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

gene 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

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97463	protein coding gene	Chr10:59159019-59209126 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017255	protein coding gene	Chr10:58489133-58540713 (+)
A/J	MGP_AJ_G0017232	protein coding gene	Chr10:56781536-56832907 (+)
AKR/J	MGP_AKRJ_G0017191	protein coding gene	Chr10:58241305-58291357 (+)
BALB/cJ	MGP_BALBcJ_G0017193	protein coding gene	Chr10:56845522-56895693 (+)
C3H/HeJ	MGP_C3HHeJ_G0017016	protein coding gene	Chr10:58171461-58222071 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017651	protein coding gene	Chr10:60587227-60640002 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015342	protein coding gene	Chr10:53817349-53869905 (+)
CAST/EiJ	MGP_CASTEiJ_G0016587	protein coding gene	Chr10:58093634-58147198 (+)
CBA/J	MGP_CBAJ_G0016988	protein coding gene	Chr10:62761310-62814047 (+)
DBA/2J	MGP_DBA2J_G0017093	protein coding gene	Chr10:56088231-56141834 (+)
FVB/NJ	MGP_FVBNJ_G0017087	protein coding gene	Chr10:55324685-55374459 (+)
LP/J	MGP_LPJ_G0017168	protein coding gene	Chr10:58863844-58914701 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017115	protein coding gene	Chr10:65285477-65339275 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017688	protein coding gene	Chr10:58050028-58102927 (+)
PWK/PhJ	MGP_PWKPhJ_G0016370	protein coding gene	Chr10:55898078-55950345 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016153	protein coding gene	Chr10:57408228-57458061 (+)
WSB/EiJ	MGP_WSBEiJ_G0016651	protein coding gene	Chr10:57956833-58007069 (+)

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

neXtProt AC: NX_P13674

UniProt: P13674
Chr Location

10q22.1; chr10:73007217-73096974 (-) 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
21 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

20
Chemically induced (other)

1
Gene trapped

15
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving P4ha1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

27 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

18
GO References

8

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

951
Tissues

134
cDNA Data

81
Literature Summary

8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

64
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	ENSMUST00000105466	Ensembl \| MGI Sequence Detail	2918	Not Applicable
polypeptide	ENSMUSP00000101106	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

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 alpha-subunit, N-terminal

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 85

cDNA 82

Primer pair 3

Microarray probesets 4

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MGD-MRK-13113, MGI:2143707

Summaries

All 57

Developmental Gene Expression 8

Gene Ontology 8

Phenotypes 21
Earliest

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

J:344456 Salo AM, et al., Collagen prolyl 4-hydroxylase isoenzymes I and II have sequence specificity towards different X-Pro-Gly triplets. Matrix Biol. 2023 Dec 9;

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 12/10/2024 MGI 6.24