1. Gene
  2. SMOX - spermine oxidase Gene

SMOX - spermine oxidase Gene

中文名称:精胺氧化酶

种属: Homo sapiens

同用名: PAO; SMO; PAO1; PAOH; PAO-1; PAOH1; C20orf16

基因 ID: 54498 | 基因类型: protein coding

关于 SMOX

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:4,148,828-4,187,727 (from NCBI)

This gene has 12 transcripts (splice variants), 215 orthologues and 7 paralogues. Ubiquitous expression in brain (RPKM 15.8), bone marrow (RPKM 10.0) and 25 other tissues.

功能概要

多胺是普遍存在的聚阳离子烷基胺,包括精胺、亚精胺、腐胺和胍丁胺。这些分子参与广泛的细胞功能,包括细胞周期调节、清除活性氧和控制基因表达。这些分子还通过调节细胞表面受体活性、参与细胞内信号通路以及它们作为神经递质的推定作用在神经传递中发挥重要作用。该基因编码一种含有 FAD 的酶,该酶催化精胺氧化为精胺并继而产生过氧化氢。已经为该基因鉴定了编码不同同工酶的多个转录物变体,其中一些未能证明对天然多胺底物具有显着的氧化酶活性。表征的同工酶具有独特的生化特征和底物特异性,表明多胺分解代谢中存在额外的复杂性水平。[RefSeq 提供,2012 年 7 月]

Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell cycle modulation, scavenging Reactive Oxygen Species, and the control of gene expression. These molecules also play important roles in neurotransmission through their regulation of cell-surface receptor activity, involvement in intracellular signalling pathways, and their putative roles as neurotransmitters. This gene encodes an FAD-containing enzyme that catalyzes the oxidation of spermine to spermadine and secondarily produces hydrogen peroxide. Multiple transcript variants encoding different isoenzymes have been identified for this gene, some of which have failed to demonstrate significant oxidase activity on natural polyamine substrates. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq, Jul 2012]

SMOX 基因产物(5)

mRNA Protein Name
NM_001270691.2 NP_001257620.1 spermine oxidase isoform 6
NM_175839.3 NP_787033.1 spermine oxidase isoform 1
NM_175840.3 NP_787034.1 spermine oxidase isoform 2
NM_175841.3 NP_787035.1 spermine oxidase isoform 3
NM_175842.3 NP_787036.1 spermine oxidase isoform 4

SMOX 蛋白结构

Amino_oxidase

Amino_oxidase: Flavin containing amine oxidoreductase (34 - 267)

Amino_oxidase

Amino_oxidase: Flavin containing amine oxidoreductase (311 - 544)

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  • 555 a.a.
蛋白主名 其他名称

spermine oxidase

flavin containing amine oxidase

关联疾病

疾病名称 别名
Syndromic X-Linked Intellectual Disability Snyder Type

Snyder-Robinson Syndrome

Mental Retardation, X-Linked, Snyder-Robinson Type

Spermine Synthase Deficiency

Srs

Snyder-Robinson Mental Retardation Syndrome

X-Linked Intellectual Disability Snyder-Robinson Type

Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Snyder-Robinson X-Linked Mental Retardation Syndrome

Keratosis Follicularis Spinulosa Decalvans

Kfsd

Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi

Keratosis Follicularis Spinulosa Decalvans, X-Linked

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Keratosis Pilaris Atrophicans

KPA

Burnett Schwartz Berberian Syndrome

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
Macaca mulatta SMOX VGNC VGNC:98448
Felis catus SMOX VGNC VGNC:65500
Mus musculus SMOX MGD MGI:2445356
Bos taurus SMOX VGNC VGNC:35028
Rattus norvegicus SMOX RGD RGD:1306049
Canis familiaris SMOX VGNC VGNC:46568