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UniProtKB - Q02809 (PLOD1_HUMAN)

Entry version 219 (13 Nov 2019)
Sequence version 2 (25 Oct 2005)
Previous versions | rss
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Protein

Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

Gene

PLOD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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:8621606, PubMed:10686424, PubMed:15854030). These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (Probable).By similarityCurated3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Protein has several cofactor binding sites:

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi656Iron1 Publication1
Metal bindingi658Iron1 Publication1
Metal bindingi708Iron1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei718Sequence analysis1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDioxygenase, Oxidoreductase
LigandIron, Metal-binding, Vitamin C

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS01440-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1650814 Collagen biosynthesis and modifying enzymes

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (EC:1.14.11.43 Publications)
Alternative name(s):
Lysyl hydroxylase 1
Short name:
LH1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PLOD1
Synonyms:LLH, PLOD
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:9081 PLOD1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		153454 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q02809

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009269367 – 371Missing in EDSKSCL1. 1 Publication5
Natural variantiVAR_023466446W → G in EDSKSCL1; loss of enzyme activity. 1 Publication1
Natural variantiVAR_006354532Missing in EDSKSCL1. 1 Publication1
Natural variantiVAR_006355612W → C in EDSKSCL1. 1 PublicationCorresponds to variant dbSNP:rs121913553EnsemblClinVar.1
Natural variantiVAR_023467667A → T in EDSKSCL1. 1 PublicationCorresponds to variant dbSNP:rs199730384Ensembl.1
Natural variantiVAR_006356678G → R in EDSKSCL1. 1 PublicationCorresponds to variant dbSNP:rs121913551EnsemblClinVar.1
Natural variantiVAR_023468706H → R in EDSKSCL1. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi369C → A: Loss of activity. 1 Publication1
Mutagenesisi656H → S: Loss of enzyme activity. 1 Publication1
Mutagenesisi658D → A: Loss of enzyme activity. 1 Publication1
Mutagenesisi706H → S: Loss of enzyme activity. 1 Publication1
Mutagenesisi708H → S: Loss of enzyme activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Ehlers-Danlos syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		5351

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		PLOD1

MalaCards human disease database

More...MalaCardsi		PLOD1
MIMi225400 phenotype

Open Targets

More...OpenTargetsi		ENSG00000083444

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33411

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q02809

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00126 Ascorbic acid
DB00139 Succinic acid

DrugCentral

More...DrugCentrali		Q02809

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PLOD1

Domain mapping of disease mutations (DMDM)

More...DMDMi		78099790

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 181 PublicationAdd BLAST18
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002467819 – 727Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1Add BLAST709

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi163N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi197N-linked (GlcNAc...) asparagineCurated1
Glycosylationi538N-linked (GlcNAc...) asparagineCurated1
Glycosylationi686N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-1500
CPTAC-2232
CPTAC-566
CPTAC-567

Encyclopedia of Proteome Dynamics

More...EPDi		Q02809

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q02809

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q02809

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q02809

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q02809

PeptideAtlas

More...PeptideAtlasi		Q02809

PRoteomics IDEntifications database

More...PRIDEi		Q02809

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		4934
58126 [Q02809-1]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1633

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q02809

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q02809

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q02809

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000083444 Expressed in 224 organ(s), highest expression level in heart left ventricle

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q02809 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q02809 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA049137
HPA055799

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (By similarity).

Identified in a complex with P3H3 and P3H4 (By similarity).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
P557952EBI-357174,EBI-352823

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		111366, 129 interactors

Protein interaction database and analysis system

More...IntActi		Q02809, 67 interactors

Molecular INTeraction database

More...MINTi		Q02809

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000196061

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q02809

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini636 – 727Fe2OG dioxygenasePROSITE-ProRule annotationAdd BLAST92

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1971 Eukaryota
ENOG410Y4QU LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182728

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231099

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q02809

KEGG Orthology (KO)

More...KOi		K00473

Identification of Orthologs from Complete Genome Data

More...OMAi		MAFCHNV

Database of Orthologous Groups

More...OrthoDBi		194164at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q02809

TreeFam database of animal gene trees

More...TreeFami		TF313826

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029044 Nucleotide-diphossugar_trans
IPR005123 Oxoglu/Fe-dep_dioxygenase
IPR006620 Pro_4_hyd_alph
IPR001006 Procol_lys_dOase

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03171 2OG-FeII_Oxy, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00702 P4Hc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53448 SSF53448, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51471 FE2OG_OXY, 1 hit
PS01325 LYS_HYDROXYLASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q02809-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRPLLLLALL GWLLLAEAKG DAKPEDNLLV LTVATKETEG FRRFKRSAQF 
        60         70         80         90        100
FNYKIQALGL GEDWNVEKGT SAGGGQKVRL LKKALEKHAD KEDLVILFAD 
       110        120        130        140        150
SYDVLFASGP RELLKKFRQA RSQVVFSAEE LIYPDRRLET KYPVVSDGKR 
       160        170        180        190        200
FLGSGGFIGY APNLSKLVAE WEGQDSDSDQ LFYTKIFLDP EKREQINITL 
       210        220        230        240        250
DHRCRIFQNL DGALDEVVLK FEMGHVRARN LAYDTLPVLI HGNGPTKLQL 
       260        270        280        290        300
NYLGNYIPRF WTFETGCTVC DEGLRSLKGI GDEALPTVLV GVFIEQPTPF 
       310        320        330        340        350
VSLFFQRLLR LHYPQKHMRL FIHNHEQHHK AQVEEFLAQH GSEYQSVKLV 
       360        370        380        390        400
GPEVRMANAD ARNMGADLCR QDRSCTYYFS VDADVALTEP NSLRLLIQQN 
       410        420        430        440        450
KNVIAPLMTR HGRLWSNFWG ALSADGYYAR SEDYVDIVQG RRVGVWNVPY 
       460        470        480        490        500
ISNIYLIKGS ALRGELQSSD LFHHSKLDPD MAFCANIRQQ DVFMFLTNRH 
       510        520        530        540        550
TLGHLLSLDS YRTTHLHNDL WEVFSNPEDW KEKYIHQNYT KALAGKLVET 
       560        570        580        590        600
PCPDVYWFPI FTEVACDELV EEMEHFGQWS LGNNKDNRIQ GGYENVPTID 
       610        620        630        640        650
IHMNQIGFER EWHKFLLEYI APMTEKLYPG YYTRAQFDLA FVVRYKPDEQ 
       660        670        680        690        700
PSLMPHHDAS TFTINIALNR VGVDYEGGGC RFLRYNCSIR APRKGWTLMH 
       710        720 
PGRLTHYHEG LPTTRGTRYI AVSFVDP
Length:727
Mass (Da):83,550
Last modified:October 25, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6C3E0C11B15D598C
GO
Isoform 2 (identifier: Q02809-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     25-25: E → EAPCCQEGLRAGGSGSLHLGRDFTVLAGARGSPSPSVSSIPRFWIPGS

Note: No experimental confirmation available.
Show »
Length:774
Mass (Da):88,273
Checksum:i27DBE64A45B2A163
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5JXB7Q5JXB7_HUMAN
Procollagen-lysine,2-oxoglutarate 5...
PLOD1
283Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5JXB8Q5JXB8_HUMAN
Procollagen-lysine,2-oxoglutarate 5...
PLOD1
225Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03275467E → D. Corresponds to variant dbSNP:rs7551068Ensembl.1
Natural variantiVAR_03275584A → T. Corresponds to variant dbSNP:rs34878020EnsemblClinVar.1
Natural variantiVAR_01422099A → T2 PublicationsCorresponds to variant dbSNP:rs7551175EnsemblClinVar.1
Natural variantiVAR_032756120A → S1 PublicationCorresponds to variant dbSNP:rs2273285EnsemblClinVar.1
Natural variantiVAR_035479123Q → H in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_009269367 – 371Missing in EDSKSCL1. 1 Publication5
Natural variantiVAR_023466446W → G in EDSKSCL1; loss of enzyme activity. 1 Publication1
Natural variantiVAR_006354532Missing in EDSKSCL1. 1 Publication1
Natural variantiVAR_006355612W → C in EDSKSCL1. 1 PublicationCorresponds to variant dbSNP:rs121913553EnsemblClinVar.1
Natural variantiVAR_023467667A → T in EDSKSCL1. 1 PublicationCorresponds to variant dbSNP:rs199730384Ensembl.1
Natural variantiVAR_006356678G → R in EDSKSCL1. 1 PublicationCorresponds to variant dbSNP:rs121913551EnsemblClinVar.1
Natural variantiVAR_023468706H → R in EDSKSCL1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05630025E → EAPCCQEGLRAGGSGSLHLG RDFTVLAGARGSPSPSVSSI PRFWIPGS in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
L06419 mRNA Translation: AAA60116.1
AF490527
, AF490514, AF490515, AF490516, AF490517, AF490518, AF490519, AF490520, AF490521, AF490522, AF490523, AF490524, AF490525, AF490526 Genomic DNA Translation: AAM12752.1
AK299150 mRNA Translation: BAG61199.1
AK316285 mRNA Translation: BAH14656.1
AL096840 Genomic DNA No translation available.
BC016657 mRNA Translation: AAH16657.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS142.1 [Q02809-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A38206

NCBI Reference Sequences

More...RefSeqi		NP_000293.2, NM_000302.3 [Q02809-1]
NP_001303249.1, NM_001316320.1 [Q02809-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000196061; ENSP00000196061; ENSG00000083444 [Q02809-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5351

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5351

UCSC genome browser

More...UCSCi		uc001atm.4 human [Q02809-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L06419 mRNA Translation: AAA60116.1
AF490527
, AF490514, AF490515, AF490516, AF490517, AF490518, AF490519, AF490520, AF490521, AF490522, AF490523, AF490524, AF490525, AF490526 Genomic DNA Translation: AAM12752.1
AK299150 mRNA Translation: BAG61199.1
AK316285 mRNA Translation: BAH14656.1
AL096840 Genomic DNA No translation available.
BC016657 mRNA Translation: AAH16657.1
CCDSiCCDS142.1 [Q02809-1]
PIRiA38206
RefSeqiNP_000293.2, NM_000302.3 [Q02809-1]
NP_001303249.1, NM_001316320.1 [Q02809-2]

3D structure databases

SMRiQ02809
ModBaseiSearch...

Protein-protein interaction databases

BioGridi111366, 129 interactors
IntActiQ02809, 67 interactors
MINTiQ02809
STRINGi9606.ENSP00000196061

Chemistry databases

DrugBankiDB00126 Ascorbic acid
DB00139 Succinic acid
DrugCentraliQ02809

PTM databases

GlyConnecti1633
iPTMnetiQ02809
PhosphoSitePlusiQ02809
SwissPalmiQ02809

Polymorphism and mutation databases

BioMutaiPLOD1
DMDMi78099790

Proteomic databases

CPTACiCPTAC-1500
CPTAC-2232
CPTAC-566
CPTAC-567
EPDiQ02809
jPOSTiQ02809
MassIVEiQ02809
MaxQBiQ02809
PaxDbiQ02809
PeptideAtlasiQ02809
PRIDEiQ02809
ProteomicsDBi4934
58126 [Q02809-1]

Genome annotation databases

EnsembliENST00000196061; ENSP00000196061; ENSG00000083444 [Q02809-1]
GeneIDi5351
KEGGihsa:5351
UCSCiuc001atm.4 human [Q02809-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5351
DisGeNETi5351

GeneCards: human genes, protein and diseases

More...GeneCardsi		PLOD1
GeneReviewsiPLOD1
HGNCiHGNC:9081 PLOD1
HPAiHPA049137
HPA055799
MalaCardsiPLOD1
MIMi153454 gene
225400 phenotype
neXtProtiNX_Q02809
OpenTargetsiENSG00000083444
Orphaneti1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
PharmGKBiPA33411

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1971 Eukaryota
ENOG410Y4QU LUCA
GeneTreeiENSGT00950000182728
HOGENOMiHOG000231099
InParanoidiQ02809
KOiK00473
OMAiMAFCHNV
OrthoDBi194164at2759
PhylomeDBiQ02809
TreeFamiTF313826

Enzyme and pathway databases

BioCyciMetaCyc:HS01440-MONOMER
ReactomeiR-HSA-1650814 Collagen biosynthesis and modifying enzymes

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PLOD1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		5351
PharosiQ02809

Protein Ontology

More...PROi		PR:Q02809

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000083444 Expressed in 224 organ(s), highest expression level in heart left ventricle
ExpressionAtlasiQ02809 baseline and differential
GenevisibleiQ02809 HS

Family and domain databases

InterProiView protein in InterPro
IPR029044 Nucleotide-diphossugar_trans
IPR005123 Oxoglu/Fe-dep_dioxygenase
IPR006620 Pro_4_hyd_alph
IPR001006 Procol_lys_dOase
PfamiView protein in Pfam
PF03171 2OG-FeII_Oxy, 1 hit
SMARTiView protein in SMART
SM00702 P4Hc, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit
PROSITEiView protein in PROSITE
PS51471 FE2OG_OXY, 1 hit
PS01325 LYS_HYDROXYLASE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPLOD1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q02809
Secondary accession number(s): B4DR87, Q96AV9, Q9H132
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: October 25, 2005
Last modified: November 13, 2019
This is version 219 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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