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P4hb prolyl 4-hydroxylase, beta polypeptide [ Mus musculus (house mouse) ]

Gene ID: 18453, updated on 13-May-2024

Summary

Official Symbol
P4hbprovided by MGI
Official Full Name
prolyl 4-hydroxylase, beta polypeptideprovided by MGI
Primary source
MGI:MGI:97464
See related
Ensembl:ENSMUSG00000025130 AllianceGenome:MGI:97464
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
PDI; Thbp; ERp59; Pdia1
Summary
Enables integrin binding activity. Acts upstream of or within cellular response to interleukin-7. Located in endoplasmic reticulum and external side of plasma membrane. Part of endoplasmic reticulum chaperone complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Orthologous to human P4HB (prolyl 4-hydroxylase subunit beta). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta adult (RPKM 477.0), liver adult (RPKM 327.1) and 27 other tissues See more
Orthologs
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Genomic context

See P4hb in Genome Data Viewer
Location:
11 E2; 11 84.27 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (120451124..120464079, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (120560298..120573253, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene MAPK regulated corepressor interacting protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E8476 Neighboring gene protein phosphatase 1, regulatory subunit 27 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:120434472-120434581 Neighboring gene Rho GDP dissociation inhibitor alpha Neighboring gene predicted gene 3807

Genomic regions, transcripts, and products

Expression

  • Project title: 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)
  • Endonuclease-mediated (5) 
  • Gene trapped (1) 
  • Targeted (4)  1 citation

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 actin binding ISO
Inferred from Sequence Orthology
more info
 
enables enzyme binding ISO
Inferred from Sequence Orthology
more info
 
enables integrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables integrin binding ISO
Inferred from Sequence Orthology
more info
 
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
 
contributes_to procollagen-proline 4-dioxygenase activity ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein disulfide isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein disulfide isomerase activity ISO
Inferred from Sequence Orthology
more info
 
enables protein heterodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables protein-disulfide reductase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein-disulfide reductase activity ISO
Inferred from Sequence Orthology
more info
 
enables thiol oxidase activity ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
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
PubMed 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
PubMed 
part_of endoplasmic reticulum chaperone complex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endoplasmic reticulum lumen IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in endoplasmic reticulum-Golgi intermediate compartment ISO
Inferred from Sequence Orthology
more info
 
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in external side of plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in lamellipodium ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
part_of procollagen-proline 4-dioxygenase complex ISO
Inferred from Sequence Orthology
more info
 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
protein disulfide-isomerase
Names
ER protein 59
cellular thyroid hormone-binding protein
endoplasmic reticulum resident protein 59
p55
prolyl 4-hydroxylase subunit beta
NP_035162.1

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_011032.3NP_035162.1  protein disulfide-isomerase precursor

    See identical proteins and their annotated locations for NP_035162.1

    Status: VALIDATED

    Source sequence(s)
    AK159606, BP766087, CA317831
    Consensus CDS
    CCDS25742.1
    UniProtKB/Swiss-Prot
    P09103, Q922C8
    UniProtKB/TrEMBL
    Q3TF72, Q3TGS0, Q3THC3, Q3TIM0, Q3TWE3, Q3UA23, Q3UBY9, Q3UJA8, Q3URP6
    Related
    ENSMUSP00000026122.5, ENSMUST00000026122.11
    Conserved Domains (5) summary
    cd02981
    Location:139234
    PDI_b_family; Protein Disulfide Isomerase (PDIb) family, redox inactive TRX-like domain b; composed of eukaryotic proteins involved in oxidative protein folding in the endoplasmic reticulum (ER) by acting as catalysts and folding assistants. Members of this family ...
    cd02982
    Location:246349
    PDI_b'_family; Protein Disulfide Isomerase (PDIb') family, redox inactive TRX-like domain b'; composed of eukaryotic proteins involved in oxidative protein folding in the endoplasmic reticulum (ER) by acting as catalysts and folding assistants. Members of this family ...
    cd02995
    Location:370472
    PDI_a_PDI_a'_C; PDIa family, C-terminal TRX domain (a') subfamily; composed of the C-terminal redox active a' domains of PDI, ERp72, ERp57 (or ERp60) and EFP1. PDI, ERp72 and ERp57 are endoplasmic reticulum (ER)-resident eukaryotic proteins involved in oxidative protein ...
    TIGR01130
    Location:26476
    ER_PDI_fam; protein disulfide isomerase, eukaryotic
    cl00388
    Location:31135
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

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_000077.7 Reference GRCm39 C57BL/6J

    Range
    120451124..120464079 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)