LAS1L - LAS1 like ribosome biogenesis factor Gene

Also Known as WTS; Las1; MRXSWTS; Las1-like; dJ475B7.2

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 81887

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
22046132 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in rRNA processing IDA
IDA: Inferred from direct assay
22083961 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in nucleolus IDA
IDA: Inferred from direct assay
31288032 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LAS1L Protein Structure

Las1

Las1: Las1-like (42 - 188)

  • 0
  • 200
  • 400
  • 600
  • 734 a.a.
Protein Preferred Names Protein Names

ribosomal biogenesis protein LAS1L

  • protein LAS1 homolog

LAS1L Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Cross
LAS1L Q9Y4W2 P0C6X7-PRO_0000037309 Human SARS coronavirus P0C6X7-PRO_0000037309
Lumier
22046132
Cross
LAS1L Q9Y4W2 P0C6X7-PRO_0000037309 Human SARS coronavirus P0C6X7-PRO_0000037309
Y2H Pooling
22046132
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS07534 LAS1L Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others LAS1L NCBI