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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for MRPL40 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 64976 Official gene symbol MRPL40 Full name mitochondrial ribosomal protein L40 Aliases ,FLJ41774,MGC9400,MRP-L22,NLVCF,URIM, 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] Location Chromosome: 22   Locus: 22q11.21 Gene position 19420036 - 19423598  Map Viewer Gene orientation plus Gene size 3563 bp Gene sequence >MRPL40:2572186..2575748:Length=3563 GGACTGTGGAGGGGCGCACGCCCGGAAGCGGCGAGGGTAGCCATGACGGCCTCCGTGCTG CGAAGTATCTCGCTAGCCCTGCGCCCGACTAGCGGGTGAGTGCGGACGCTGGCCGGATAG CGGAGTGCCCAGGGCGCGTGCGGGGTCTTCGCGACTGTCCGCCAGGACTCGCCTGTGCTC CCTGCTCGCCTCCCAGTCCACGAATATCTCAGGGATGAGCCATCTGGTCGTGACTCTTAT GCATGAAAATCTGAGCACCCTGGCGAGCAGCGGTCCTGCTTAAGTCCTCTGTGGTCTGAA CGAAAGATTTTGAAAAACCTTCCACGTTGACCTTGCTGTCATATCAAGTAGTTAGAAGTG CCCCGGGTTTGGGAGCATTGCAATTTTTTATTTTCCTGTGAAGTGGGAGAGAATCAGATA TTTATTTATTTATTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC GATTTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAGTTCTGCCCCGGCCTCCCG AGTAGCTCGGATTACAGGCGCCCAACACCACGCCCGGCTAATTTTTGTATTTTTAGTAGA GACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGCGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCAACCGCGCCTAGCCTGGAGAAG CAGATATTTATACATACTCTTGTATCTTTCAGGCTTCTGGGAACTTGGCAGACGCAGCTT AGAGAGACTCACCAGCGAGCGTCATTGTTGTCTTTCTGGGAACTCATTCCCATGAGGTAA AACTCAATCGAGGGCCTGACCTCTGGGGGTAAAGGTGTCAGTCTATGTGTAGAGAACAAA GCAAGAATGCTGGATGTGTGGTTTGCAAAATTAACAGCCTACAAAGTTTCTCAGTTAAAT TTAGGCCGATGCTTTTCTGTTTTTCCAACATTTTCCAAACCATAGATTGTTGTTTGTAAT TTTTAAAATTTGAGCAGTTTCTCAAGAAGTAAGTATTCTCCTTGAAGGGATTCTTGTGTG TTTTAAAGGACACAGCTTAAGTTTCTGTTTCTCCATGACCCTTCCTCTTCCCTGCCCATT CGGAGGCCCTGGAGAGTGTGGGGAAGATGCAAGTATTAAAGGTATTTCCATCTGGCACTC TCGACTCTTTGTAGATACTTGATTCAGTCAATCTTGATAGTAAAGGATTTGATTTTTCTT TTTTTTTTGAGATGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGTGTGACCTCG GATCACTGCAACCTTCGCCTCCTGGGTTAAACTAATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGCGCCCACTACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAGACG GGGTTTCACCATGTTGGATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCC ACCCACCTCAGCACCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCACCCAGTCCACA AATCAATTTTAATAGTAATAAGCTTCTAATCTAACAGTTTGGTATTTTCACTTTTGAGTG TAATCCCAAGGCACACCTGAATCCCAGCAATAAAGAGGAACACTTCCCGATTTTATACCC TGATGCCTCTTGTTGCTTTTGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCT CGCTCTGTTACCCAAGCTGGAGTGCAGTGGCGCGATCTTGTCCTACTGCAACCTCCGCCT CCCAGGCTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGAAGCTGGGATTACAGGTGCGCA CCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGACCA GGCTGGTCTCGAACTCCTGACCTTGGGCAATCTGCCCGCCTTTGCCTCCCAAAGTGCTGG GATTACAGGCCTGAGCCACTGCACCCGGCTGCTTTTGTACTATTTCTTGTAATTGATGGC ACCTACACAGTTCTCACAAGTACTGTGGGGTGGAGTACCTCCTCACCACGCTGAGCTCAT GAGTTAGTCATGCACAGCTCCTTCCCCCAGTGGAGAGGTCAGTATGGGGTACTTACCATC TTGTCTCTCAGTAGGTTCATGAGACCAAAGAGGAAAATGTTTAATATTTGCTTTATCTAT TAGATCAGAACCTCTTCGAAAAAAGAAGAAGGTAGATCCTAAAAAAGACCAAGAAGCAAA GGAGCGCTTGAAAAGGAAGATCCGAAAACTGGAAAAGGCTACTCAAGAGCTAATTCCTAT TGAAGATTTTATTACCCCTCTAAAGTTCTTGGATAAAGCAAGGTAAGGATCCTTCTCTAG GGATGAAGTCCTCAGGACAAAGGAGTAATATCAACTTCAGGTAGTTGTGTCTGTAGTTCA CACCTGTGATAGTCATTGGTCAGTAGGCTTGAGCTGACTTGGCCCTAATGAGTCCTTGCT CCTTTTGGAAGCAGGAGAAAGCATCCTTGGGTGGTACTCTTGAATGGCTCTGGGTGGGAA AGAACCTAAGACATCTAATAATCCAGATGCTTAAGCACTGCTCTGGAGTTCATGTTGTTG CTGTCATGCATGAGGAGTCTTGGCTGTTTCTGATCCCTTGGGCCTGGAGTCTGAAGCCCT CGCCTCATCCTAACAGTAGAAAACCCTTGGCCTCCTGTTTTATCATGCAGATATCTTTGG TTGGTATTTGTTGGGATTCTACTGTGTGCAGGGTTAACAGCTCCTGCTGCCGTTTTGTAA GCAGTGTGCACCATCTATAAAGGGGCAGGTGTTAAAAGTCTTCTCTCACCCAAGGGAGTA TTTGCTTGGGCAGAGGAAGTGCTACCAGTCTCCTCAGATCATCTGTTCTTTTGACAGAGA GCAAATGACCTTGGTTCCAAGCATCAGTTGCAGCTGCAGCCACATTCAACATTCCATTTC TTAATTTGTCCCAAACTTGTTTTATCTCCTAAGTCCTGTCTGTGTCTGGCAATGGGAATA CTTGTGTCAGTTGCAGTCACAGACTTACATGCCAGTGAGATTGGTAACCCTTAGCTTCTT TGCAGAGAGCGGCCTCAGGTGGAGCTCACCTTTGAGGAGACTGAGAGGAGAGCTCTGCTT CTGAAGAAGTGGTCCTTGTACAAGCAGCAAGAGCGTAAGATGGAGAGGGACACCATCAGG GCTATGCTAGAAGCCCAGCAGGAAGCTCTGGAGGAACTGCAACTGGAATCCCCGAAGCTC CATGCTGAGGCCATCAAGCGGGATCCTAACCTGTTCCCCTTTGAGAAGGAAGGGCCACAT TACACACCACCGATCCCTAACTACCAACCCCCTGAAGGCAGGTACAATGACATCACCAAG GTGTACACACAAGTGGAGTTTAAGAGATAGACTTGCAGGCTGCTATCCTTAACATGCTGC CCCTGAGAGTAGGAATGACCAGGGTTCAAGTCTGCTTTCCACAGAATCAGGCATGCTGTT AATAAATACTGGTTTAATCAAAA OMIM ID 605089