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2025-05-09 16:39:15, 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 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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