P3H4 - prolyl 3-hydroxylase family member 4 (inactive) Gene

Also Known as NO55; SC65; NOL55; LEPREL4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10609

About P3H4

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:41,801,953-41,811,949 (from NCBI)

This gene has 8 transcripts (splice variants), 247 orthologues and 1 paralogue. Ubiquitous expression in placenta (RPKM 4.3), thyroid (RPKM 4.3) and 24 other tissues.

Summary

This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During Mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008]

P3H4 Products (1)

mRNA Protein Name
NM_006455.3 NP_006446.1 endoplasmic reticulum protein SC65 precursor

Gene Ontology

  • Cellular Component
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
23959653 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

endoplasmic reticulum protein SC65

  • leprecan-like 4

Related Diseases

Diseases Alias
Interstitial Cystitis

  • Bladder Pain Syndrome

  • Painful Bladder Syndrome

  • Ulcerative Cystitis

  • Ic/Bps

  • Ic/Pbs

  • Interstitial Cystitis/Bladder Pain Syndrome

  • Interstitial Cystitis/Painful Bladder Syndrome

  • Cystitis, Interstitial

  • Chronic Interstitial Cystitis

  • Pelvic Congestion Syndrome

  • Trigonitis
Cystitis

  • Infective Cystitis

  • Urocystitis

  • Pyocystitis
Ehlers-Danlos Syndrome

  • Eds

  • Cutis Hyperelastica

  • Elastic Skin

  • Ehlers-Danlos Syndromes

  • Ed Syndrome

  • Ehlers Danlos Syndrome

  • Ehlers Danlos Disease

  • Eds - [Ehlers-Danlos Syndrome]
Brittle Bone Disorder

  • Osteogenesis Imperfecta

  • Brittle Bone Disease

  • Fragilitas Ossium

  • Osteopsathyrosis

  • Lobstein Disease

  • Oi

  • Vrolik Disease

  • Lobstein'S Disease

  • Lobstein'S Syndrome

  • Vrolik'S Disease

  • Porak And Durante Disease

  • Glass Bone Disease

  • Osteogenesis Imperfecta, Dominant Perinatal Lethal

  • Osteogenesis Imperfecta, Recessive Perinatal Lethal

  • Brittle Bone Syndrome

  • Oi - [Osteogenesis Imperfecta]

  • Ossium Fragility

  • Osteitis Fragilitans

  • Bony Fragility

  • Blue Sclera With Fragility Of Bone And Deafness

  • White Blue Sclera - Fragility Of Bone - Deafness
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS09941 P3H4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus P3H4 RGD RGD:620767
Macaca mulatta P3H4 VGNC VGNC:99193
Mus musculus P3H4 MGD MGI:1913430
Others P3H4 NCBI