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Mrpl40 Gene Detail
Summary
  • Symbol
    Mrpl40
  • Name
    mitochondrial ribosomal protein L40
  • Synonyms
    Nlvcf
  • Feature Type
    protein coding gene
  • IDs
    MGI:1332635
    NCBI Gene: 18100
  • Gene Overview
    MyGene.info: MRPL40
Location & Maps
more
  • Sequence Map
    Chr16:18872018-18876767 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4750 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 11.69 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    MRPL40, mitochondrial ribosomal protein L40
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MRPL40, mitochondrial ribosomal protein L40
    Orthology source: HGNC, HomoloGene
  • Synonyms
    L40mt, MRPL22, MRP-L22, MRP-L40, NLVCF, URIM
  • Links
    NCBI Gene ID: 64976
    neXtProt AC: NX_Q9NQ50

  • Chr Location
    22q11.2; chr22:19432513-19436077 (+)  GRCh38.p2

Human Diseases
less
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotype references
  • All Mutations and Alleles
    40
  • Gene trapped
    33
  • Targeted
    7
  • Genomic Mutations
    4 involving Mrpl40
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026128 VEGA Gene Model | MGI Sequence Detail 4750 C57BL/6J ±  kb
transcript OTTMUST00000064524 VEGA | MGI Sequence Detail 1185 Not Applicable  
polypeptide OTTMUSP00000032062 VEGA | MGI Sequence Detail 206 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    14 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000010601 39S ribosomal protein L40, mitochondrial
  • InterPro Domains
    IPR019192 Ribosomal protein L28/L40, mitochondrial
Molecular
Reagents
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  • All nucleic 59
    Genomic 10
    cDNA 47
    Primer pair 2

    Microarray probesets 3
References
more
  • Summaries
    All 42
    Developmental Gene Expression 6
    Diseases 9
    Gene Ontology 6
    Phenotypes 30
  • Earliest
    J:50534 Funke B, et al., Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11. Genomics. 1998 Oct 15;53(2):146-54
  • Latest
    J:213451 Karpinski BA, et al., Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome. Dis Model Mech. 2014 Feb;7(2):245-57

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory