MRPL30 Gene
protein-coding GIFtS: 45
GCID: GC02P099772
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|
mitochondrial ribosomal protein L30
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Aliases
for MRPL30 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 L301 2 | | 39S Ribosomal Protein L30, Mitochondrial2 | | MRP-L281 2 3 | | L28MT2 | | RPML281 2 3 | | L30MT2 | | MRPL282 3 5 | | MRPL28M2 | | 39S Ribosomal Protein L28, Mitochondrial2 3 | | L28mt3 | | MRP-L302 3 | | L30mt3 |
Export aliases for MRPL30 gene to outside databasesPrevious GC identifers: GC02P097654 GC02P098225 GC02P099402 GC02P099418 GC02P099256 GC02P099137 GC02P099164 GC02P093563 |
Summaries
for MRPL30 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 MRPL30:
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.Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found onchromosomes 6p and 12p. Read-through transcription also exists between this gene and the neighboring upstreamlipoyltransferase 1 (LIPT1) gene. (provided by RefSeq, Mar 2011)
Gene Wiki entry for MRPL30
|
Genomic Views
for MRPL30 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_000002.11 NC_018913.1 NT_022171.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MRPL30 gene promoter:
USF1 AML1a POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) POU3F2 NF-AT MEF-2A USF-1 aMEF-2 NF-AT1
Other transcription factors
Search SABiosciences Chromatin IP Primers for MRPL30
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPL30 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q11.2 Ensembl cytogenetic band: 2q11.2 HGNC cytogenetic band: 2q11.2MRPL30 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P099772: view genomic region
(about GC identifiers)
Start:
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99,771,461 bp from pter |
End:
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99,814,089 bp from pter |
Size:
|
42,629 bases |
Orientation:
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plus strand |
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Proteins
for MRPL30 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: RM30_HUMAN, Q8TCC3 (See
protein sequence)Recommended Name: 39S ribosomal protein L30, mitochondrial precursor Size: 161 amino acids; 18546 Da
Subcellular location: Mitochondrion (By similarity)
Sequence caution: Sequence=AAF36169.1; Type=Frameshift; Positions=1, 36;
Secondary accessions: A6NIC6 D3DVI0 D3DVI3 Q0D2Q7 Q6ZTP4 Q96Q69 Q9P0N0Alternative splicing: 3 isoforms: Q8TCC3-1 Q8TCC3-2 Q8TCC3-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for MRPL30: NX_Q8TCC3
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8TCC3
MRPL30 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_660213.1
ENSEMBL proteins: ENSP00000387111 ENSP00000338057 ENSP00000386970 ENSP00000386752
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
MRPL30 for ontologies About GeneDecksing
MRPL30 Antibody Products:
Assay Products for MRPL30: |
Protein
Domains /
Families
for MRPL30 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MRPL30 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8TCC3ProtoNet protein and cluster: Q8TCC3 1 Blocks protein family: IPB000517 Ribosomal protein L30
UniProtKB/Swiss-Prot: RM30_HUMAN, Q8TCC3Similarity: Belongs to the ribosomal protein L30P family |
Function
for MRPL30 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 MRPL30 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MRPL30 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for MRPL30 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRPL30 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPL30 |
1 GenomeRNAi human phenotype for MRPL30:
|
Pathways & Interactions
for MRPL30 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 MRPL30
1 Interacting protein for MRPL30 (Q8TCC33) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for MRPL30 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 MRPL30
Search CenterWatch for drugs/clinical trials and news about MRPL30 / RM30
|
Transcripts
for MRPL30 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 MRPL30 gene (3 alternative transcripts): NM_145212.3 NM_016503.2 NM_145213.2 Unigene Cluster for MRPL30: Mitochondrial ribosomal protein L30 Hs.346736 [show with all ESTs]Unigene Representative Sequence: NM_1452127 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000410042(uc002szr.3) ENST00000338148(uc002szu.3 uc002szv.3)
ENST00000473743 ENST00000409145 ENST00000465432 ENST00000409841 ENST00000476721
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MRPL30 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MRPL30 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MRPL30 (NM_145212) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MRPL30 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRPL30 |
Additional cDNA sequence: AK025547.1 AK225894.1 BC000217.1 BC013822.1 BC022391.1 NR_028356.1 24/25 DOTS entries (see all 25): DT.100704607 DT.97778781 DT.86854466 DT.95289790 DT.120952267 DT.100701372 DT.120952457 DT.120952344 DT.100780659 DT.40127273 DT.95289789 DT.120952275 DT.75108351 DT.100701371 DT.120952263 DT.100666615 DT.102835913 DT.116479 DT.120952440 DT.95289793 DT.100773836 DT.121389507 DT.102838887 DT.70102029 24/317 AceView cDNA sequences (see all 317): BQ020788 NM_145196 AI247681 AI434227 BM671173 AI347472 BC021264 AI469440 BF589308 BF445559 AI696683 T71680 CR603303 NM_145198 AA865778 AA807093 F12224 AI148460 CK819174 AI915067 NM_145199 AA397986 BC070145 AA811675
GeneLoc Exon Structure
|
Expression
for MRPL30 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
| MRPL30 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTATTGTCC
About this image
See MRPL30 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MRPL30
SOURCE GeneReport for Unigene cluster: Hs.346736
SABiosciences Custom PCR Arrays for MRPL30
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MRPL30
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPL30 |
Orthologs
for MRPL30 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 MRPL30 gene from 6/18 species (see all 18) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Mrpl301 , 5 |
mitochondrial ribosomal protein L301, 5 |
83.12(n)1
83.54(a)1 |
|
1 (16.17 cM)5
1077341 NM_027098.21 NP_081374.11
378904775 |
chicken
(Gallus gallus) |
Aves |
MRPL301 |
mitochondrial ribosomal protein L30 |
66.43(n)
64.49(a) |
|
418699 XM_416895.2 XP_416895.1 |
lizard
(Anolis carolinensis) |
Reptilia |
MRPL306 |
-- |
65(a) |
1 → many |
GL343940.1(96075-98567) |
African clawed frog
(Xenopus laevis) |
Amphibia |
AW639453.12 |
-- |
72.82(n) |
|
AW639453.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.169802 |
Transcribed sequence with weak similarity to protein more |
70.12(n) |
|
AL915245.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
mRpL306 |
mitochondrial ribosomal protein L30 |
23(a) |
1 → many |
X(4541910-4542679) |
ENSEMBL Gene Tree for MRPL30 (if available)
TreeFam Gene Tree for MRPL30 (if available) |
Paralogs
for MRPL30 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MRPL30 gene
- C2orf152
MRPL30 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for MRPL30
PGOHUM00000239725
|
Genomic Variants
for MRPL30 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 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MRPL30 (99771461 - 99814089 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MRPL30: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MRPL30 |
|
Disorders
/ Diseases
for MRPL30 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
|
 MRPL30 for disorders About MalaCards
MRPL30 for disorders About GeneDecksing
OMIM gene information: 611838
OMIM disorders: --
Human Genome Epidemiology (HuGE) Navigator: MRPL30 (1 document)
Export disorders for MRPL30 gene to outside databases
|
Publications
for MRPL30 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 MRPL30 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with MRPL30) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. (PubMed id 11543634)1, 2 Kenmochi N....Tanaka T. (2001)
- Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Large-scale genome-wide association analysis of bipol ar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1 Sklar P....Purcell S.M. (2011)
- 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)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
|
External Searches for MRPL30 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MRPL30 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MRPL30 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MRPL30 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 MRPL30 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for MRPL30 gene:
Search GeneIP for patents involving MRPL30
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MRPL30 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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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MRPL30 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MRPL30 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPL30 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MRPL30 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MRPL30 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MRPL30 |
| |
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| |  |  |  |  | | | | |
 |
 |
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 | | | MRPL30 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPL30 |
|  |  |  | | | | ThermoFisher Antibodies for MRPL30 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRPL30 |
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