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Entry version 141 (08 May 2019)
Sequence version 2 (27 Jun 2006)
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Protein

Prolyl 3-hydroxylase 1

Gene

P3H1

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

Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts.1 Publication

<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 bindingi587Iron1
Metal bindingi589Iron1
Metal bindingi659Iron1
<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 sitei669By similarity1

<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

GO - Biological processi

<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

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BioCyci
MetaCyc:HS04122-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.14.11.28 2681
1.14.11.7 2681

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:
Prolyl 3-hydroxylase 1Imported (EC:1.14.11.7)
Alternative name(s):
Growth suppressor 11 Publication
Leucine- and proline-enriched proteoglycan 1By similarity
Short name:
Leprecan-1By similarity
<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:P3H1Imported
Synonyms:GROS11 Publication, LEPRE1By similarity
ORF Names:PSEC0109
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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:19316 P3H1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610339 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q32P28

<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, Extracellular matrix, Secreted

<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

Osteogenesis imperfecta 8 (OI8)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. A splice site mutation leading to the absence of isoform 1 has been reported in 2 OI8 patients. Isoform 1 is the only form predicted to be located in the endoplasmic reticulum, which the appropriate location for the catalysis of collagen hydroxylation. These patients show indeed severely reduced COL1A1 hydroxylation (PubMed:19088120).1 Publication
Disease descriptionA form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI8 is characterized by disproportionate short stature, severe osteoporosis, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest.
Related information in OMIM

Keywords - Diseasei

Dwarfism, Osteogenesis imperfecta

Organism-specific databases

DisGeNET

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DisGeNETi
64175

MalaCards human disease database

More...
MalaCardsi
P3H1
MIMi610915 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000117385

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

More...
Orphaneti
216804 Osteogenesis imperfecta type 2
216812 Osteogenesis imperfecta type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134930599

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00172 L-Proline
DB00139 Succinic acid
DB00126 Vitamin C

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
P3H1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
109892809

<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 – 22Sequence analysisAdd BLAST22
<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_000024035223 – 736Prolyl 3-hydroxylase 1Add BLAST714

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>Glycosylationi316N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi467N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi540N-linked (GlcNAc...) asparagine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

O-glycosylated; chondroitin sulfate.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q32P28

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q32P28

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q32P28

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

More...
PaxDbi
Q32P28

PeptideAtlas

More...
PeptideAtlasi
Q32P28

PRoteomics IDEntifications database

More...
PRIDEi
Q32P28

ProteomicsDB human proteome resource

More...
ProteomicsDBi
61620
61621 [Q32P28-2]
61622 [Q32P28-3]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1639

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q32P28

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

More...
PhosphoSitePlusi
Q32P28

<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
ENSG00000117385 Expressed in 191 organ(s), highest expression level in adenohypophysis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q32P28 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q32P28 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA012113
HPA016980

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122098, 109 interactors

Protein interaction database and analysis system

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IntActi
Q32P28, 29 interactors

Molecular INTeraction database

More...
MINTi
Q32P28

STRING: functional protein association networks

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STRINGi
9606.ENSP00000236040

<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 ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati35 – 68TPR 1Add BLAST34
Repeati143 – 176TPR 2Add BLAST34
Repeati205 – 238TPR 3Add BLAST34
Repeati301 – 334TPR 4Add BLAST34
<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>Domaini564 – 678Fe2OG dioxygenasePROSITE-ProRule annotationAdd BLAST115

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili401 – 439Sequence analysisAdd BLAST39

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi733 – 736Prevents secretion from ERPROSITE-ProRule annotation4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the leprecan family.Curated

Keywords - Domaini

Coiled coil, Repeat, Signal, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4459 Eukaryota
ENOG410XPXF LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158725

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q32P28

KEGG Orthology (KO)

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KOi
K08134

Identification of Orthologs from Complete Genome Data

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OMAi
YMEYSAD

Database of Orthologous Groups

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OrthoDBi
660619at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q32P28

TreeFam database of animal gene trees

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TreeFami
TF320837

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR005123 Oxoglu/Fe-dep_dioxygenase
IPR039575 P3H
IPR039837 P3H1
IPR006620 Pro_4_hyd_alph
IPR011990 TPR-like_helical_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR14049 PTHR14049, 1 hit
PTHR14049:SF5 PTHR14049:SF5, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13640 2OG-FeII_Oxy_3, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00702 P4Hc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48452 SSF48452, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00014 ER_TARGET, 1 hit
PS51471 FE2OG_OXY, 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 (4+)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 4 <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 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q32P28-1) [UniParc]FASTAAdd to basket
Also known as: GROS1-L, LEPREa, P3H1a

This isoform has been chosen as the 'canonical' 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
MAVRALKLLT TLLAVVAAAS QAEVESEAGW GMVTPDLLFA EGTAAYARGD
60 70 80 90 100
WPGVVLSMER ALRSRAALRA LRLRCRTQCA ADFPWELDPD WSPSPAQASG
110 120 130 140 150
AAALRDLSFF GGLLRRAACL RRCLGPPAAH SLSEEMELEF RKRSPYNYLQ
160 170 180 190 200
VAYFKINKLE KAVAAAHTFF VGNPEHMEMQ QNLDYYQTMS GVKEADFKDL
210 220 230 240 250
ETQPHMQEFR LGVRLYSEEQ PQEAVPHLEA ALQEYFVAYE ECRALCEGPY
260 270 280 290 300
DYDGYNYLEY NADLFQAITD HYIQVLNCKQ NCVTELASHP SREKPFEDFL
310 320 330 340 350
PSHYNYLQFA YYNIGNYTQA VECAKTYLLF FPNDEVMNQN LAYYAAMLGE
360 370 380 390 400
EHTRSIGPRE SAKEYRQRSL LEKELLFFAY DVFGIPFVDP DSWTPEEVIP
410 420 430 440 450
KRLQEKQKSE RETAVRISQE IGNLMKEIET LVEEKTKESL DVSRLTREGG
460 470 480 490 500
PLLYEGISLT MNSKLLNGSQ RVVMDGVISD HECQELQRLT NVAATSGDGY
510 520 530 540 550
RGQTSPHTPN EKFYGVTVFK ALKLGQEGKV PLQSAHLYYN VTEKVRRIME
560 570 580 590 600
SYFRLDTPLY FSYSHLVCRT AIEEVQAERK DDSHPVHVDN CILNAETLVC
610 620 630 640 650
VKEPPAYTFR DYSAILYLNG DFDGGNFYFT ELDAKTVTAE VQPQCGRAVG
660 670 680 690 700
FSSGTENPHG VKAVTRGQRC AIALWFTLDP RHSERDRVQA DDLVKMLFSP
710 720 730
EEMDLSQEQP LDAQQGPPEP AQESLSGSES KPKDEL
Length:736
Mass (Da):83,394
Last modified:June 27, 2006 - 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:iEA1909828FAE685E
GO
Isoform 2 (identifier: Q32P28-2) [UniParc]FASTAAdd to basket
Also known as: GROS1-S

The sequence of this isoform differs from the canonical sequence as follows:
     361-363: SAK → QGT
     364-736: Missing.

Show »
Length:363
Mass (Da):41,215
Checksum:i5B1837D6923D9C4A
GO
Isoform 3 (identifier: Q32P28-3) [UniParc]FASTAAdd to basket
Also known as: LEPREc

The sequence of this isoform differs from the canonical sequence as follows:
     686-736: DRVQADDLVK...GSESKPKDEL → VRAARAGESS...NLPCPLGSSS

Note: No experimental confirmation available.
Show »
Length:804
Mass (Da):90,616
Checksum:iDF635702F430A113
GO
Isoform 4 (identifier: Q32P28-4) [UniParc]FASTAAdd to basket
Also known as: LEPREb, P3H1b

The sequence of this isoform differs from the canonical sequence as follows:
     686-736: DRVQADDLVKMLFSPEEMDLSQEQPLDAQQGPPEPAQESLSGSESKPKDEL → VRAARAGQGAGR

Show »
Length:697
Mass (Da):78,922
Checksum:iDF642E0B7E26E7F3
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
H7C2W6H7C2W6_HUMAN
Prolyl 3-hydroxylase 1
P3H1
222Annotation 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>
E2QRI1E2QRI1_HUMAN
Prolyl 3-hydroxylase 1
P3H1
207Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH15309 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB15256 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti102A → G in AAG31018 (PubMed:10951563).Curated1
Sequence conflicti102A → G in AAG31019 (PubMed:10951563).Curated1
Sequence conflicti321V → G in AAG31018 (PubMed:10951563).Curated1
Sequence conflicti321V → G in AAG31019 (PubMed:10951563).Curated1
Sequence conflicti396E → G in BAB55264 (PubMed:14702039).Curated1
Sequence conflicti469S → Y in AAG31019 (PubMed:10951563).Curated1
Sequence conflicti605P → L in BAB15256 (PubMed:14702039).Curated1
Sequence conflicti711L → M in BAB55291 (PubMed:14702039).Curated1

Natural variant

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_033252349G → R. Corresponds to variant dbSNP:rs6700677EnsemblClinVar.1
Natural variantiVAR_033253506P → R. Corresponds to variant dbSNP:rs3738501Ensembl.1
Natural variantiVAR_033254549M → I. Corresponds to variant dbSNP:rs11581921EnsemblClinVar.1
Natural variantiVAR_050442644Q → K. Corresponds to variant dbSNP:rs3738497EnsemblClinVar.1

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_019346361 – 363SAK → QGT in isoform 2. 1 Publication3
Alternative sequenceiVSP_019347364 – 736Missing in isoform 2. 1 PublicationAdd BLAST373
Alternative sequenceiVSP_019348686 – 736DRVQA…PKDEL → VRAARAGESSWCCGDPFPER PWFAFLFPKSHCQWLRHERS TWDTSSNALSLWSHCLVLPG PAVNGIQVGKEVKTGSDAEF LVPSLGPTSAVLFQRVGPAG KEMSLGPLRNLPCPLGSSS in isoform 3. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_054864686 – 736DRVQA…PKDEL → VRAARAGQGAGR in isoform 4. 1 PublicationAdd BLAST51

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF097431 mRNA Translation: AAG31018.1
AF097432 mRNA Translation: AAG31019.1
AK025841 mRNA Translation: BAB15256.1 Different initiation.
AK027648 mRNA Translation: BAB55264.1
AK027680 mRNA Translation: BAB55291.1
AK027697 mRNA Translation: BAB55305.1
AK075418 mRNA Translation: BAC11608.1
BC015309 mRNA Translation: AAH15309.2 Different initiation.
BC108311 mRNA Translation: AAI08312.1
BT007039 mRNA Translation: AAP35688.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS472.2 [Q32P28-1]
CCDS53307.1 [Q32P28-4]
CCDS57986.1 [Q32P28-3]

NCBI Reference Sequences

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RefSeqi
NP_001139761.1, NM_001146289.1 [Q32P28-4]
NP_001230175.1, NM_001243246.1 [Q32P28-3]
NP_071751.3, NM_022356.3 [Q32P28-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000236040; ENSP00000236040; ENSG00000117385 [Q32P28-3]
ENST00000296388; ENSP00000296388; ENSG00000117385 [Q32P28-1]
ENST00000397054; ENSP00000380245; ENSG00000117385 [Q32P28-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64175

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:64175

UCSC genome browser

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UCSCi
uc001chv.3 human [Q32P28-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Osteogenesis imperfecta variant database

Prolyl 3-hydroxylase 1 (LEPRE1)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF097431 mRNA Translation: AAG31018.1
AF097432 mRNA Translation: AAG31019.1
AK025841 mRNA Translation: BAB15256.1 Different initiation.
AK027648 mRNA Translation: BAB55264.1
AK027680 mRNA Translation: BAB55291.1
AK027697 mRNA Translation: BAB55305.1
AK075418 mRNA Translation: BAC11608.1
BC015309 mRNA Translation: AAH15309.2 Different initiation.
BC108311 mRNA Translation: AAI08312.1
BT007039 mRNA Translation: AAP35688.1
CCDSiCCDS472.2 [Q32P28-1]
CCDS53307.1 [Q32P28-4]
CCDS57986.1 [Q32P28-3]
RefSeqiNP_001139761.1, NM_001146289.1 [Q32P28-4]
NP_001230175.1, NM_001243246.1 [Q32P28-3]
NP_071751.3, NM_022356.3 [Q32P28-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi122098, 109 interactors
IntActiQ32P28, 29 interactors
MINTiQ32P28
STRINGi9606.ENSP00000236040

Chemistry databases

DrugBankiDB00172 L-Proline
DB00139 Succinic acid
DB00126 Vitamin C

PTM databases

GlyConnecti1639
iPTMnetiQ32P28
PhosphoSitePlusiQ32P28

Polymorphism and mutation databases

BioMutaiP3H1
DMDMi109892809

Proteomic databases

EPDiQ32P28
jPOSTiQ32P28
MaxQBiQ32P28
PaxDbiQ32P28
PeptideAtlasiQ32P28
PRIDEiQ32P28
ProteomicsDBi61620
61621 [Q32P28-2]
61622 [Q32P28-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
64175
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000236040; ENSP00000236040; ENSG00000117385 [Q32P28-3]
ENST00000296388; ENSP00000296388; ENSG00000117385 [Q32P28-1]
ENST00000397054; ENSP00000380245; ENSG00000117385 [Q32P28-4]
GeneIDi64175
KEGGihsa:64175
UCSCiuc001chv.3 human [Q32P28-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
64175
DisGeNETi64175

GeneCards: human genes, protein and diseases

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GeneCardsi
P3H1
HGNCiHGNC:19316 P3H1
HPAiHPA012113
HPA016980
MalaCardsiP3H1
MIMi610339 gene
610915 phenotype
neXtProtiNX_Q32P28
OpenTargetsiENSG00000117385
Orphaneti216804 Osteogenesis imperfecta type 2
216812 Osteogenesis imperfecta type 3
PharmGKBiPA134930599

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4459 Eukaryota
ENOG410XPXF LUCA
GeneTreeiENSGT00940000158725
InParanoidiQ32P28
KOiK08134
OMAiYMEYSAD
OrthoDBi660619at2759
PhylomeDBiQ32P28
TreeFamiTF320837

Enzyme and pathway databases

BioCyciMetaCyc:HS04122-MONOMER
BRENDAi1.14.11.28 2681
1.14.11.7 2681
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

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ChiTaRSi
P3H1 human

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

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GenomeRNAii
64175

Protein Ontology

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PROi
PR:Q32P28

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000117385 Expressed in 191 organ(s), highest expression level in adenohypophysis
ExpressionAtlasiQ32P28 baseline and differential
GenevisibleiQ32P28 HS

Family and domain databases

InterProiView protein in InterPro
IPR005123 Oxoglu/Fe-dep_dioxygenase
IPR039575 P3H
IPR039837 P3H1
IPR006620 Pro_4_hyd_alph
IPR011990 TPR-like_helical_dom_sf
PANTHERiPTHR14049 PTHR14049, 1 hit
PTHR14049:SF5 PTHR14049:SF5, 1 hit
PfamiView protein in Pfam
PF13640 2OG-FeII_Oxy_3, 1 hit
SMARTiView protein in SMART
SM00702 P4Hc, 1 hit
SUPFAMiSSF48452 SSF48452, 1 hit
PROSITEiView protein in PROSITE
PS00014 ER_TARGET, 1 hit
PS51471 FE2OG_OXY, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiP3H1_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: Q32P28
Secondary accession number(s): Q7KZR4
, Q96BR8, Q96SK8, Q96SL5, Q96SN3, Q9H6K3, Q9HC86, Q9HC87
<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: June 27, 2006
Last sequence update: June 27, 2006
Last modified: May 8, 2019
This is version 141 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, Reference proteome

Documents

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