P4ha1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: P4ha1provided by MGI
Official Full Name: procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptideprovided by MGI
Primary source: MGI:MGI:97463
See related: Ensembl:ENSMUSG00000019916 AllianceGenome:MGI:97463
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: P4ha
Summary: Enables procollagen-proline 4-dioxygenase activity. Acts upstream of or within collagen fibril organization and peptidyl-proline hydroxylation to 4-hydroxy-L-proline. Part of procollagen-proline 4-dioxygenase complex. Is expressed in several structures, including genitourinary system; jaw; limb; sensory organ; and skeleton. Orthologous to human P4HA1 (prolyl 4-hydroxylase subunit alpha 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in limb E14.5 (RPKM 22.1), placenta adult (RPKM 17.9) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B4; 10 29.52 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (59159019..59209126)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (59323197..59373304)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification and validation of INHBE and P4HA1 as hub genes in non-alcoholic fatty liver disease.
Title: Identification and validation of INHBE and P4HA1 as hub genes in non-alcoholic fatty liver disease.
Superoxide-induced Type I collagen secretion depends on prolyl 4-hydroxylases.
Title: Superoxide-induced Type I collagen secretion depends on prolyl 4-hydroxylases.
miR-124-3p inhibits vascular smooth muscle cell collagen synthesis by directly targeting P4HA1, which might decrease atherosclerotic plaque stability.
Title: MicroRNA-124-3p inhibits collagen synthesis in atherosclerotic plaques by targeting prolyl 4-hydroxylase subunit alpha-1 (P4HA1) in vascular smooth muscle cells.
AMPKalpha/AP-2alpha/miR-124/P4Halpha1 axis plays a crucial role in the regulation of collagen synthesis in advanced atherosclerotic lesions. Targeting AMPKalpha/AP-2alpha/miRNA-124/P4Halpha1 signaling should be considered to increase the plaque stability in patients with atherosclerosis.
Title: AMPKα inactivation destabilizes atherosclerotic plaque in streptozotocin-induced diabetic mice through AP-2α/miRNA-124 axis.
N259 glycosylation induces P4HA1 to hydroxylate specific prolines in collagen 1 alpha 2, resulting in more pepsin-resistant collagen. Silencing STT3B or magnesium transporter 1 (MAGT1), the enzymes responsible for N259 glycosylation on P4HA1, significantly decreases hydroxylation of five prolines in collagen 1 alpha 2 and eight prolines in collagen 1alpha 1.
Title: Ascorbate inducible N259 glycans on prolyl 4-hydroxylase subunit α1 promote hydroxylation and secretion of type I collagen.
Overexpression of P4Ha1 increased atherosclerotic plaque size.
Title: Overexpression of Prolyl-4-Hydroxylase-α1 Stabilizes but Increases Shear Stress-Induced Atherosclerotic Plaque in Apolipoprotein E-Deficient Mice.
Impaired extracellular matrix is the primary cause of death of C-P4H-I+/-;C-P4H-II-/- growth plate chondrocytes.
Title: Severe Extracellular Matrix Abnormalities and Chondrodysplasia in Mice Lacking Collagen Prolyl 4-Hydroxylase Isoenzyme II in Combination with a Reduced Amount of Isoenzyme I.
IL-6 destabilizes atherosclerotic plaques by downregulating P4Halpha1 via an RAF-MEK1/2-ERK1/2 MAPK and c-Jun pathway.
Title: Interleukin 6 destabilizes atherosclerotic plaques by downregulating prolyl-4-hydroxylase α1 via a mitogen-activated protein kinase and c-Jun pathway.
C-P4H alpha(I) and alpha(II) mRNA levels were increased in hypoxic mouse chondrocytes in a manner dependent on HIF-1a.
Title: Hypoxia-inducible factor-1 (HIF-1) but not HIF-2 is essential for hypoxic induction of collagen prolyl 4-hydroxylases in primary newborn mouse epiphyseal growth plate chondrocytes.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables L-ascorbic acid binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables procollagen-proline 4-dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables procollagen-proline 4-dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables procollagen-proline 4-dioxygenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables procollagen-proline 4-dioxygenase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in collagen fibril organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
part_of procollagen-proline 4-dioxygenase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: prolyl 4-hydroxylase subunit alpha-1

Names: 4-PH alpha-1; procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1

NP_001303299.1

EC 1.14.11.2

NP_001303300.1

EC 1.14.11.2

NP_035160.1

EC 1.14.11.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001316370.2 → NP_001303299.1 prolyl 4-hydroxylase subunit alpha-1 isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AC157089

Consensus CDS

CCDS83699.1

UniProtKB/TrEMBL

E9Q7B0, Q3TTT2

Related

ENSMUSP00000090170.5, ENSMUST00000092512.11

Conserved Domains (2) summary

smart00702
Location:265 → 438

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

pfam08336
Location:24 → 153

P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
NM_001316371.2 → NP_001303300.1 prolyl 4-hydroxylase subunit alpha-1 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC157089

Consensus CDS

CCDS83698.1

UniProtKB/TrEMBL

Q3TN84

Related

ENSMUSP00000101106.3, ENSMUST00000105466.3

Conserved Domains (2) summary

smart00702
Location:345 → 518

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

pfam08336
Location:24 → 153

P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
NM_001428704.1 → NP_001415633.1 prolyl 4-hydroxylase subunit alpha-1 isoform 4 precursor

Status: VALIDATED

Source sequence(s)

AC157089
NM_011030.3 → NP_035160.1 prolyl 4-hydroxylase subunit alpha-1 isoform 3 precursor

See identical proteins and their annotated locations for NP_035160.1

Status: VALIDATED

Source sequence(s)

AC157089

Consensus CDS

CCDS23863.1

UniProtKB/Swiss-Prot

Q3TEB7, Q60715, Q80T05, Q91VJ7

UniProtKB/TrEMBL

Q3TN84

Related

ENSMUSP00000009789.9, ENSMUST00000009789.15

Conserved Domains (2) summary

smart00702
Location:345 → 518

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

pfam08336
Location:24 → 153

P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region