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

Gene ID: 18451, updated on 28-Oct-2024

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
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Genomic context

See P4ha1 in Genome Data Viewer
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_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 36257 Neighboring gene predicted gene, 40669 Neighboring gene STARR-seq mESC enhancer starr_26768 Neighboring gene predicted gene, 40670 Neighboring gene STARR-seq mESC enhancer starr_26769 Neighboring gene translocase of inner mitochondrial membrane 23 homolog pseudogene Neighboring gene phospholipase A2, group XIIB

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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

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
NP_001303300.1
NP_035160.1

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)

  1. NM_001316370.2NP_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:265438
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    pfam08336
    Location:24153
    P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
  2. NM_001316371.2NP_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:345518
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    pfam08336
    Location:24153
    P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
  3. NM_001428704.1NP_001415633.1  prolyl 4-hydroxylase subunit alpha-1 isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC157089
  4. NM_011030.3NP_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:345518
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    pfam08336
    Location:24153
    P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

RNA

  1. NR_190471.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC157089
  2. NR_190472.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC157089
  3. NR_190473.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC157089
  4. NR_190474.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC157089
  5. NR_190475.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC157089

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    59159019..59209126
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_380369.5 RNA Sequence

  2. XR_380368.5 RNA Sequence

  3. XR_001779475.3 RNA Sequence

  4. XR_003948602.2 RNA Sequence

  5. XR_001779474.3 RNA Sequence