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2024-04-20 21:51:21, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_032477 632 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens mitochondrial ribosomal protein L41 (MRPL41), mRNA.
ACCESSION NM_032477
VERSION NM_032477.2 GI:169646343
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 632)
AUTHORS Conde,J.A., Claunch,C.J., Romo,H.E., Benito-Martin,A.,
Ballestero,R.P. and Gonzalez-Garcia,M.
TITLE Identification of a motif in BMRP required for interaction with
Bcl-2 by site-directed mutagenesis studies
JOURNAL J. Cell. Biochem. 113 (11), 3498-3508 (2012)
PUBMED 22711503
REMARK GeneRIF: Apoptosis-inducing ability of wild-type BMRP is blocked by
Bcl-2 through several mechanisms.
REFERENCE 2 (bases 1 to 632)
AUTHORS Malladi,S., Parsa,K.V., Bhupathi,D., Rodriguez-Gonzalez,M.A.,
Conde,J.A., Anumula,P., Romo,H.E., Claunch,C.J., Ballestero,R.P.
and Gonzalez-Garcia,M.
TITLE Deletion mutational analysis of BMRP, a pro-apoptotic protein that
binds to Bcl-2
JOURNAL Mol. Cell. Biochem. 351 (1-2), 217-232 (2011)
PUBMED 21253851
REMARK GeneRIF: region of BMRP required for the interaction with Bcl-2 is
very relevant for the cell death-inducing activity of the protein
REFERENCE 3 (bases 1 to 632)
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 4 (bases 1 to 632)
AUTHORS Kim,M.J., Yoo,Y.A., Kim,H.J., Kang,S., Kim,Y.G., Kim,J.S. and
Yoo,Y.D.
TITLE Mitochondrial ribosomal protein L41 mediates serum
starvation-induced cell-cycle arrest through an increase of
p21(WAF1/CIP1)
JOURNAL Biochem. Biophys. Res. Commun. 338 (2), 1179-1184 (2005)
PUBMED 16256947
REMARK GeneRIF: Overall, these results suggest that MRPL41 arrests the
cell cycle by increasing the p21(WAF1/CIP1) and p27(Kip1) levels
under the growth inhibitory conditions.
REFERENCE 5 (bases 1 to 632)
AUTHORS Yoo,Y.A., Kim,M.J., Park,J.K., Chung,Y.M., Lee,J.H., Chi,S.G.,
Kim,J.S. and Yoo,Y.D.
TITLE Mitochondrial ribosomal protein L41 suppresses cell growth in
association with p53 and p27Kip1
JOURNAL Mol. Cell. Biol. 25 (15), 6603-6616 (2005)
PUBMED 16024796
REMARK GeneRIF: mitochondrial ribosomal protein L41 (MRPL41) is localized
in the mitochondria, stabilizes the p53 protein, and enhances its
translocation to the mitochondria, thereby inducing apoptosis.
REFERENCE 6 (bases 1 to 632)
AUTHORS Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
Dunham,I.
TITLE DNA sequence and analysis of human chromosome 9
JOURNAL Nature 429 (6990), 369-374 (2004)
PUBMED 15164053
REFERENCE 7 (bases 1 to 632)
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 8 (bases 1 to 632)
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 9 (bases 1 to 632)
AUTHORS Kenmochi,N., Suzuki,T., Uechi,T., Magoori,M., Kuniba,M., Higa,S.,
Watanabe,K. and Tanaka,T.
TITLE The human mitochondrial ribosomal protein genes: mapping of 54
genes to the chromosomes and implications for human disorders
JOURNAL Genomics 77 (1-2), 65-70 (2001)
PUBMED 11543634
REFERENCE 10 (bases 1 to 632)
AUTHORS Goldschmidt-Reisin,S., Kitakawa,M., Herfurth,E.,
Wittmann-Liebold,B., Grohmann,L. and Graack,H.R.
TITLE Mammalian mitochondrial ribosomal proteins. N-terminal amino acid
sequencing, characterization, and identification of corresponding
gene sequences
JOURNAL J. Biol. Chem. 273 (52), 34828-34836 (1998)
PUBMED 9857009
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AI091177.1 and BC040035.1.
On Mar 7, 2008 this sequence version replaced gi:21265092.
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 that belongs to
the YmL27 ribosomal protein family. [provided by RefSeq, Jul 2008].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC040035.1, BE387384.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [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
1-25 AI091177.1 1-25
26-632 BC040035.1 1-607
FEATURES Location/Qualifiers
source 1..632
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9q34.3"
gene 1..632
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/note="mitochondrial ribosomal protein L41"
/db_xref="GeneID:64975"
/db_xref="HGNC:14492"
/db_xref="HPRD:14760"
/db_xref="MIM:611846"
exon 1..122
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/inference="alignment:Splign:1.39.8"
variation 49
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="g"
/db_xref="dbSNP:147383075"
exon 123..604
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/inference="alignment:Splign:1.39.8"
CDS 131..544
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/note="proliferation-inducing gene 3; L41mt; MRP-L41;
MRP-L27 homolog; 39S ribosomal protein L27 homolog; cell
proliferation-inducing gene 3 protein; bcl-2-interacting
mitochondrial ribosomal protein L41"
/codon_start=1
/product="39S ribosomal protein L41, mitochondrial"
/protein_id="NP_115866.1"
/db_xref="GI:21265093"
/db_xref="CCDS:CCDS7046.1"
/db_xref="GeneID:64975"
/db_xref="HGNC:14492"
/db_xref="HPRD:14760"
/db_xref="MIM:611846"
/translation="
MGVLAAAARCLVRGADRMSKWTSKRGPRSFRGRKGRGAKGIGFLTSGWRFVQIKEMVPEFVVPDLTGFKLKPYVSYLAPESEETPLTAAQLFSEAVAPAIEKDFKDGTFDPDNLEKYGFEPTQEGKLFQLYPRNFLR
"
misc_feature 167..511
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/note="Mitochondrial ribosomal protein L27; Region:
MRP-L27; pfam09809"
/db_xref="CDD:150473"
variation 155
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="t"
/db_xref="dbSNP:369439866"
variation 224
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="g"
/replace="t"
/db_xref="dbSNP:373518805"
variation 230
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="c"
/db_xref="dbSNP:13783"
variation 263
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="t"
/db_xref="dbSNP:113973456"
variation 264
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="t"
/db_xref="dbSNP:150240805"
variation 270
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="g"
/db_xref="dbSNP:138900488"
variation 277
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="g"
/replace="t"
/db_xref="dbSNP:372992526"
variation 286
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="g"
/replace="t"
/db_xref="dbSNP:376218719"
variation 304
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="g"
/db_xref="dbSNP:149264137"
variation 310
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="c"
/db_xref="dbSNP:12834"
variation 327
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="c"
/db_xref="dbSNP:369261664"
variation 330
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="g"
/db_xref="dbSNP:373363781"
variation 391
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="g"
/db_xref="dbSNP:377765182"
variation 393
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="t"
/db_xref="dbSNP:11555676"
variation 400
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="g"
/db_xref="dbSNP:375117989"
variation 403
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="g"
/db_xref="dbSNP:1048370"
variation 453
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="t"
/db_xref="dbSNP:11555677"
STS 456..601
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/standard_name="STS-N29354"
/db_xref="UniSTS:38797"
variation 461
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="t"
/db_xref="dbSNP:137860981"
variation 470
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="g"
/db_xref="dbSNP:142341993"
variation 476
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="g"
/db_xref="dbSNP:148438754"
variation 481
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="c"
/db_xref="dbSNP:370912260"
variation 492
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="t"
/db_xref="dbSNP:199842194"
variation 494
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="g"
/db_xref="dbSNP:34976548"
variation 495..496
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:3210506"
variation 500
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="t"
/db_xref="dbSNP:1048125"
variation 509
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="g"
/db_xref="dbSNP:145954367"
variation 513
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="t"
/db_xref="dbSNP:11555678"
variation 527..528
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="g"
/db_xref="dbSNP:11555674"
variation 551
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="g"
/db_xref="dbSNP:4551"
variation 552
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2298170"
variation 555
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="g"
/db_xref="dbSNP:372622422"
variation 568..569
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="c"
/db_xref="dbSNP:3087666"
variation 579
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="t"
/db_xref="dbSNP:373713958"
polyA_signal 584..589
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
variation 593
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="t"
/db_xref="dbSNP:142553175"
variation 602
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="t"
/db_xref="dbSNP:14450"
polyA_site 603
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
variation 603
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="c"
/replace="g"
/db_xref="dbSNP:17352175"
variation 604
/gene="MRPL41"
/gene_synonym="BMRP; MRP-L27; MRPL27; PIG3; RPML27"
/replace="a"
/replace="c"
/db_xref="dbSNP:17352182"
ORIGIN
gcggccgcggccaatcggagccgctcttgctgcgacgcagcggtcggaagcggagcaaggtcgaggccgggttggcgccggagccggggccgcttggagctcgtgtggggtctccggtccagggcgcggcatgggcgtcctggccgcagcggcgcgctgcctggtccggggtgcggaccgaatgagcaagtggacgagcaagcggggcccgcgcagcttcaggggccgcaagggccggggcgccaagggcatcggcttcctcacctcgggctggaggttcgtgcagatcaaggagatggtcccggagttcgtcgtcccggatctgaccggcttcaagctcaagccctacgtgagctacctcgcccctgagagcgaggagacgcccctgacggccgcgcagctcttcagcgaagccgtggcgcctgccatcgaaaaggacttcaaggacggtaccttcgaccctgacaacctggaaaagtacggcttcgagcccacacaggagggaaagctcttccagctctaccccaggaacttcctgcgctagctgggcgggggaggggcggcctgccctcatctcatttctattaaacgcctttgccagctaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:64975 -> Molecular function: GO:0003735 [structural constituent of ribosome] evidence: IDA
GeneID:64975 -> Biological process: GO:0006412 [translation] evidence: IDA
GeneID:64975 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:64975 -> Biological process: GO:0007049 [cell cycle] evidence: IEA
GeneID:64975 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA
GeneID:64975 -> Cellular component: GO:0005762 [mitochondrial large ribosomal subunit] evidence: IDA
GeneID:64975 -> Cellular component: GO:0030529 [ribonucleoprotein complex] evidence: IDA
by
@meso_cacase at
DBCLS
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