1. Gene
  2. MOCOS - molybdenum cofactor sulfurase Gene

MOCOS - molybdenum cofactor sulfurase Gene

中文名称:钼辅助因子硫化酶

种属: Homo sapiens

同用名: MCS; MOS; HMCS

基因 ID: 55034 | 基因类型: protein coding

关于 MOCOS

Cytogenetic location: 18q12.2 Genomic coordinates (GRCh38): 18:36,187,497-36,272,157 (from NCBI)

This gene has 2 transcripts (splice variants), 204 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in liver (RPKM 7.8), adrenal (RPKM 7.4) and 18 other tissues.

功能概要

该基因编码一种酶,该酶可使钼辅助因子硫化,这是激活黄嘌呤脱氢酶 (XDH) 和醛氧化酶 (AO) 酶所必需的。 XDH 催化次黄嘌呤通过黄嘌呤转化为尿酸,以及别嘌醇转化为氧嘌呤醇和吡嗪酰胺转化为 5-羟基吡嗪酰胺。该基因的突变导致代谢紊乱经典黄尿症 II 型,其特征是 XDH/XO 和 AO 酶活性丧失,尿液中尿酸水平降低,血清和尿液中黄嘌呤和次黄嘌呤水平升高,形成泌尿道中的黄嘌呤结石,以及组织沉积黄嘌呤引起的肌炎。[RefSeq 提供,2017 年 4 月]

This gene encodes an Enzyme that sulfurates the molybdenum cofactor which is required for activation of the xanthine dehydrogenase (XDH) and aldehyde oxidase (AO) Enzymes. XDH catalyzes the conversion of hypoxanthine to uric acid via xanthine, as well as the conversion of allopurinol to oxypurinol, and pyrazinamide to 5-hydroxy pyrazinamide. Mutations in this gene cause the metabolic disorder classical xanthinuria type II which is characterized by the loss of XDH/XO and AO Enzyme activity, decreased levels of uric acid in the urine, increased levels of xanthine and hypoxanthine in the serum and urine, formation of xanthine stones in the urinary tract, and myositis due to tissue deposition of xanthine. [provided by RefSeq, Apr 2017]

MOCOS 基因产物(1)

mRNA Protein Name
NM_017947.4 NP_060417.4 molybdenum cofactor sulfurase
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables molybdenum cofactor sulfurtransferase activity IMP
IMP: 通过突变表型推断
11302742 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21516116 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in molybdopterin cofactor metabolic process IMP
IMP: 通过突变表型推断
11302742 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

MOCOS 蛋白结构

Aminotran_5

Aminotran_5: Aminotransferase class-V (50 - 481)

MOSC_N

MOSC_N: MOSC N-terminal beta barrel domain (584 - 701)

MOSC

MOSC: MOSC domain (728 - 865)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 888 a.a.
蛋白主名 其他名称

molybdenum cofactor sulfurase

MOCOS 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra MOCOS Q96EN8 ARL8A Homo sapiens Q96BM9
Y2H Prey Pooling
32296183
Intra MOCOS Q96EN8 ARL8A Homo sapiens Q96BM9
Y2H Array
32296183
Intra MOCOS Q96EN8 PARVA Homo sapiens Q9NVD7
Y2H Prey Pooling
25416956
Intra MOCOS Q96EN8 PARVA Homo sapiens Q9NVD7
Y2H
21516116
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Xanthinuria, Type Ii

Xanthinuria Type Ii

XAN2

Xdh And Aox Dual Deficiency

Xanthine Dehydrogenase And Aldehyde Oxidase, Combined Deficiency Of

Xanthinuria Type 2

Type 2 Xanthinuria

Type Ii Xanthinuria

Xanthine Dehydrogenase And Aldehyde Oxidase Combined Deficiency Of

Xanthine Dehydrogenase And Xanthine Aldehyde Oxidase Dual Deficiency

Xanthinuria 2

Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase

Xanthic Urolithiasis

Xanthinuria

Xanthine Dehydrogenase Deficiency

Xanthine Oxidase Deficiency

Hereditary Xanthinuria

Xanthic Urolithiasis

Xanthine Stone Disease

Xanthinuria, Type I

Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase

Xdh Deficiency

Classic Xanthinuria

Xanthinuria, Type Ii

Classical Xanthinuria

Xanthine Calculus

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Prolidase Deficiency

Hyperimidodipeptiduria

Imidodipeptidase Deficiency

Peptidase Deficiency

PD

Deficiency Of Prolidase

Imidodipeptiduria

Proline Dipeptidase Deficiency

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus MOCOS RGD RGD:1308496
Macaca mulatta MOCOS VGNC VGNC:74792
Canis familiaris MOCOS VGNC VGNC:43305
Felis catus MOCOS VGNC VGNC:63549
Mus musculus MOCOS MGD MGI:1915841
Bos taurus MOCOS VGNC VGNC:31547