2. Gene
  3. QPRT - quinolinate phosphoribosyltransferase Gene

QPRT - quinolinate phosphoribosyltransferase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：喹啉磷酸核糖转移酶

种属: Homo sapiens

同用名: QPRTase; HEL-S-90n

基因 ID: 23475 | 基因类型: protein coding

关于 QPRT

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:29,679,008-29,698,699 (from NCBI)

This gene has 5 transcripts (splice variants) and 177 orthologues. Broad expression in kidney (RPKM 60.9), liver (RPKM 33.8) and 14 other tissues.

功能概要

该基因编码喹啉酸盐分解代谢中的关键酶，喹啉酸盐是色氨酸-烟酰胺腺嘌呤二核苷酸途径中的中间体。喹啉酸盐是一种对神经元最有效的内源性外毒素。大脑中喹啉酸盐水平的升高与癫痫、阿尔茨海默病和亨廷顿舞蹈病等神经退行性疾病的发病机制有关。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 12 月]

This gene encodes a key Enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimer's disease, and Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

QPRT 基因产物(3)

mRNA Protein Name
NM_001318249.1 NP_001305178.1 nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform 2
NM_001318250.2 NP_001305179.2 nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform 3 precursor
NM_014298.6 NP_055113.3 nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform 1 precursor

QPRT 蛋白结构

QRPTase_N

QRPTase_N: Quinolinate phosphoribosyl transferase, N-terminal domain (34 - 112)

QRPTase_C

QRPTase_C: Quinolinate phosphoribosyl transferase, C-terminal domain (114 - 284)

  • 0
  • 100
  • 200
  • 297 a.a.
蛋白主名 其他名称

nicotinate-nucleotide pyrophosphorylase [carboxylating]

epididymis secretory sperm binding protein Li 90n

重组 QPRT 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70971 QPRTase Protein, Human (His) AAH05060.1 (M1-H297) ≥95%

关联疾病

疾病名称 别名
Pellagra

Niacin Deficiency

Niacin-Tryptophan Deficiency

Pellagroid Syndrome
Hypertryptophanemia

HYPTRP

Hypertryptophanemia, Familial

Familial Hypertryptophanemia
Facial Dermatosis

Facial Dermatoses
Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy

Bafme

Benign Adult Familial Myoclonic Epilepsy

Fame

Familial Cortical Myoclonic Tremor And Epilepsy

Fcmte

Adcme

Autosomal Dominant Cortical Myoclonus And Epilepsy

Fam

Epilepsy, Myoclonic, Familial Adult

Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11503 QPRT Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris QPRT VGNC VGNC:103699
Felis catus QPRT VGNC VGNC:107812
Macaca mulatta QPRT VGNC VGNC:104747
Rattus norvegicus QPRT RGD RGD:1310309
Mus musculus QPRT MGD MGI:1914625
Others QPRT NCBI
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