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    P4HA1 prolyl 4-hydroxylase subunit alpha 1 [ Homo sapiens (human) ]

    Gene ID: 5033, updated on 14-Nov-2024

    Summary

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    Official Symbol
    P4HA1provided by HGNC
    Official Full Name
    prolyl 4-hydroxylase subunit alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:8546
    See related
    Ensembl:ENSG00000122884 MIM:176710; AllianceGenome:HGNC:8546
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P4HA
    Summary
    This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in placenta (RPKM 35.1), liver (RPKM 30.4) and 24 other tissues See more
    Orthologs
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    Genomic context

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    See P4HA1 in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (73007217..73096866, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (73878593..73968258, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (74766975..74856624, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902451 Neighboring gene phospholipase A2 group XIIB Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:74741016-74741516 Neighboring gene ribosomal protein L17 pseudogene 50 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74778077-74778636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3554 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:74856005-74856760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3555 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:74866945-74867185 Neighboring gene nudix hydrolase 13 Neighboring gene small nucleolar RNA, H/ACA box 11F Neighboring gene uncharacterized LOC124902452 Neighboring gene ecdysoneless cell cycle regulator

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Knockdown of P4HA1 inhibits neovascularization via targeting glioma stem cell-endothelial cell transdifferentiation and disrupting vascular basement membrane. Zhou Y, et al. Oncotarget, 2017 May 30. PMID 28415787, Free PMC Article
    2. Comprehensive Analysis of Gene Expression Profiles Identifies a P4HA1-Related Gene Panel as a Prognostic Model in Colorectal Cancer Patients. Chen Z, et al. Cancer Biother Radiopharm, 2021 Oct. PMID 34520234
    3. Systematic Analysis of the Expression and Prognostic Significance of P4HA1 in Pancreatic Cancer and Construction of a lncRNA-miRNA-P4HA1 Regulatory Axis. Hu Z, et al. Biomed Res Int, 2020. PMID 33415167, Free PMC Article
    4. Overexpression of P4HA1 Is Correlated with Poor Survival and Immune Infiltrates in Lung Adenocarcinoma. Zhou H, et al. Biomed Res Int, 2020. PMID 33299876, Free PMC Article
    5. Identification of Potential Diagnostic and Prognostic Values of P4HA1 Expression in Lung Cancer, Breast Cancer, and Head and Neck Cancer. Li M, et al. DNA Cell Biol, 2020 May. PMID 32150689

    See all (148) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Targeting HIF-activated collagen prolyl 4-hydroxylase expression disrupts collagen deposition and blocks primary and metastatic uveal melanoma growth.
      Title: Targeting HIF-activated collagen prolyl 4-hydroxylase expression disrupts collagen deposition and blocks primary and metastatic uveal melanoma growth.
    2. 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.
    3. P4HA1 expression and function in esophageal squamous cell carcinoma.
      Title: P4HA1 expression and function in esophageal squamous cell carcinoma.
    4. Prolyl 4-hydroxylase P4HA1 Mediates the Interplay Between Glucose Metabolism and Stemness in Pancreatic Cancer Cells.
      Title: Prolyl 4-hydroxylase P4HA1 Mediates the Interplay Between Glucose Metabolism and Stemness in Pancreatic Cancer Cells.
    5. P4HA1 Promotes Cell Migration and Colonization in Hypopharyngeal Squamous Cell Carcinoma.
      Title: P4HA1 Promotes Cell Migration and Colonization in Hypopharyngeal Squamous Cell Carcinoma.
    6. Identification and verification of FN1, P4HA1 and CREBBP as potential biomarkers in human atrial fibrillation.
      Title: Identification and verification of FN1, P4HA1 and CREBBP as potential biomarkers in human atrial fibrillation.
    7. P4HA1, transcriptionally activated by STAT1, promotes esophageal cancer progression.
      Title: P4HA1, transcriptionally activated by STAT1, promotes esophageal cancer progression.
    8. P4HA1 activates HMGCS1 to promote nasopharyngeal carcinoma ferroptosis resistance and progression.
      Title: P4HA1 activates HMGCS1 to promote nasopharyngeal carcinoma ferroptosis resistance and progression.
    9. Prognostic and diagnostic roles of prolyl 4-hydroxylase subunit alpha members in breast cancer.
      Title: Prognostic and diagnostic roles of prolyl 4-hydroxylase subunit α members in breast cancer.
    10. Comprehensive Analysis of Gene Expression Profiles Identifies a P4HA1-Related Gene Panel as a Prognostic Model in Colorectal Cancer Patients.
      Title: Comprehensive Analysis of Gene Expression Profiles Identifies a P4HA1-Related Gene Panel as a Prognostic Model in Colorectal Cancer Patients.
    Submit: New GeneRIF Correction See all GeneRIFs (35)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with P4HA1; predicted interaction to be within the endoplasmic reticulum PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: ECD

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in collagen fibril organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    part_of procollagen-proline 4-dioxygenase complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    prolyl 4-hydroxylase subunit alpha-1
    Names
    C-P4Halpha(I)
    collagen prolyl 4-hydroxylase alpha(I)
    procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I
    procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1
    prolyl 4-hydroxylase, alpha polypeptide I
    NP_000908.2
    NP_001017962.1
    NP_001136067.1
    NP_001136068.1

    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_000917.4 → NP_000908.2  prolyl 4-hydroxylase subunit alpha-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000908.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AI061083, AK312593, CD013930, DB030709
      Consensus CDS
      CCDS7320.1
      UniProtKB/TrEMBL
      Q5VSQ6
      Related
      ENSP00000263556.3, ENST00000263556.3
      Conserved Domains (2) summary
      smart00702
      Location:345 → 518
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:25 → 112
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    2. NM_001017962.3 → NP_001017962.1  prolyl 4-hydroxylase subunit alpha-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001017962.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame exon, compared to variant 1. It encodes isoform 2, which is the same length as isoform 1. Variants 2 and 3 both encode isoform 2.
      Source sequence(s)
      AI061083, BC034998, DB030709
      Consensus CDS
      CCDS41537.1
      UniProtKB/Swiss-Prot
      C9JL12, P13674, Q15082, Q15083, Q5VSQ5
      Related
      ENSP00000378353.2, ENST00000394890.7
      Conserved Domains (2) summary
      smart00702
      Location:345 → 518
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:25 → 112
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    3. NM_001142595.2 → NP_001136067.1  prolyl 4-hydroxylase subunit alpha-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001136067.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and contains an alternate in-frame exon, compared to variant 1. It encodes isoform 2, which is the same length as isoform 1. Variants 2 and 3 both encode isoform 2.
      Source sequence(s)
      AI061083, CD013930, DB030709
      Consensus CDS
      CCDS41537.1
      UniProtKB/Swiss-Prot
      C9JL12, P13674, Q15082, Q15083, Q5VSQ5
      Conserved Domains (2) summary
      smart00702
      Location:345 → 518
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:25 → 112
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    4. NM_001142596.2 → NP_001136068.1  prolyl 4-hydroxylase subunit alpha-1 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AI061083, CD013929, DB030709
      Consensus CDS
      CCDS44432.1
      UniProtKB/Swiss-Prot
      P13674
      Related
      ENSP00000414464.1, ENST00000440381.5
      Conserved Domains (2) summary
      smart00702
      Location:345 → 500
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:24 → 153
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      73007217..73096866 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      73878593..73968258 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P13674.2 GenPept UniProtKB/Swiss-Prot:P13674

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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