P3H1 (prolyl 3-hydroxylase 1)

2003-02-01  

Identity

HGNC
P3H1
LOCATION
1p34.2
LOCUSID
64175
ALIAS
GROS1,LEPRE1,OI8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64175
MIM: 610339
HGNC: 19316
Ensembl: ENSG00000117385

Variants:

dbSNP: 64175
ClinVar: 64175
TCGA: ENSG00000117385
COSMIC: P3H1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117385ENST00000236040Q32P28
ENSG00000117385ENST00000296388Q32P28
ENSG00000117385ENST00000372526E2QRI1
ENSG00000117385ENST00000397054Q32P28
ENSG00000117385ENST00000431412H7C2W6

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
185669672008CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.80
198625572010Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.39
190881202009Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.32
189969192009Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.27
198464652010Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.22
216673572012The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.19
222819392012A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.16
226158172012A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.9
209460182011Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.6
273831152016Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.6

Citation

Dessen P

P3H1 (prolyl 3-hydroxylase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41140/p3h1