Association of PLOD1 polymorphisms with bone mineral density in a population-based study of women from the UK.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15979919 Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).
15854030 2005 A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.
15666309 2005 Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15174142 2004 Modulation of gene expression by hypoxia in human umbilical cord vein endothelial cells: A transcriptomic and proteomic study.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14565595 2003 Association analysis of bone mineral density and single nucleotide polymorphisms in two candidate genes on chromosome 1p36.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12452796 2003 Retrieval-independent localization of lysyl hydroxylase in the endoplasmic reticulum via a peptide fold in its iron-binding domain.
11956192 2002 Characterization of three fragments that constitute the monomers of the human lysyl hydroxylase isoenzymes 1-3. The 30-kDa N-terminal fragment is not required for lysyl hydroxylase activity.
10748089 2000 A single C-terminal peptide segment mediates both membrane association and localization of lysyl hydroxylase in the endoplasmic reticulum.
10686424 2000 Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI.
9738467 1998 Identification of arginine-700 as the residue that binds the C-5 carboxyl group of 2-oxoglutarate in human lysyl hydroxylase 1.
9617436 1998 Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C).
8621606 1996 Site-directed mutagenesis of human lysyl hydroxylase expressed in insect cells. Identification of histidine residues and an aspartic acid residue critical for catalytic activity.
8449506 1993 A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings.
8163671 1994 A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.
7713497 1994 Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients.
6229534 1984 Characterization of collagen hydroxylysyl glycosyltransferases as mainly intramembranous microsomal enzymes.
5027136 1972 Crosslinking of collagen in a heritable disorder of connective tissue: Ehlers-Danlos syndrome.
1577494 1992 Cloning of human lysyl hydroxylase: complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3----p36.2.
1345174 1992 A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.
1335016 1992 Characterization of a partial cDNA for lysyl hydroxylase from human skin fibroblasts; lysyl hydroxylase mRNAs are regulated differently by minoxidil derivatives and hydralazine.
1184396 1975 Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin.
1148262 1975 Hydroxylation of lysyl residues in lysine-rich and arginine-rich histones by lysyl hydroxylase in vitro.
798297 1976 Microvascular procedures in reconstructive surgery.
194639 1977 Intracellular enzymes of collagen biosynthesis in human platelets.