P3h1 MGI Mouse Gene Detail - MGI:1888921

Symbol

P3h1
Name

prolyl 3-hydroxylase 1
Synonyms

2410024C15Rik, Gros1, Lepre1, Leprecan

Feature Type

protein coding gene
IDs

MGI:1888921
NCBI Gene: 56401
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr4:119090112-119106172 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 55.34 cM, cytoband D1
Mapping Data

4 experiments

SNPs within 2kb

151 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1888921	protein coding gene	Chr4:119090112-119106174 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028693	protein coding gene	Chr4:120416967-120433013 (+)
A/J	MGP_AJ_G0028653	protein coding gene	Chr4:115686411-115702482 (+)
AKR/J	MGP_AKRJ_G0028606	protein coding gene	Chr4:118196674-118212743 (+)
BALB/cJ	MGP_BALBcJ_G0028676	protein coding gene	Chr4:116303880-116320135 (+)
C3H/HeJ	MGP_C3HHeJ_G0028391	protein coding gene	Chr4:119762606-119778505 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029117	protein coding gene	Chr4:124986958-125003150 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026394	protein coding gene	Chr4:109788131-109803912 (+)
CAST/EiJ	MGP_CASTEiJ_G0027822	protein coding gene	Chr4:117084567-117101545 (+)
CBA/J	MGP_CBAJ_G0028358	protein coding gene	Chr4:128373511-128389429 (+)
DBA/2J	MGP_DBA2J_G0028505	protein coding gene	Chr4:116278434-116294509 (+)
FVB/NJ	MGP_FVBNJ_G0028471	protein coding gene	Chr4:114791799-114808003 (+)
LP/J	MGP_LPJ_G0028605	protein coding gene	Chr4:120534617-120550665 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028499	protein coding gene	Chr4:133237681-133256663 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029154	protein coding gene	Chr4:119271327-119287378 (+)
PWK/PhJ	MGP_PWKPhJ_G0027545	protein coding gene	Chr4:113199728-113215989 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027371	protein coding gene	Chr4:115693557-115709578 (+)
WSB/EiJ	MGP_WSBEiJ_G0027902	protein coding gene	Chr4:119274215-119290257 (+)

Human Ortholog

P3H1, prolyl 3-hydroxylase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

P3H1, prolyl 3-hydroxylase 1
Synonyms

GROS1, LEPRE1, OI8
Links

HGNC:19316

NCBI Gene ID: 64175

neXtProt AC: NX_Q32P28

UniProt: Q32P28
Chr Location

1p34.2; chr1:42746335-42767084 (-) GRCh38

MGI Vertebrate Homology

P3h1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: P3H1
Gene Tree

P3h1

Diseases

1 with P3h1 mouse models; 1 with human P3H1 associations

Human Disease

Mouse Models

osteogenesis imperfecta type 8

IDs

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

32 phenotypes from 3 alleles in 3 genetic backgrounds
5 images
23 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

16
Chemically induced (other)

2
Endonuclease-mediated

3
Gene trapped

4
Radiation induced

1
Targeted

6
Genomic Mutations

4 involving P3h1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

27 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit reduced size, disproportional reduction in long bone length, decreased bone density, decreased bone mineral density, reduced body fat, delayed ossification, and abnormal collagen networks in the skin and tendons.

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All GO Annotations

25
GO References

9

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

966
Tissues

105
cDNA Data

64
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA P3H1

Xenbase p3h1

ZFIN p3h1

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All Sequences

68
RefSeq

9
UniProt

4
CCDS

CCDS18576.1, CCDS38859.1, CCDS38860.1, CCDS71460.1

Ensembl

ENSMUSG00000028641 (Evidence)
NCBI Gene

56401

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028641	Ensembl Gene Model \| MGI Sequence Detail	16061	C57BL/6J	± kb
transcript	ENSMUST00000102662	Ensembl \| MGI Sequence Detail	2977	Not Applicable
polypeptide	ENSMUSP00000099723	Ensembl \| MGI Sequence Detail	748	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000009759 prolyl 3-hydroxylase 1

(term hierarchy)
EC

1.14.11.7
InterPro Domains

IPR005123 Oxoglutarate/iron-dependent dioxygenase

IPR039575 Prolyl 3-hydroxylase

IPR006620 Prolyl 4-hydroxylase, alpha subunit

IPR044862 Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain

IPR011990 Tetratricopeptide-like helical domain superfamily

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All nucleic 70

cDNA 65

Primer pair 4

Other 1

Microarray probesets 4

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MGI:1919438

Summaries

All 60

Developmental Gene Expression 6

Diseases 1

Gene Ontology 9

Phenotypes 23
Earliest

J:95868 Wassenhove-McCarthy DJ, et al., Molecular characterization of a novel basement membrane-associated proteoglycan, leprecan. J Biol Chem. 1999 Aug 27;274(35):25004-17
Latest

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for P3h1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr1281	Chr4:119090082-119090085 (+)	-28 bp
Tssr38724	Chr4:119090093-119090153 (+)	11 bp
Tssr38725	Chr4:119091775-119091776 (+)	1,664 bp
Tssr38726	Chr4:119094099-119094102 (+)	3,989 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23