Human Gene MRPL30 (ENST00000338148.8_4) from GENCODE V47lift37
  Description: mitochondrial ribosomal protein L30, transcript variant 3 (from RefSeq NR_028356.2)
Gencode Transcript: ENST00000338148.8_4
Gencode Gene: ENSG00000185414.20_8
Transcript (Including UTRs)
   Position: hg19 chr2:99,797,647-99,816,024 Size: 18,378 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr2:99,802,667-99,812,168 Size: 9,502 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:99,797,647-99,816,024)mRNA (may differ from genome)Protein (161 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RM30_HUMAN
DESCRIPTION: RecName: Full=39S ribosomal protein L30, mitochondrial; Short=L30mt; Short=MRP-L30; AltName: Full=39S ribosomal protein L28, mitochondrial; Short=L28mt; Short=MRP-L28; Flags: Precursor;
SUBCELLULAR LOCATION: Mitochondrion (By similarity).
SIMILARITY: Belongs to the ribosomal protein L30P family.
SEQUENCE CAUTION: Sequence=AAF36169.1; Type=Frameshift; Positions=1, 36;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MRPL30
Diseases sorted by gene-association score: retinitis pigmentosa 4, autosomal dominant or recessive (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.72 RPKM in Cervix - Endocervix
Total median expression: 9.36 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.9093-0.268 Picture PostScript Text
3' UTR -1239.903856-0.322 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016082 - Ribosomal_L30_ferredoxin-like

Pfam Domains:
PF00327 - Ribosomal protein L30p/L7e

SCOP Domains:
55129 - Ribosomal protein L30p/L7e

ModBase Predicted Comparative 3D Structure on Q8TCC3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003735 structural constituent of ribosome

Biological Process:
GO:0006412 translation
GO:0070125 mitochondrial translational elongation
GO:0070126 mitochondrial translational termination

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005762 mitochondrial large ribosomal subunit
GO:0005840 ribosome
GO:0015934 large ribosomal subunit


-  Descriptions from all associated GenBank mRNAs
  AK126402 - Homo sapiens cDNA FLJ44438 fis, clone UTERU2019940, moderately similar to Homo sapiens mitochondrial ribosomal protein L30 (MRPL30).
AF151083 - Homo sapiens HSPC249 mRNA, complete cds.
BC022391 - Homo sapiens mitochondrial ribosomal protein L30, mRNA (cDNA clone MGC:24095 IMAGE:4611185), complete cds.
LF205184 - JP 2014500723-A/12687: Polycomb-Associated Non-Coding RNAs.
AK025547 - Homo sapiens cDNA: FLJ21894 fis, clone HEP03434.
JD165632 - Sequence 146656 from Patent EP1572962.
AK225894 - Homo sapiens mRNA for mitochondrial ribosomal protein L30 isoform a variant, clone: FCC120G05.
BC000217 - Homo sapiens mitochondrial ribosomal protein L30, mRNA (cDNA clone MGC:3314 IMAGE:3509919), complete cds.
JD520040 - Sequence 501064 from Patent EP1572962.
JD257962 - Sequence 238986 from Patent EP1572962.
CU692598 - Synthetic construct Homo sapiens gateway clone IMAGE:100022081 5' read MRPL30 mRNA.
HQ447742 - Synthetic construct Homo sapiens clone IMAGE:100071073; CCSB012946_02 mitochondrial ribosomal protein L30 (MRPL30) gene, encodes complete protein.
KJ898870 - Synthetic construct Homo sapiens clone ccsbBroadEn_08264 MRPL30 gene, encodes complete protein.
JD421850 - Sequence 402874 from Patent EP1572962.
JD376842 - Sequence 357866 from Patent EP1572962.
JD258563 - Sequence 239587 from Patent EP1572962.
JD434086 - Sequence 415110 from Patent EP1572962.
JD036719 - Sequence 17743 from Patent EP1572962.
JD313379 - Sequence 294403 from Patent EP1572962.
JD473562 - Sequence 454586 from Patent EP1572962.
JD451295 - Sequence 432319 from Patent EP1572962.
JD363782 - Sequence 344806 from Patent EP1572962.
JD052712 - Sequence 33736 from Patent EP1572962.
JD060933 - Sequence 41957 from Patent EP1572962.
JD160389 - Sequence 141413 from Patent EP1572962.
JD240860 - Sequence 221884 from Patent EP1572962.
JD518073 - Sequence 499097 from Patent EP1572962.
JD544930 - Sequence 525954 from Patent EP1572962.
JD296983 - Sequence 278007 from Patent EP1572962.
JD306957 - Sequence 287981 from Patent EP1572962.
BC013822 - Homo sapiens mitochondrial ribosomal protein L30, mRNA (cDNA clone IMAGE:3881876).
JD198299 - Sequence 179323 from Patent EP1572962.
JD275475 - Sequence 256499 from Patent EP1572962.
JD093766 - Sequence 74790 from Patent EP1572962.
JD297182 - Sequence 278206 from Patent EP1572962.
JD516028 - Sequence 497052 from Patent EP1572962.
JD109483 - Sequence 90507 from Patent EP1572962.
JD348084 - Sequence 329108 from Patent EP1572962.
JD089652 - Sequence 70676 from Patent EP1572962.
JD279524 - Sequence 260548 from Patent EP1572962.
JD489331 - Sequence 470355 from Patent EP1572962.
JD542995 - Sequence 524019 from Patent EP1572962.
JD213343 - Sequence 194367 from Patent EP1572962.
JD367646 - Sequence 348670 from Patent EP1572962.
JD535475 - Sequence 516499 from Patent EP1572962.
JD535476 - Sequence 516500 from Patent EP1572962.
JD069657 - Sequence 50681 from Patent EP1572962.
JD132271 - Sequence 113295 from Patent EP1572962.
JD337292 - Sequence 318316 from Patent EP1572962.
JD197296 - Sequence 178320 from Patent EP1572962.
JD288281 - Sequence 269305 from Patent EP1572962.
JD023679 - Sequence 4703 from Patent EP1572962.
JD356222 - Sequence 337246 from Patent EP1572962.
JD505402 - Sequence 486426 from Patent EP1572962.
JD106936 - Sequence 87960 from Patent EP1572962.
JD381718 - Sequence 362742 from Patent EP1572962.
JD087481 - Sequence 68505 from Patent EP1572962.
JD310801 - Sequence 291825 from Patent EP1572962.
JD053408 - Sequence 34432 from Patent EP1572962.
JD565436 - Sequence 546460 from Patent EP1572962.
JD483592 - Sequence 464616 from Patent EP1572962.
JD130003 - Sequence 111027 from Patent EP1572962.
JD357369 - Sequence 338393 from Patent EP1572962.
JD501081 - Sequence 482105 from Patent EP1572962.
JD322236 - Sequence 303260 from Patent EP1572962.
JD358281 - Sequence 339305 from Patent EP1572962.
JD146557 - Sequence 127581 from Patent EP1572962.
JD269427 - Sequence 250451 from Patent EP1572962.
JD069640 - Sequence 50664 from Patent EP1572962.
JD554460 - Sequence 535484 from Patent EP1572962.
JD379675 - Sequence 360699 from Patent EP1572962.
JD311801 - Sequence 292825 from Patent EP1572962.
MA440761 - JP 2018138019-A/12687: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8TCC3 (Reactome details) participates in the following event(s):

R-HSA-5389839 39S subunit binds 28S subunit:mRNA:fMet-tRNA
R-HSA-5419273 Hydrolysis of GTP and dissociation of 28S and 39S subunits
R-HSA-5389848 TUFM:GTP:aminoacyl-tRNA binds 55S ribosome:mRNA:fMet-tRNA
R-HSA-5389857 Peptide transfer from P-site to A-site (peptide bond formation)
R-HSA-5389842 TUFM hydrolyzes GTP and TUFM:GDP dissociates from 55S ribosome
R-HSA-5419261 55S ribosome with peptidyl-tRNA in A site binds GFM1:GTP
R-HSA-5419281 MRRF binds 55S ribosome:mRNA:tRNA
R-HSA-5419279 Translocation of peptidyl-tRNA from A-site to P-site (and translocation of 55S ribosome by 3 bases along mRNA)
R-HSA-5419264 MTRF1L (MTRF1a) or ICT1 binds stop codon in 55S ribosome:mRNA:peptidyl-tRNA
R-HSA-5419277 GFM2:GTP binds 55S ribosome:mRNA:tRNA:MRRF releasing mRNA and tRNA
R-HSA-5368286 Mitochondrial translation initiation
R-HSA-5419276 Mitochondrial translation termination
R-HSA-5368287 Mitochondrial translation
R-HSA-5389840 Mitochondrial translation elongation
R-HSA-72766 Translation
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A6NIC6, D3DVI0, D3DVI3, ENST00000338148.1, ENST00000338148.2, ENST00000338148.3, ENST00000338148.4, ENST00000338148.5, ENST00000338148.6, ENST00000338148.7, HSPC249, MRPL28, NR_028356, Q0D2Q7, Q6ZTP4, Q8TCC3, Q96Q69, Q9P0N0, RM30_HUMAN, RPML28, uc317uyd.1, uc317uyd.2
UCSC ID: ENST00000338148.8_4
RefSeq Accession: NM_145212.4
Protein: Q8TCC3 (aka RM30_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.