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

Gene ID: 64175, updated on 23-Nov-2021

Summary

Official Symbol
P3H1provided by HGNC
Official Full Name
prolyl 3-hydroxylase 1provided by HGNC
Primary source
HGNC:HGNC:19316
See related
Ensembl:ENSG00000117385 MIM:610339
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]
Expression
Ubiquitous expression in placenta (RPKM 18.9), testis (RPKM 10.8) and 24 other tissues See more
Orthologs
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Genomic context

See P3H1 in Genome Data Viewer
Location:
1p34.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (42746374..42767028, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43212045..43232699, 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 TMEM269 divergent transcript Neighboring gene uncharacterized LOC107984946 Neighboring gene transmembrane protein 269

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117314

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 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 
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
 
enables molecular_function ND
No biological Data available
more info
 
enables procollagen-proline 3-dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables procollagen-proline 3-dioxygenase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables protein binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
involved_in bone development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chaperone-mediated protein folding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in collagen metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in collagen metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in negative regulation of cell population proliferation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in negative regulation of post-translational protein modification IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in peptidyl-proline hydroxylation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein folding IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein hydroxylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of protein secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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
XP_005271167.1
XP_011540250.1
XP_016857540.1
XP_016857541.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001146289.2NP_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
    Consensus CDS
    CCDS53307.1
    UniProtKB/Swiss-Prot
    Q32P28
    Related
    ENSP00000380245.3, ENST00000397054.7
    Conserved Domains (1) summary
    smart00702
    Location:479677
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  2. NM_001243246.2NP_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
    Consensus CDS
    CCDS57986.1
    UniProtKB/Swiss-Prot
    Q32P28
    Related
    ENSP00000236040.4, ENST00000236040.8
    Conserved Domains (1) summary
    smart00702
    Location:479677
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  3. NM_022356.4NP_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
    ENSP00000296388.5, ENST00000296388.10
    Conserved Domains (1) summary
    smart00702
    Location:479677
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    42746374..42767028 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002051.2XP_016857540.1  prolyl 3-hydroxylase 1 isoform X1

    Related
    ENST00000495874.5
    Conserved Domains (1) summary
    smart00702
    Location:154352
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  2. XM_017002052.2XP_016857541.1  prolyl 3-hydroxylase 1 isoform X2

    Conserved Domains (1) summary
    smart00702
    Location:153351
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  3. XM_005271110.2XP_005271167.1  prolyl 3-hydroxylase 1 isoform X3

    Conserved Domains (1) summary
    smart00702
    Location:143341
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  4. XM_011541948.1XP_011540250.1  prolyl 3-hydroxylase 1 isoform X1

    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_946739.2 RNA Sequence

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