Homo sapiens Gene: MRPL40
Summary
InnateDB Gene IDBG-1346.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MRPL40
Gene Name mitochondrial ribosomal protein L40
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000185608
Encoded Proteins
mitochondrial ribosomal protein L40
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:19431902-19436075
Strand Forward strand
Band q11.21
Transcripts
ENST00000333130 ENSP00000333401
ENST00000443660
ENST00000471259
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 42 experimentally validated interaction(s) in this database.
Experimentally validated
Total 42 [view]
Protein-Protein 40 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0044822 poly(A) RNA binding
Biological Process
GO:0009653 anatomical structure morphogenesis
Cellular Component
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005739 mitochondrion
GO:0005761 mitochondrial ribosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Organelle biogenesis and maintenance pathway
Mitochondrial translation pathway
Mitochondrial translation initiation pathway
Mitochondrial translation termination pathway
Mitochondrial translation elongation pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q9NQ50
TrEMBL
UniProt Splice Variant
Entrez Gene 64976
UniGene Hs.431307
RefSeq NM_003776
HUGO HGNC:14491
OMIM 605089
CCDS CCDS13760
HPRD
IMGT
EMBL AF034091 AJ295637 AK123768 BC009707 CH471176 CR456532
GenPept AAC70904 AAH09707 BAG53959 CAC00535 CAG30418 EAX03042
RNA Seq Atlas 64976