P4ha1 MGI Mouse Gene Detail - MGI:97463 - procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide

Symbol

P4ha1
Name

procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide
Synonyms

P4ha

Feature Type

protein coding gene
IDs

MGI:97463
NCBI Gene: 18451
Alliance

genome feature page
Transcription Start Sites

4 TSS

Sequence Map

Chr10:59159118-59209126 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 29.52 cM
Mapping Data

3 experiments

SNPs within 2kb

1543 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97463	protein coding gene	Chr10:59159019-59209126 (+)
129S1/SvImJ	ENSMUSG00200024788	protein coding gene	Chr10:55828270-55878281 (+)
A/J	ENSMUSG00195026832	protein coding gene	Chr10:56122681-56172694 (+)
AKR/J	ENSMUSG00220039297	protein coding gene	Chr10:55827530-55877539 (+)
BALB/cJ	ENSMUSG00180026719	protein coding gene	Chr10:56177722-56227732 (+)
C3H/HeJ	ENSMUSG00175025637	protein coding gene	Chr10:56035565-56085573 (+)
C57BL/6NJ	ENSMUSG00215025964	protein coding gene	Chr10:55775856-55825868 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015342	protein coding gene	Chr10:53817349-53869905 (+)
CAST/EiJ	ENSTCUG00005025332	protein coding gene	Chr10:55826336-55876486 (+)
CBA/J	ENSMUSG00210031286	protein coding gene	Chr10:55913918-55963929 (+)
DBA/2J	ENSMUSG00185041329	protein coding gene	Chr10:56257591-56307602 (+)
FVB/NJ	ENSMUSG00205022363	protein coding gene	Chr10:55927691-55977703 (+)
JF1/MsJ	ENSUMUG00000010677	protein coding gene	Chr10:57493403-57542935 (+)
LP/J	ENSMUSG00230022575	protein coding gene	Chr10:58058629-58108637 (+)
NOD/ShiLtJ	ENSMUSG00190034769	protein coding gene	Chr10:56241222-56291230 (+)
NZO/HlLtJ	ENSMUSG00225045001	protein coding gene	Chr10:62344850-62394858 (+)
PWK/PhJ	ENSLUMG00010022952	protein coding gene	Chr10:55859570-55910366 (+)
SPRET/EiJ	ENSMSPG00010025109	protein coding gene	Chr10:57421499-57470847 (+)
WSB/EiJ	ENSIUOG00005035869	protein coding gene	Chr10:55803828-55853841 (+)

Human Ortholog

P4HA1, prolyl 4-hydroxylase subunit alpha 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

P4HA1, prolyl 4-hydroxylase subunit alpha 1
Synonyms

P4HA
Links

HGNC:8546

NCBI Gene ID: 5033

UniProt: P13674
Chr Location

10q22.1; chr10:73005811-73096983 (-) GRCh38

MGI Vertebrate Homology

P4ha1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: P4HA1
Gene Tree

P4ha1

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Phenotype Summary

8 phenotypes from 1 allele in 1 genetic background
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

24
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

15
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving P4ha1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null mutation display embryonic lethality during organogenesis, capillary ruptures, and impaired basement membrane formation.

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All GO Annotations

24
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

919
Tissues

165
cDNA Data

81
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

65
RefSeq

13
UniProt

5
CCDS

CCDS23863.1, CCDS83698.1, CCDS83699.1

Ensembl

ENSMUSG00000019916 (Evidence)
NCBI Gene

18451

			Length	Strain/Species	Flank
genomic	ENSMUSG00000019916	Ensembl Gene Model \| MGI Sequence Detail	50009	C57BL/6J	± kb
transcript	ENSMUST00000009789	Ensembl \| MGI Sequence Detail	4043	Not Applicable
polypeptide	ENSMUSP00000009789	Ensembl \| MGI Sequence Detail	534	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000012196 prolyl 4-hydroxylase subunit alpha-1

(term hierarchy)
EC

1.14.11.2
InterPro Domains

IPR005123 Oxoglutarate/iron-dependent dioxygenase domain

IPR045054 Prolyl 4-hydroxylase

IPR006620 Prolyl 4-hydroxylase, alpha subunit

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

IPR013547 Prolyl 4-hydroxylase, N-terminal

IPR059068 Prolyl 4-hydroxylase, peptide-substrate-binding domain

IPR011990 Tetratricopeptide-like helical domain superfamily

IPR019734 Tetratricopeptide repeat
GlyGen

Q60715 2 sites, 1 N-linked glycan (1 site)

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All nucleic 87

cDNA 82

Primer pair 5

Microarray probesets 4

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MGD-MRK-13113, MGI:2143707

Summaries

All 65

Developmental Gene Expression 9

Gene Ontology 10

Phenotypes 23
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:386957 Karjalainen E, et al., P4HA3 is dispensable for prolyl 4-hydroxylation of type I collagen during mouse development. J Biol Chem. 2026 Apr 16;302(6):111459

TSS for P4ha1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr93479	Chr10:59159179-59159196 (+)	70 bp
Tssr93480	Chr10:59181984-59182000 (+)	22,874 bp
Tssr93481	Chr10:59182145-59182162 (+)	23,036 bp
Tssr93482	Chr10:59204903-59204909 (+)	45,788 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 09/08/2026 MGI 6.24