MRPL48 Gene
protein-coding GIFtS: 49
GCID: GC11P073498
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mitochondrial ribosomal protein L48
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Aliases
for MRPL48 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mitochondrial Ribosomal Protein L481 2 | | HSPC2902 | | MRP-L482 3 | | L48MT2 | | CGI-1181 | | L48mt3 | | 39S Ribosomal Protein L48, Mitochondrial2 | | |
Export aliases for MRPL48 gene to outside databasesPrevious GC identifers: GC11P075826 GC11P075038 GC11P073721 GC11P073225 GC11P073176 GC11P069795 |
Summaries
for MRPL48 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MRPL48:
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within themitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. Theyhave 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 inbiochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein.A pseudogene corresponding to this gene is found on chromosome 6p. (provided by RefSeq, Jul 2008)
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Genomic Views
for MRPL48 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_167190.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MRPL48 gene promoter:
RelA NF-E2 p45 Nkx5-1 NF-kappaB POU3F2 CREB POU2F1a NF-E2 NF-kappaB1 RSRFC4
Other transcription factors
Search SABiosciences Chromatin IP Primers for MRPL48
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPL48 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11q13.4 Ensembl cytogenetic band: 11q13.4 HGNC cytogenetic band: 11q13.4MRPL48 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11P073498: view genomic region
(about GC identifiers)
Start:
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73,498,361 bp from pter |
End:
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73,576,178 bp from pter |
Size:
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77,818 bases |
Orientation:
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plus strand |
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Proteins
for MRPL48 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: RM48_HUMAN, Q96GC5 (See
protein sequence)Recommended Name: 39S ribosomal protein L48, mitochondrial precursor Size: 212 amino acids; 23935 Da
Subunit: Interacts with OXA1L (By similarity)
Subcellular location: Mitochondrion (By similarity)
Sequence caution: Sequence=AAF28968.1; Type=Erroneous initiation;
Secondary accessions: Q49AK7 Q4U2Q4 Q9P091 Q9Y5J0Explore the universe of human proteins at neXtProt for MRPL48: NX_Q96GC5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96GC5
MRPL48 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_057139.1
ENSEMBL proteins: ENSP00000308717 ENSP00000445111 ENSP00000441925 ENSP00000444441 ENSP00000442146 ENSP00000439632 ENSP00000399076 ENSP00000439573 ENSP00000381497 ENSP00000443685 ENSP00000446144 ENSP00000442878 ENSP00000321539 ENSP00000442783
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
MRPL48 for ontologies About GeneDecksing
MRPL48 Antibody Products:
Assay Products for MRPL48: |
Protein
Domains /
Families
for MRPL48 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MRPL48 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q96GC5ProtoNet protein and cluster: Q96GC5 |
Function
for MRPL48 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MRPL48 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MRPL48
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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| |  | GenScript: all cDNA clones in your preferred vector: MRPL48 (NM_016055) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MRPL48 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRPL48 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPL48 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003735 | structural constituent of ribosome |
IEA | -- | | GO:0005515 | protein binding |
IPI | -- |
MRPL48 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for MRPL48:
|
Pathways & Interactions
for MRPL48 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MRPL48
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
5/233 Interacting proteins for MRPL48 (Q96GC52, 3 ENSP000003087174) via UniProtKB, MINT, STRING, and/or I2D (see all 233)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006412 | translation |
IEA | -- |
MRPL48 for ontologies About GeneDecksing
|
Drugs & Compounds
for MRPL48 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for MRPL48
Search CenterWatch for drugs/clinical trials and news about MRPL48 / RM48
|
Transcripts
for MRPL48 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MRPL48 gene (2 alternative transcripts): NM_016055.5 NM_001030046.1 Unigene Cluster for MRPL48: Mitochondrial ribosomal protein L48 Hs.503239 [show with all ESTs]Unigene Representative Sequence: AK29774615 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000310614(uc001ouh.4) ENST00000508278 ENST00000540162 ENST00000544140
ENST00000544819 ENST00000497094 ENST00000411840(uc009ytt.3) ENST00000535277
ENST00000398483 ENST00000542303 ENST00000537007 ENST00000543058 ENST00000543374
ENST00000314282 ENST00000535529(uc010rri.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MRPL48 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MRPL48
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MRPL48 (NM_016055) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MRPL48 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRPL48 |
Additional cDNA sequence: AF151876.1 AF161408.1 AK297746.1 AK310005.1 BC009764.1 9 DOTS entries: DT.446342 DT.100787457 DT.97858943 DT.40117194 DT.95172405 DT.120689238 DT.100787461 DT.95172404 DT.40211174 24/243 AceView cDNA sequences (see all 243): T40683 BQ009933 BU681867 BU630181 AW841954 AI863229 BM982667 CF529680 AI478426 AA417991 AA824602 AA761769 BU609022 BU608614 AA602637 AA505081 BM999314 AA715109 BM128021 BM817807 AI655876 BU662575 AI865927 AI651830
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for MRPL48 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b |
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| SP1: | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | - | | - | | | | | | | |
ECgene alternative splicing isoforms for MRPL48
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Expression
for MRPL48 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MRPL48 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCAGCAGTGG
About this image
See MRPL48 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MRPL48
SOURCE GeneReport for Unigene cluster: Hs.503239
SABiosciences Custom PCR Arrays for MRPL48
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MRPL48
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MRPL48 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MRPL48 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MRPL48 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPL48 |
Orthologs
for MRPL48 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for MRPL48 gene from 7/18 species (see all 18) About this table
ENSEMBL Gene Tree for MRPL48 (if available)
TreeFam Gene Tree for MRPL48 (if available) |
Paralogs
for MRPL48 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MRPL48 gene
MRPL48 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for MRPL48
PGOHUM00000243061
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Genomic Variants
for MRPL48 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MRPL48 (73498361 - 73576178 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MRPL48
1 CNV: 65994
Human Gene Mutation Database (HGMD): MRPL48
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MRPL48 |
|
Disorders
/ Diseases
for MRPL48 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MRPL48 for disorders About GeneDecksing
OMIM gene information: 611853
OMIM disorders: --
3  diseases for MRPL48: About MalaCardstumors of adrenal cortex adrenocortical carcinoma carcinoma
1 disease from the University of Copenhagen DISEASES database for MRPL48:Adrenocortical carcinoma Human Genome Epidemiology (HuGE) Navigator: MRPL48 (1 document)
Export disorders for MRPL48 gene to outside databases
|
Publications
for MRPL48 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MRPL48 gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with MRPL48) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2, 3 Lai C.H....Lin W. (2000)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Properties of the C-terminal tail of human mitochondr ial inner membrane protein Oxa1L and its interactions with mammalian mitochondr ial ribosomes. (PubMed id 20601428)1 Haque M.E....Spremulli L.L. (2010)
- A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (2010)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
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External Searches for MRPL48 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MRPL48 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MRPL48 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MRPL48 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MRPL48 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for MRPL48 gene:
Search GeneIP for patents involving MRPL48
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MRPL48 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MRPL48 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MRPL48 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPL48 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MRPL48 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MRPL48 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MRPL48 |
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 |  |  |  | |
| | | | Search Tocris compounds for MRPL48 |
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 | | | MRPL48 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPL48 |
|  |  |  | | | | Search ThermoFisher Antibodies for MRPL48 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRPL48 |
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