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Protein

39S ribosomal protein L48, mitochondrial

Gene

MRPL48

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

GO - Biological processi

Keywordsi

Molecular functionRibonucleoprotein, Ribosomal protein

Enzyme and pathway databases

ReactomeiR-HSA-5368286 Mitochondrial translation initiation
R-HSA-5389840 Mitochondrial translation elongation
R-HSA-5419276 Mitochondrial translation termination

Names & Taxonomyi

Protein namesi
Recommended name:
39S ribosomal protein L48, mitochondrial
Short name:
L48mt
Short name:
MRP-L48
Alternative name(s):
Mitochondrial large ribosomal subunit protein mL481 Publication
Gene namesi
Name:MRPL48
ORF Names:CGI-118, HSPC290
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000175581.13
HGNCiHGNC:16653 MRPL48
MIMi611853 gene
neXtProtiNX_Q96GC5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000175581
PharmGKBiPA30980

Polymorphism and mutation databases

BioMutaiMRPL48
DMDMi118573683

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 28MitochondrionSequence analysisAdd BLAST28
ChainiPRO_000026165729 – 21239S ribosomal protein L48, mitochondrialAdd BLAST184

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei199N6-succinyllysineBy similarity1

Proteomic databases

EPDiQ96GC5
MaxQBiQ96GC5
PaxDbiQ96GC5
PeptideAtlasiQ96GC5
PRIDEiQ96GC5
ProteomicsDBi76610
TopDownProteomicsiQ96GC5-1 [Q96GC5-1]

PTM databases

iPTMnetiQ96GC5
PhosphoSitePlusiQ96GC5

Expressioni

Gene expression databases

BgeeiENSG00000175581 Expressed in 224 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_MRPL48
ExpressionAtlasiQ96GC5 baseline and differential
GenevisibleiQ96GC5 HS

Organism-specific databases

HPAiHPA040241
HPA040864

Interactioni

Subunit structurei

Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins. mL48 is located at the central protuberance (PubMed:25278503, PubMed:25838379). Interacts with OXA1L (By similarity).By similarity3 Publications

Protein-protein interaction databases

BioGridi119652, 47 interactors
CORUMiQ96GC5
IntActiQ96GC5, 25 interactors
MINTiQ96GC5
STRINGi9606.ENSP00000308717

Structurei

Secondary structure

1212
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ96GC5
SMRiQ96GC5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi69 – 74Poly-Lys6

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG4060 Eukaryota
ENOG4111XHC LUCA
GeneTreeiENSGT00390000012955
HOGENOMiHOG000070027
HOVERGENiHBG055302
InParanoidiQ96GC5
KOiK17429
OMAiCYALPPQ
OrthoDBiEOG091G0PC2
PhylomeDBiQ96GC5
TreeFamiTF315130

Family and domain databases

Gene3Di3.30.70.600, 1 hit
InterProiView protein in InterPro
IPR027487 Ribosomal_L48
IPR027486 Ribosomal_S10_dom
IPR036838 Ribosomal_S10_dom_sf
PANTHERiPTHR13473 PTHR13473, 1 hit
PfamiView protein in Pfam
PF00338 Ribosomal_S10, 1 hit
SMARTiView protein in SMART
SM01403 Ribosomal_S10, 1 hit
SUPFAMiSSF54999 SSF54999, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96GC5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSGTLEKVLC LRNNTIFKQA FSLLRFRTSG EKPIYSVGGI LLSISRPYKT
60 70 80 90 100
KPTHGIGKYK HLIKAEEPKK KKGKVEVRAI NLGTDYEYGV LNIHLTAYDM
110 120 130 140 150
TLAESYAQYV HNLCNSLSIK VEESYAMPTK TIEVLQLQDQ GSKMLLDSVL
160 170 180 190 200
TTHERVVQIS GLSATFAEIF LEIIQSSLPE GVRLSVKEHT EEDFKGRFKA
210
RPELEELLAK LK
Length:212
Mass (Da):23,935
Last modified:November 28, 2006 - v2
Checksum:i0663B1751B57FFF5
GO
Isoform 2 (identifier: Q96GC5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-37: MSGTLEKVLCLRNNTIFKQAFSLLRFRTSGEKPIYSV → MGLSSCRKTSSGLPLILHY

Note: No experimental confirmation available.
Show »
Length:194
Mass (Da):21,749
Checksum:i6856CF1F86AC535F
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H8D0F5H8D0_HUMAN
39S ribosomal protein L48, mitochon...
MRPL48
121Annotation score:
F5H702F5H702_HUMAN
39S ribosomal protein L48, mitochon...
MRPL48
113Annotation score:
F5GWB4F5GWB4_HUMAN
39S ribosomal protein L48, mitochon...
MRPL48
52Annotation score:
F5H717F5H717_HUMAN
39S ribosomal protein L48, mitochon...
MRPL48
50Annotation score:
F5H1L2F5H1L2_HUMAN
39S ribosomal protein L48, mitochon...
MRPL48
26Annotation score:
F5GZH8F5GZH8_HUMAN
39S ribosomal protein L48, mitochon...
MRPL48
50Annotation score:
F5H4A2F5H4A2_HUMAN
39S ribosomal protein L48, mitochon...
MRPL48
41Annotation score:
F5H471F5H471_HUMAN
39S ribosomal protein L48, mitochon...
MRPL48
13Annotation score:
A0A140TA24A0A140TA24_HUMAN
39S ribosomal protein L48, mitochon...
MRPL48
10Annotation score:

Sequence cautioni

The sequence AAF28968 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0294736E → G1 PublicationCorresponds to variant dbSNP:rs17850551Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0541301 – 37MSGTL…PIYSV → MGLSSCRKTSSGLPLILHY in isoform 2. 1 PublicationAdd BLAST37

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151876 mRNA Translation: AAD34113.1
AF161408 mRNA Translation: AAF28968.1 Different initiation.
AK297746 mRNA Translation: BAG60096.1
AP002770 Genomic DNA No translation available.
BC009764 mRNA Translation: AAH09764.1
CCDSiCCDS44676.1 [Q96GC5-1]
RefSeqiNP_001305427.1, NM_001318498.1 [Q96GC5-3]
NP_001305428.1, NM_001318499.1
NP_001305429.1, NM_001318500.1
NP_057139.1, NM_016055.5 [Q96GC5-1]
UniGeneiHs.503239

Genome annotation databases

EnsembliENST00000310614; ENSP00000308717; ENSG00000175581 [Q96GC5-1]
GeneIDi51642
KEGGihsa:51642
UCSCiuc001ouh.5 human [Q96GC5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151876 mRNA Translation: AAD34113.1
AF161408 mRNA Translation: AAF28968.1 Different initiation.
AK297746 mRNA Translation: BAG60096.1
AP002770 Genomic DNA No translation available.
BC009764 mRNA Translation: AAH09764.1
CCDSiCCDS44676.1 [Q96GC5-1]
RefSeqiNP_001305427.1, NM_001318498.1 [Q96GC5-3]
NP_001305428.1, NM_001318499.1
NP_001305429.1, NM_001318500.1
NP_057139.1, NM_016055.5 [Q96GC5-1]
UniGeneiHs.503239

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3J7Yelectron microscopy3.40f1-194[»]
3J9Melectron microscopy3.50f1-194[»]
5OOLelectron microscopy3.06f1-212[»]
5OOMelectron microscopy3.03f1-212[»]
ProteinModelPortaliQ96GC5
SMRiQ96GC5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119652, 47 interactors
CORUMiQ96GC5
IntActiQ96GC5, 25 interactors
MINTiQ96GC5
STRINGi9606.ENSP00000308717

PTM databases

iPTMnetiQ96GC5
PhosphoSitePlusiQ96GC5

Polymorphism and mutation databases

BioMutaiMRPL48
DMDMi118573683

Proteomic databases

EPDiQ96GC5
MaxQBiQ96GC5
PaxDbiQ96GC5
PeptideAtlasiQ96GC5
PRIDEiQ96GC5
ProteomicsDBi76610
TopDownProteomicsiQ96GC5-1 [Q96GC5-1]

Protocols and materials databases

DNASUi51642
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000310614; ENSP00000308717; ENSG00000175581 [Q96GC5-1]
GeneIDi51642
KEGGihsa:51642
UCSCiuc001ouh.5 human [Q96GC5-1]

Organism-specific databases

CTDi51642
EuPathDBiHostDB:ENSG00000175581.13
GeneCardsiMRPL48
HGNCiHGNC:16653 MRPL48
HPAiHPA040241
HPA040864
MIMi611853 gene
neXtProtiNX_Q96GC5
OpenTargetsiENSG00000175581
PharmGKBiPA30980
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4060 Eukaryota
ENOG4111XHC LUCA
GeneTreeiENSGT00390000012955
HOGENOMiHOG000070027
HOVERGENiHBG055302
InParanoidiQ96GC5
KOiK17429
OMAiCYALPPQ
OrthoDBiEOG091G0PC2
PhylomeDBiQ96GC5
TreeFamiTF315130

Enzyme and pathway databases

ReactomeiR-HSA-5368286 Mitochondrial translation initiation
R-HSA-5389840 Mitochondrial translation elongation
R-HSA-5419276 Mitochondrial translation termination

Miscellaneous databases

ChiTaRSiMRPL48 human
GenomeRNAii51642
PROiPR:Q96GC5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000175581 Expressed in 224 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_MRPL48
ExpressionAtlasiQ96GC5 baseline and differential
GenevisibleiQ96GC5 HS

Family and domain databases

Gene3Di3.30.70.600, 1 hit
InterProiView protein in InterPro
IPR027487 Ribosomal_L48
IPR027486 Ribosomal_S10_dom
IPR036838 Ribosomal_S10_dom_sf
PANTHERiPTHR13473 PTHR13473, 1 hit
PfamiView protein in Pfam
PF00338 Ribosomal_S10, 1 hit
SMARTiView protein in SMART
SM01403 Ribosomal_S10, 1 hit
SUPFAMiSSF54999 SSF54999, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRM48_HUMAN
AccessioniPrimary (citable) accession number: Q96GC5
Secondary accession number(s): B4DN34
, Q49AK7, Q4U2Q4, Q9P091, Q9Y5J0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: November 28, 2006
Last modified: September 12, 2018
This is version 126 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Ribosomal proteins
    Ribosomal proteins families and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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