2. Gene
  3. LAS1L - LAS1 like ribosome biogenesis factor Gene

LAS1L - LAS1 like ribosome biogenesis factor Gene

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

中文名称：LAS1 样核糖体生物发生因子

种属: Homo sapiens

同用名: WTS; Las1; MRXSWTS; Las1-like; dJ475B7.2

基因 ID: 81887 | 基因类型: protein coding

关于 LAS1L

Cytogenetic location: Xq12 Genomic coordinates (GRCh38): X:65,512,582-65,534,787 (from NCBI)

This gene has 25 transcripts (splice variants), 216 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 11.3), brain (RPKM 8.2) and 25 other tissues.

功能概要

启用 RNA 结合活性。预计参与 5.8S rRNA 的成熟和 LSU-rRNA 的成熟。位于膜内。 MLL1 复合体的一部分。与威尔逊-特纳综合征有关。 [由基因组资源联盟提供，2022 年 4 月]

Enables RNA binding activity. Predicted to be involved in maturation of 5.8S rRNA and maturation of LSU-rRNA. Located in membrane. Part of MLL1 complex. Implicated in Wilson-Turner syndrome. [provided by Alliance of Genome Resources, Apr 2022]

LAS1L 基因产物(14)

mRNA Protein Name
NM_001170649.2 NP_001164120.1 ribosomal biogenesis protein LAS1L isoform 2
NM_001170650.2 NP_001164121.1 ribosomal biogenesis protein LAS1L isoform 3
NM_001375328.1 NP_001362257.1 ribosomal biogenesis protein LAS1L isoform 4
NM_001375329.1 NP_001362258.1 ribosomal biogenesis protein LAS1L isoform 5
NM_001375330.1 NP_001362259.1 ribosomal biogenesis protein LAS1L isoform 6
NM_001375331.1 NP_001362260.1 ribosomal biogenesis protein LAS1L isoform 7
NM_001375332.1 NP_001362261.1 ribosomal biogenesis protein LAS1L isoform 8
NM_001375333.1 NP_001362262.1 ribosomal biogenesis protein LAS1L isoform 9
NM_001375334.1 NP_001362263.1 ribosomal biogenesis protein LAS1L isoform 10
NM_001375335.1 NP_001362264.1 ribosomal biogenesis protein LAS1L isoform 10
NM_001375336.1 NP_001362265.1 ribosomal biogenesis protein LAS1L isoform 11
NM_001375337.1 NP_001362266.1 ribosomal biogenesis protein LAS1L isoform 11
NM_001410733.1 NP_001397662.1 ribosomal biogenesis protein LAS1L isoform 12
NM_031206.7 NP_112483.1 ribosomal biogenesis protein LAS1L isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
22046132 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in rRNA processing IDA
IDA: 通过直接分析推断
22083961 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleolus IDA
IDA: 通过直接分析推断
31288032 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

LAS1L 蛋白结构

Las1

Las1: Las1-like (42 - 188)

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

ribosomal biogenesis protein LAS1L

protein LAS1 homolog

LAS1L 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
种属间
LAS1L Q9Y4W2 P0C6X7-PRO_0000037309 Human SARS coronavirus P0C6X7-PRO_0000037309
Lumier
22046132
种属间
LAS1L Q9Y4W2 P0C6X7-PRO_0000037309 Human SARS coronavirus P0C6X7-PRO_0000037309
Y2H Pooling
22046132
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
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome

WTS

Mrxs6

X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome

Mrxswt

Wilson-Turner X-Linked Mental Retardation Syndrome

Mental Retardation, X-Linked, Syndromic 6

Mental Retardation, X-Linked, With Gynecomastia And Obesity

Intellectual Disability, X-Linked, Syndromic 6

Intellectual Disability, X-Linked, With Gynecomastia And Obesity

Wilson Turner Intellectual Disability Syndrome

X-Linked Intellectual Disability - Gynecomastia - Obesity
Spinal Muscular Atrophy With Respiratory Distress Type 2

Diaphragmatic Spinal Muscular Atrophy Type 2

Smard2

Severe Infantile Axonal Neuropathy With Respiratory Failure Type 2

X-Linked Spinal Muscular Atrophy With Respiratory Distress
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Smard1

DSMA1

Sianrf

Dhmn6

Spinal Muscular Atrophy With Respiratory Distress 1

HMN6

Severe Infantile Axonal Neuropathy With Respiratory Failure

Autosomal Recessive Distal Spinal Muscular Atrophy 1

Diaphragmatic Spinal Muscular Atrophy

Spinal Muscular Atrophy With Respiratory Distress Type 1

Neuronopathy, Distal Hereditary Motor, Type Vi

Hmn Vi

Neuronopathy, Severe Infantile Axonal, With Respiratory Failure

Distal Spinal Muscular Atrophy 1

Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress

Distal Hereditary Motor Neuropathy Type 6

Distal-Hmn Type 6

Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1

Spinal Muscular Atrophy, Diaphragmatic

Distal Hereditary Motor Neuronopathy Type Vi

Distal Spinal Muscular Atrophy Type 1

Hmnvi

Spinal Muscular Atrophy With Respiratory Distress

Autosomal Recessive Distal Spinal Muscular Atrophy Type 1

Neuronopathy, Distal Hereditary Motor, 6

Dhmn Vi

Distal Hereditary Motor Neuropathy Type Vi

Severe Infantile Axonal Neuronopathy With Respiratory Failure

Spinal Muscular Atrophy Distal Autosomal Recessive 1

Atrophy, Muscular, Spinal, Distal, Type 1
Autosomal Recessive Distal Hereditary Motor Neuronopathy

Autosomal Recessive Distal Spinal Muscular Atrophy
Mitochondrial Dna Depletion Syndrome 2

Mitochondrial Dna Depletion Syndrome, Myopathic Form

MTDPS2

Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

Mitochondrial Dna Depletion Myopathy, Tk2-Related

Tk2-Related Mitochondrial Dna Depletion Myopathy

Mtdna Depletion Syndrome, Myopathic Form

Mitochondrial Dna Depletion Myopathy Tk2-Related

Mitochondrial Dna Depletion Syndrome 2 Myopathic Type

Myopathic Mitochondrial Dna Depletion Syndrome

Mitochondrial Dna Depletion Syndrome, Type 2
Diaphragmatic Eventration
Spinal Muscular Atrophy, Type I

Werdnig-Hoffmann Disease

SMA1

Spinal Muscular Atrophy 1

Sma I

Sma, Infantile Acute Form

Muscular Atrophy, Infantile

Spinal Muscular Atrophy-1

Hmn Proximal Type I

Infantile Muscular Atrophy

Proximal Spinal Muscular Atrophy Type 1

Sma Type 1

Sma Type I

Sma-I

Hereditary Motor Neuropathy Proximal Type I

Progressive Muscular Atrophy Of Infancy

Proximal Spinal Muscular Atrophy, Type 1

Werdnig Hoffmann Disease

Infantile Spinal Muscular Atrophy

Infantile-Onset Spinal Muscular Atrophy

Proximal Hereditary Motor Neuropathy Type I

Sma Infantile Acute Form

Spinal Muscular Atrophy Type I

Werdnig-Hoffman Disease

Atrophy, Muscular, Spinal, Type 1
Mitochondrial Dna Depletion Syndrome 3

Deoxyguanosine Kinase Deficiency

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

MTDPS3

Dguok Deficiency

Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Dguok-Related Mitochondrial Dna Depletion Syndrome

Hepatocerebral Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome, Hepatocerebral Form

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency

Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive

Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type

Mitochondrial Dna Depletion Syndrome , Type 3
Syndromic Intellectual Disability
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-RS07534 LAS1L Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta LAS1L VGNC VGNC:74126
Rattus norvegicus LAS1L RGD RGD:1565755
Mus musculus LAS1L MGD MGI:1923380
Bos taurus LAS1L VGNC VGNC:30797
Canis familiaris LAS1L VGNC VGNC:42594
Felis catus LAS1L VGNC VGNC:63198
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