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

LAS1L - LAS1 like ribosome biogenesis factor Gene

Homo sapiens

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

Gene ID: 81887 | Gene type: protein coding

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

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

Related Diseases

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

Orthologs Information

Species Symbol Source 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