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2020-10-26 19:51:42, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_022163               1020 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), mRNA.
ACCESSION   NM_022163
VERSION     NM_022163.3  GI:169658372
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1020)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS ONE 5 (9), E12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1020)
  AUTHORS   Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
            Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
            McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
            Dunham,I., Hill,D.E. and Vidal,M.
  TITLE     hORFeome v3.1: a resource of human open reading frames representing
            over 10,000 human genes
  JOURNAL   Genomics 89 (3), 307-315 (2007)
   PUBMED   17207965
REFERENCE   3  (bases 1 to 1020)
  AUTHORS   Zhang,Z. and Gerstein,M.
  TITLE     Identification and characterization of over 100 mitochondrial
            ribosomal protein pseudogenes in the human genome
  JOURNAL   Genomics 81 (5), 468-480 (2003)
   PUBMED   12706105
REFERENCE   4  (bases 1 to 1020)
  AUTHORS   Koc,E.C., Burkhart,W., Blackburn,K., Moyer,M.B., Schlatzer,D.M.,
            Moseley,A. and Spremulli,L.L.
  TITLE     The large subunit of the mammalian mitochondrial ribosome. Analysis
            of the complement of ribosomal proteins present
  JOURNAL   J. Biol. Chem. 276 (47), 43958-43969 (2001)
   PUBMED   11551941
REFERENCE   5  (bases 1 to 1020)
  AUTHORS   Carim-Todd,L., Sumoy,L., Andreu,N., Estivill,X. and Escarceller,M.
  TITLE     Cloning, mapping and expression analysis of C15orf4, a novel human
            gene with homology to the yeast mitochondrial ribosomal protein
            Ym130 gene
  JOURNAL   DNA Seq. 12 (2), 91-96 (2001)
   PUBMED   11761714
  REMARK    GeneRIF: Expression is enriched in testis.  Positioned to
            chromosome 15q24 by radiation hybrid mapping.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN309742.1, BC017883.1 and
            AF210056.1.
            On Mar 7, 2008 this sequence version replaced gi:26667176.
            
            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. [provided by
            RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF210056.1, BC017883.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                CN309742.1         42-55
            15-597              BC017883.1         1-583
            598-1020            AF210056.1         584-1006
FEATURES             Location/Qualifiers
     source          1..1020
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.3"
     gene            1..1020
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /note="mitochondrial ribosomal protein L46"
                     /db_xref="GeneID:26589"
                     /db_xref="HGNC:1192"
                     /db_xref="HPRD:14765"
                     /db_xref="MIM:611851"
     exon            1..253
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(1)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377423261"
     CDS             26..865
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /note="L46mt; MRP-L46"
                     /codon_start=1
                     /product="39S ribosomal protein L46, mitochondrial"
                     /protein_id="NP_071446.2"
                     /db_xref="GI:26667177"
                     /db_xref="CCDS:CCDS10341.1"
                     /db_xref="GeneID:26589"
                     /db_xref="HGNC:1192"
                     /db_xref="HPRD:14765"
                     /db_xref="MIM:611851"
                     /translation="
MAAPVRRTLLGVAGGWRRFERLWAGSLSSRSLALAAAPSSNGSPWRLLGALCLQRPPVVSKPLTPLQEEMASLLQQIEIERSLYSDHELRALDENQRLAKKKADLHDEEDEQDILLAQDLEDMWEQKFLQFKLGARITEADEKNDRTSLNRKLDRNLVLLVREKFGDQDVWILPQAEWQPGETLRGTAERTLATLSENNMEAKFLGNAPCGHYTFKFPQAMRTESNLGAKVFFFKALLLTGDFSQAGNKGHHVWVTKDELGDYLKPKYLAQVRRFVSDL
"
     misc_feature    158..448
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /note="39S mitochondrial ribosomal protein L46; Region:
                     MRP-L46; pfam11788"
                     /db_xref="CDD:192831"
     misc_feature    455..850
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /note="Mitochondrial ribosomal protein L46 (MRP L46) is a
                     component of the large subunit (39S) of the mammalian
                     mitochondrial ribosome and a member of the Nudix hydrolase
                     superfamily. MRPs are thought to be involved in the
                     maintenance of the mitochondrial DNA; Region: MRP_L46;
                     cd04661"
                     /db_xref="CDD:72898"
     misc_feature    551..619
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /note="modified nudix motif"
                     /db_xref="CDD:72898"
     misc_feature    713..715
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine; propagated from
                     UniProtKB/Swiss-Prot (Q9H2W6.1); acetylation site"
     variation       complement(78)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:373957719"
     variation       complement(80)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:76585878"
     variation       complement(97)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:111338645"
     variation       complement(129)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:139502130"
     variation       complement(132)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:74858286"
     variation       complement(139)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368751322"
     variation       complement(156)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142197784"
     variation       complement(162)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:112650205"
     variation       complement(182)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:150657556"
     variation       complement(202)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141692601"
     variation       complement(209)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201272217"
     variation       complement(227)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147896985"
     exon            254..440
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(293)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367612805"
     variation       complement(294)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199889183"
     variation       314
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:193920884"
     variation       complement(318)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374021666"
     variation       complement(341)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:16941888"
     variation       complement(375)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370331764"
     variation       complement(376)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:114017694"
     variation       complement(414)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376310802"
     variation       complement(415)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:371875842"
     variation       complement(431)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146169028"
     exon            441..614
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(462)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376377439"
     variation       complement(476)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:16941885"
     variation       complement(499)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147619280"
     variation       complement(510)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373935522"
     variation       complement(530)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:369179967"
     variation       complement(546)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201113766"
     variation       complement(578)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150383187"
     variation       complement(593)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377122463"
     variation       complement(594)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:186797200"
     variation       complement(598)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:17851578"
     variation       complement(599)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141301857"
     exon            615..1000
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(618)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:149923755"
     variation       complement(633)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368264703"
     variation       complement(680)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367735118"
     variation       complement(686)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373706267"
     variation       complement(689)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140277766"
     variation       complement(706)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:151073015"
     STS             733..1001
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /standard_name="RH11341"
                     /db_xref="UniSTS:65172"
     variation       complement(752)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:113945322"
     variation       complement(765)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142867191"
     STS             778..968
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /standard_name="SHGC-132199"
                     /db_xref="UniSTS:170707"
     STS             783..912
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /standard_name="D15S1261"
                     /db_xref="UniSTS:67606"
     variation       complement(796)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370588577"
     variation       complement(806)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367961608"
     variation       complement(815)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139566642"
     variation       complement(821)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:146290179"
     variation       complement(835)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201666039"
     variation       complement(839)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:77140264"
     variation       complement(868)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374391162"
     variation       complement(870)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:111529644"
     variation       complement(887)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199893975"
     variation       complement(914)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371261839"
     polyA_signal    981..986
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
     polyA_site      1000
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
     variation       complement(1000)
                     /gene="MRPL46"
                     /gene_synonym="C15orf4; LIECG2; P2ECSL"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:151250709"
ORIGIN      
gcggtgcattgtgggagaacgaaagatggcggcgcccgtaaggcggacgctgttaggggtggcggggggttggcggcggttcgagaggctctgggccggcagtctaagctctcgcagcctggctcttgcagccgcaccctcaagcaacggatccccatggcgcttgttgggcgcgttgtgcctgcagcggccacctgtagtctccaagccgttgaccccattgcaggaagagatggcgtctctactgcagcagattgagatagagagaagcctgtattcagaccacgagcttcgtgctctggatgaaaaccagcgactggcaaagaagaaagctgaccttcatgatgaagaagatgaacaggatatattgctggcgcaagatttggaagatatgtgggagcagaaatttctacagttcaaacttggagctcgcataacagaagctgatgaaaagaatgaccgaacatccctgaacaggaagctagacaggaaccttgtcctgttagtcagagagaagtttggagaccaggatgtttggatactgccccaggcagagtggcagcctggggagacccttcgaggaacagctgaacgaaccctggccacactctcagaaaacaacatggaagccaagttcctaggaaatgcaccctgtgggcactacacattcaagttcccccaggcaatgcggacagagagtaacctcggagccaaggtgttcttcttcaaagcactgctattaactggagacttttcccaggctgggaataagggccatcatgtgtgggtcactaaggatgagctgggtgactatttgaaaccaaaatacctggcccaagttaggaggtttgtttcagacctctgatgggccgagctgcctgtggacggtgctcagacaagtctgggattagagcctcaaggacattgtgtgattgcctcacatttgcaggtaatatcaagcagcaaactaaattctgagaaataaacgagtctattactgaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:26589 -> Molecular function: GO:0003674 [molecular_function] evidence: ND
            GeneID:26589 -> Molecular function: GO:0016787 [hydrolase activity] evidence: IEA
            GeneID:26589 -> Biological process: GO:0008150 [biological_process] evidence: ND
            GeneID:26589 -> Cellular component: GO:0005575 [cellular_component] evidence: ND
            GeneID:26589 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA
            GeneID:26589 -> Cellular component: GO:0005840 [ribosome] evidence: IEA

by @meso_cacase at DBCLS
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