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P3H1 prolyl 3-hydroxylase 1 [ Homo sapiens (human) ]

Gene ID: 64175, updated on 5-Jul-2015
Official Symbol
P3H1provided by HGNC
Official Full Name
prolyl 3-hydroxylase 1provided by HGNC
Primary source
HGNC:HGNC:19316
See related
Ensembl:ENSG00000117385; HPRD:11227; MIM:610339; Vega:OTTHUMG00000007525
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OI8; GROS1; LEPRE1
Summary
This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
Orthologs
See P3H1 in Epigenomics, MapViewer
Location:
1p34.1
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (42746335..42767084, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43212006..43232755, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Y box binding protein 1 Neighboring gene claudin 19 Neighboring gene chromosome 1 open reading frame 50 Neighboring gene uncharacterized LOC105378683

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
    Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC117314

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-ascorbic acid binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to collagen binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
procollagen-proline 3-dioxygenase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein complex binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
bone development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell growth IEA
Inferred from Electronic Annotation
more info
 
chaperone-mediated protein folding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
collagen fibril organization IEA
Inferred from Electronic Annotation
more info
 
collagen metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
negative regulation of cell proliferation NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of post-translational protein modification IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
peptidyl-proline hydroxylation IEA
Inferred from Electronic Annotation
more info
 
peptidyl-proline hydroxylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein folding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein hydroxylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of ossification IEA
Inferred from Electronic Annotation
more info
 
regulation of protein secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
macromolecular complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
proteinaceous extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
prolyl 3-hydroxylase 1
Names
growth suppressor 1
leprecan
leucine proline-enriched proteoglycan (leprecan) 1
leucine- and proline-enriched proteoglycan 1
procollagen-proline 3-dioxygenase
NP_001139761.1
NP_001230175.1
NP_071751.3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008123.1 RefSeqGene

    Range
    5001..25750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_5

mRNA and Protein(s)

  1. NM_001146289.1NP_001139761.1  prolyl 3-hydroxylase 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001139761.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 3. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 3, and isoform 2 is a likely cause of a recessive form of osteogenesis imperfecta (OI).
    Source sequence(s)
    BC108311, BE675748, DC404420, R67284
    Consensus CDS
    CCDS53307.1
    UniProtKB/Swiss-Prot
    Q32P28
    Related
    ENSP00000380245, ENST00000397054
    Conserved Domains (1) summary
    smart00702
    Location:479677
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  2. NM_001243246.1NP_001230175.1  prolyl 3-hydroxylase 1 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AC098484, AK027648, AK027697, DC404420, R67284
    Consensus CDS
    CCDS57986.1
    UniProtKB/Swiss-Prot
    Q32P28
    Related
    ENSP00000236040, OTTHUMP00000008736, ENST00000236040, OTTHUMT00000019791
    Conserved Domains (1) summary
    smart00702
    Location:479677
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  3. NM_022356.3NP_071751.3  prolyl 3-hydroxylase 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_071751.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 3' UTR and coding sequence compared to variant 3. The resulting isoform (1) has a shorter and distinct C-terminus compared to isoform 3.
    Source sequence(s)
    AC098484, AK027697, R67284
    Consensus CDS
    CCDS472.2
    UniProtKB/Swiss-Prot
    Q32P28
    Related
    ENSP00000296388, OTTHUMP00000008735, ENST00000296388, OTTHUMT00000019790
    Conserved Domains (1) summary
    smart00702
    Location:479677
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    42746335..42767084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541949.1XP_011540251.1  

    Conserved Domains (1) summary
    smart00702
    Location:153351
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  2. XM_011541947.1XP_011540249.1  

    See identical proteins and their annotated locations for XP_011540249.1

    Conserved Domains (1) summary
    smart00702
    Location:154352
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  3. XM_005271110.2XP_005271167.1  

    Conserved Domains (1) summary
    smart00702
    Location:143341
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  4. XM_011541948.1XP_011540250.1  

    See identical proteins and their annotated locations for XP_011540250.1

    Conserved Domains (1) summary
    smart00702
    Location:154352
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

RNA

  1. XR_946739.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    43328805..43349560
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)