P3h3 MGI Mouse Gene Detail - MGI:1315208

Symbol

P3h3
Name

prolyl 3-hydroxylase 3
Synonyms

Grcb, Leprel2

Feature Type

protein coding gene
IDs

MGI:1315208
NCBI Gene: 14789
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr6:124818052-124834680 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 59.17 cM
Mapping Data

1 experiment

SNPs within 2kb

468 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1315208	protein coding gene	Chr6:124818052-124834715 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0031273	protein coding gene	Chr6:128150163-128168351 (-)
A/J	MGP_AJ_G0031243	protein coding gene	Chr6:123327342-123343972 (-)
AKR/J	MGP_AKRJ_G0031171	protein coding gene	Chr6:126692536-126709488 (-)
BALB/cJ	MGP_BALBcJ_G0031251	protein coding gene	Chr6:122927233-122944345 (-)
C3H/HeJ	MGP_C3HHeJ_G0030974	protein coding gene	Chr6:126739684-126757976 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031707	protein coding gene	Chr6:131531446-131548703 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028857	protein coding gene	Chr6:120537701-120538742 (-)
CAST/EiJ	MGP_CASTEiJ_G0030355	protein coding gene	Chr6:126944187-126963569 (-)
CBA/J	MGP_CBAJ_G0030935	protein coding gene	Chr6:136563002-136579673 (-)
DBA/2J	MGP_DBA2J_G0031091	protein coding gene	Chr6:122253885-122271136 (-)
FVB/NJ	MGP_FVBNJ_G0031041	protein coding gene	Chr6:121156637-121174321 (-)
LP/J	MGP_LPJ_G0031171	protein coding gene	Chr6:128318650-128335279 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031079	protein coding gene	Chr6:140623125-140639647 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031742	protein coding gene	Chr6:126585422-126602114 (-)
PWK/PhJ	MGP_PWKPhJ_G0030070	protein coding gene	Chr6:120484954-120502213 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0029899	protein coding gene	Chr6:124670185-124686848 (-)
WSB/EiJ	MGP_WSBEiJ_G0030440	protein coding gene	Chr6:126945838-126963741 (-)

Human Ortholog

P3H3, prolyl 3-hydroxylase 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

P3H3, prolyl 3-hydroxylase 3
Synonyms

GRCB, HSU47926, LEPREL2
Links

HGNC:19318

NCBI Gene ID: 10536

neXtProt AC: NX_Q8IVL6

UniProt: Q8IVL6
Chr Location

12p13.31; chr12:6828407-6839847 (+) GRCh38

MGI Vertebrate Homology

P3h3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: P3H3
Gene Tree

P3h3

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Phenotype Summary

5 phenotypes from 2 alleles in 2 genetic backgrounds
12 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

8
Endonuclease-mediated

1
Gene trapped

3
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

47 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit collagen fiber fragility in the skin.

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All GO Annotations

14
GO References

10

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	membraneless 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

813
Tissues

80
cDNA Data

33
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase p3h3

ZFIN p3h3

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All Sequences

43
RefSeq

5
UniProt

2
CCDS

CCDS20533.1

Ensembl

ENSMUSG00000023191 (Evidence)
NCBI Gene

14789

			Length	Strain/Species	Flank
genomic	14789	NCBI Gene Model \| MGI Sequence Detail	16629	C57BL/6J	± kb
transcript	NR_163806	RefSeq \| MGI Sequence Detail	3163	ZRU/MplStud
polypeptide	Q8CG70	UniProt \| EBI \| MGI Sequence Detail	732	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000009761 prolyl 3-hydroxylase 3

(term hierarchy)
EC

1.14.11.7
InterPro Domains

IPR052284 Collagen-modifying leprecan protein

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
GlyGen

Q8CG70 2 sites, 1 N-linked glycan (1 site)

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All nucleic 36

Genomic 1

cDNA 33

Primer pair 2

Microarray probesets 2

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MGI:3039608

Summaries

All 42

Developmental Gene Expression 4

Gene Ontology 10

Phenotypes 12
Earliest

J:45711 Ansari-Lari MA, et al., Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6. Genome Res. 1998 Jan;8(1):29-40
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for P3h3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr63189	Chr6:124834670-124834718 (-)	-14 bp
Tssr63188	Chr6:124834650-124834668 (-)	21 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 12/10/2024 MGI 6.24