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FLASH GENE
Symbol MRPL40 contributors: - updated : 16-12-2005
HGNC name mitochondrial ribosomal protein L40
HGNC id 14491
Location 22q11.2      Physical location : 19.420.035 - 19.423.594
Synonym name 39S ribosomal protein L40, mitochondrial precursor
Synonym symbol(s) URIM, NLVCF, MGC9400, MRP-L22
DNA
TYPE functioning gene
STRUCTURE 4.00 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
PEX26 22q11.21 peroxisome biogenesis factor 26 TUBA8 22q11 tubulin, alpha 8 USP18 22q11.21 ubiquitin specific protease 18 LOC391291 22 LOC391291 LOC388844 22 hypothetical gene supported by AK097777; AK128837; AK129567; BC040613 LOC220522 22q11.21 similar to Gamma-glutamyltranspeptidase 1 precursor (Gamma-glutamyltransferase 1) (CD224 antigen) LOC391292 22 similar to immunoglobulin superfamily, member 3; immunoglobin superfamily, member 3 LOC386610 22q11.21 E2F transcription factor 6 pseudogene LOC388845 22 LOC388845 LOC388846 22 similar to hypothetical protein DKFZp434P211.1 - human (fragments) LOC388847 22 similar to breakpoint cluster region isoform 1 LOC391293 22 LOC391293 LOC388848 22 LOC388848 DGCR6 22q11.21 DiGeorge syndrome critical region gene 6 PRODH 22q11.21 proline dehydrogenase (oxidase) 1 DGCR5 22q11 DiGeorge syndrome critical region gene 5 (non-coding) LOC391294 22 similar to POM121 membrane glycoprotein-like 1 LOC343830 22q11.21 similar to carbonic anhydrase XV DGCR2 22q11.21 DiGeorge syndrome critical region gene 2 LOC391295 22 similar to serine/threonine kinase FKSG81; spermiogenesis associated 4 STK22B 22q11.2 serine/threonine kinase 22B (spermiogenesis associated) DGCR14 22q11.21 DiGeorge syndrome critical region gene 14 GSCL 22q11.21 goosecoid-like SLC25A1 22q11.21 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 CLTCL1 22q11.21 clathrin, heavy polypeptide-like 1 HIRA 22q11.21-q11.23 HIR histone cell cycle regulation defective homolog A (S. cerevisiae) MRPL40 22q11.2 mitochondrial ribosomal protein L40 LOC128977 22q11.21 hypothetical protein LOC128977 UFD1L 22q11.21 ubiquitin fusion degradation 1-like CDC45L 22q11.2 CDC45 cell division cycle 45-like (S. cerevisiae) CLDN5 22q11.21 claudin 5 (transmembrane protein deleted in velocardiofacial syndrome) PNUTL1 22q11.21 peanut-like 1 (Drosophila) GP1BB 22q11.21 glycoprotein Ib (platelet), beta polypeptide LOC391296 22 similar to contains similarity to cell wall-plasma membrane linker protein~gene_id:MKA23.5 TBX1 22q11.21 T-box 1 GNB1L 22q11.2 guanine nucleotide binding protein (G protein), beta polypeptide 1-like FLJ21125 22q11.21 hypothetical protein FLJ21125 TXNRD2 22q11.21 thioredoxin reductase 2 COMT 22q11.2 catechol-O-methyltransferase ARVCF 22q11.21 armadillo repeat gene deletes in velocardiofacial syndrome DKFZp761P1121 22q11.21 hypothetical protein DKFZp761P1121 DGCR8 22q11.2 DiGeorge syndrome critical region gene 8 HTF9C 22q11.2 DiGeorge syndrome critical region gene 8 RANBP1 22q11.21 RAN binding protein 1 ZDHHC8 22q11.1 zinc finger, DHHC domain containing 8 LOC388849 22 LOC388849 FLJ32575 22q11.21 hypothetical protein FLJ32575 RTN4R 22q11.21 reticulon 4 receptor
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel    
Digestivemouthtongue   
 pancreas exocrine    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular    
cell lineage
cell lines
fluid/secretion blood
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to murine Mrpl40
ortholog to rattus mrpl40
Homologene
FAMILY
CATEGORY structural protein , RNA associated
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,matrix
text mitochondrial ribosome
basic FUNCTION
  • mitochondrial proteins biosynthesis
  • ribosomal structure and biogenesis
  • CELLULAR PROCESS protein, translation/synthesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of the large subunit (39S) of the mitochondrial ribosome, including two RNA molecules and, at least,70 MRPs among which 47 proteins for the large subunit
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS