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

Homo sapiens

Also known as NO55; SC65; NOL55; LEPREL4

Gene ID: 10609 | Gene type: protein coding

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09941	P3H4 Human Pre-designed siRNA Set A		/	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