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

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

中文名称:脯氨酰 3-羟化酶家族成员 4 (无活性)

种属: Homo sapiens

同用名: NO55; SC65; NOL55; LEPREL4

基因 ID: 10609 | 基因类型: protein coding

关于 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.

功能概要

这种核仁蛋白首先被表征是因为它是间质性膀胱炎病例的自身抗原。该蛋白质的预测分子量为 50 kDa,似乎位于间期核仁的微粒隔室中,其分布与核仁蛋白 B23 的分布不同。在有丝分裂期间,它与染色体有关。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_006455.3 NP_006446.1 endoplasmic reticulum protein SC65 precursor
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
23959653 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

endoplasmic reticulum protein SC65

leprecan-like 4

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus P3H4 RGD RGD:620767
Macaca mulatta P3H4 VGNC VGNC:99193
Mus musculus P3H4 MGD MGI:1913430