P3H1

Protein identityUniProt · HPA

UniProt accession

Q32P28

Gene

P3H1

Ensembl

ENSG00000117385

Chromosome

1

Canonical length

736 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoli,Vesicles

Secretome location

Intracellular and membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

736 residues, UniProt reviewed canonical sequence.

>Q32P28|P3H1
     1  MAVRALKLLT TLLAVVAAAS QAEVESEAGW GMVTPDLLFA EGTAAYARGD WPGVVLSMER
    61  ALRSRAALRA LRLRCRTQCA ADFPWELDPD WSPSPAQASG AAALRDLSFF GGLLRRAACL
   121  RRCLGPPAAH SLSEEMELEF RKRSPYNYLQ VAYFKINKLE KAVAAAHTFF VGNPEHMEMQ
   181  QNLDYYQTMS GVKEADFKDL ETQPHMQEFR LGVRLYSEEQ PQEAVPHLEA ALQEYFVAYE
   241  ECRALCEGPY DYDGYNYLEY NADLFQAITD HYIQVLNCKQ NCVTELASHP SREKPFEDFL
   301  PSHYNYLQFA YYNIGNYTQA VECAKTYLLF FPNDEVMNQN LAYYAAMLGE EHTRSIGPRE
   361  SAKEYRQRSL LEKELLFFAY DVFGIPFVDP DSWTPEEVIP KRLQEKQKSE RETAVRISQE
   421  IGNLMKEIET LVEEKTKESL DVSRLTREGG PLLYEGISLT MNSKLLNGSQ RVVMDGVISD
   481  HECQELQRLT NVAATSGDGY RGQTSPHTPN EKFYGVTVFK ALKLGQEGKV PLQSAHLYYN
   541  VTEKVRRIME SYFRLDTPLY FSYSHLVCRT AIEEVQAERK DDSHPVHVDN CILNAETLVC
   601  VKEPPAYTFR DYSAILYLNG DFDGGNFYFT ELDAKTVTAE VQPQCGRAVG FSSGTENPHG
   661  VKAVTRGQRC AIALWFTLDP RHSERDRVQA DDLVKMLFSP EEMDLSQEQP LDAQQGPPEP
   721  AQESLSGSES KPKDEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against P3H1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

35 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about P3H1.

Disease | AllUniProt

Conditions P3H1 is implicated in, by any mechanism.

• Osteogenesis imperfecta 8 (OI8) MIM:610915

Disease | GeneticClinVar

139 pathogenic / likely-pathogenic of 1,008 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Osteogenesis imperfecta type 8
• Osteogenesis imperfecta
• P3H1-related disorder
• Osteogenesis imperfecta type III
• Osteogenesis Imperfecta, Recessive

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.23

gnomAD pLI

0

DepMap mean gene effect

-0.2

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• bone development
• collagen fibril organization
• collagen metabolic process
• negative regulation of cell growth
• negative regulation of cell population proliferation
• negative regulation of post-translational protein modification
• positive regulation of neuron projection development
• protein folding
• protein hydroxylation
• protein stabilization
• regulation of ossification
• regulation of protein secretion

Molecular functions

• iron ion binding
• L-ascorbic acid binding
• procollagen-proline 3-dioxygenase activity

Cellular components

• cytoplasm
• endoplasmic reticulum
• endoplasmic reticulum lumen
• extracellular exosome
• membrane
• nucleus
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Oxoglutarate/iron-dependent dioxygenase domain
• Prolyl 4-hydroxylase, alpha subunit
• Tetratricopeptide-like helical domain superfamily
• Prolyl 3-hydroxylase
• Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain
• Leprecan-like alpha-helical domain
• 2OG-Fe(II) oxygenase superfamily
• Leprecan family TPR-like repeat region

KeywordsUniProt

• Coiled coil
• Dioxygenase
• Dwarfism
• Endoplasmic reticulum
• Extracellular matrix
• Glycoprotein
• Iron
• Metal-binding
• Osteogenesis imperfecta
• Oxidoreductase
• Proteoglycan
• Repeat
• Secreted
• Signal
• TPR repeat
• Vitamin C

InteractionsUniProt · HPA

Protein binding partners of P3H1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CPSF6
• CRTAP