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Protein

39S ribosomal protein L44, mitochondrial

Gene

MRPL44

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

Functioni

Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome.1 Publication

GO - Molecular functioni

  • double-stranded RNA binding Source: GO_Central
  • ribonuclease III activity Source: GO_Central
  • RNA binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionEndonuclease, Hydrolase, Nuclease, Ribonucleoprotein, Ribosomal protein, RNA-binding

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 L44, mitochondrial (EC:3.1.26.-)
Short name:
L44mt
Short name:
MRP-L44
Alternative name(s):
Mitochondrial large ribosomal subunit protein mL441 Publication
Gene namesi
Name:MRPL44
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000135900.3
HGNCiHGNC:16650 MRPL44
MIMi611849 gene
neXtProtiNX_Q9H9J2

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

Involvement in diseasei

Combined oxidative phosphorylation deficiency 16 (COXPD16)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I and IV in heart and skeletal muscle.
See also OMIM:615395
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070568156L → R in COXPD16. 1 PublicationCorresponds to variant dbSNP:rs143697995EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi65080
MalaCardsiMRPL44
MIMi615395 phenotype
OpenTargetsiENSG00000135900
Orphaneti352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
PharmGKBiPA30976

Polymorphism and mutation databases

BioMutaiMRPL44
DMDMi51316917

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 30MitochondrionSequence analysisAdd BLAST30
ChainiPRO_000003082131 – 33239S ribosomal protein L44, mitochondrialAdd BLAST302

Proteomic databases

EPDiQ9H9J2
MaxQBiQ9H9J2
PaxDbiQ9H9J2
PeptideAtlasiQ9H9J2
PRIDEiQ9H9J2
ProteomicsDBi81324
TopDownProteomicsiQ9H9J2

PTM databases

iPTMnetiQ9H9J2
PhosphoSitePlusiQ9H9J2
SwissPalmiQ9H9J2

Expressioni

Gene expression databases

BgeeiENSG00000135900 Expressed in 202 organ(s), highest expression level in amniotic fluid
CleanExiHS_MRPL44
ExpressionAtlasiQ9H9J2 baseline and differential
GenevisibleiQ9H9J2 HS

Organism-specific databases

HPAiHPA038147
HPA038148

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.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ABI2Q9NYB93EBI-713619,EBI-743598

Protein-protein interaction databases

BioGridi122389, 70 interactors
CORUMiQ9H9J2
IntActiQ9H9J2, 39 interactors
MINTiQ9H9J2
STRINGi9606.ENSP00000258383

Structurei

Secondary structure

1332
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9H9J2
SMRiQ9H9J2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini86 – 228RNase IIIAdd BLAST143
Domaini236 – 306DRBMPROSITE-ProRule annotationAdd BLAST71

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IUHB Eukaryota
ENOG410XS28 LUCA
GeneTreeiENSGT00390000016956
HOGENOMiHOG000046065
HOVERGENiHBG054127
InParanoidiQ9H9J2
KOiK17425
OMAiVRDFICT
OrthoDBiEOG091G0MBG
PhylomeDBiQ9H9J2
TreeFamiTF324185

Family and domain databases

Gene3Di1.10.1520.10, 1 hit
InterProiView protein in InterPro
IPR014720 dsRBD_dom
IPR036389 RNase_III_sf
SUPFAMiSSF69065 SSF69065, 1 hit
PROSITEiView protein in PROSITE
PS50137 DS_RBD, 1 hit

Sequencei

Sequence statusi: Complete.

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

Q9H9J2-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MASGLVRLLQ QGHRCLLAPV APKLVPPVRG VKKGFRAAFR FQKELERQRL
60 70 80 90 100
LRCPPPPVRR SEKPNWDYHA EIQAFGHRLQ ENFSLDLLKT AFVNSCYIKS
110 120 130 140 150
EEAKRQQLGI EKEAVLLNLK SNQELSEQGT SFSQTCLTQF LEDEYPDMPT
160 170 180 190 200
EGIKNLVDFL TGEEVVCHVA RNLAVEQLTL SEEFPVPPAV LQQTFFAVIG
210 220 230 240 250
ALLQSSGPER TALFIRDFLI TQMTGKELFE MWKIINPMGL LVEELKKRNV
260 270 280 290 300
SAPESRLTRQ SGGTTALPLY FVGLYCDKKL IAEGPGETVL VAEEEAARVA
310 320 330
LRKLYGFTEN RRPWNYSKPK ETLRAEKSIT AS
Length:332
Mass (Da):37,535
Last modified:March 1, 2001 - v1
Checksum:iDD0CF6BD66CF3D9E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti232W → R in BAB14802 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034464138T → I. Corresponds to variant dbSNP:rs11546406EnsemblClinVar.1
Natural variantiVAR_070568156L → R in COXPD16. 1 PublicationCorresponds to variant dbSNP:rs143697995EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022763 mRNA Translation: BAB14234.1
AK024052 mRNA Translation: BAB14802.1
CR457293 mRNA Translation: CAG33574.1
AC073641 Genomic DNA Translation: AAY14925.1
BC012058 mRNA Translation: AAH12058.1
CCDSiCCDS2459.1
RefSeqiNP_075066.1, NM_022915.3
UniGeneiHs.203559

Genome annotation databases

EnsembliENST00000258383; ENSP00000258383; ENSG00000135900
GeneIDi65080
KEGGihsa:65080
UCSCiuc002vnr.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022763 mRNA Translation: BAB14234.1
AK024052 mRNA Translation: BAB14802.1
CR457293 mRNA Translation: CAG33574.1
AC073641 Genomic DNA Translation: AAY14925.1
BC012058 mRNA Translation: AAH12058.1
CCDSiCCDS2459.1
RefSeqiNP_075066.1, NM_022915.3
UniGeneiHs.203559

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3J7Yelectron microscopy3.40c1-332[»]
3J9Melectron microscopy3.50c1-332[»]
5OOLelectron microscopy3.06c1-332[»]
5OOMelectron microscopy3.03c1-332[»]
ProteinModelPortaliQ9H9J2
SMRiQ9H9J2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122389, 70 interactors
CORUMiQ9H9J2
IntActiQ9H9J2, 39 interactors
MINTiQ9H9J2
STRINGi9606.ENSP00000258383

PTM databases

iPTMnetiQ9H9J2
PhosphoSitePlusiQ9H9J2
SwissPalmiQ9H9J2

Polymorphism and mutation databases

BioMutaiMRPL44
DMDMi51316917

Proteomic databases

EPDiQ9H9J2
MaxQBiQ9H9J2
PaxDbiQ9H9J2
PeptideAtlasiQ9H9J2
PRIDEiQ9H9J2
ProteomicsDBi81324
TopDownProteomicsiQ9H9J2

Protocols and materials databases

DNASUi65080
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258383; ENSP00000258383; ENSG00000135900
GeneIDi65080
KEGGihsa:65080
UCSCiuc002vnr.4 human

Organism-specific databases

CTDi65080
DisGeNETi65080
EuPathDBiHostDB:ENSG00000135900.3
GeneCardsiMRPL44
HGNCiHGNC:16650 MRPL44
HPAiHPA038147
HPA038148
MalaCardsiMRPL44
MIMi611849 gene
615395 phenotype
neXtProtiNX_Q9H9J2
OpenTargetsiENSG00000135900
Orphaneti352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
PharmGKBiPA30976
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IUHB Eukaryota
ENOG410XS28 LUCA
GeneTreeiENSGT00390000016956
HOGENOMiHOG000046065
HOVERGENiHBG054127
InParanoidiQ9H9J2
KOiK17425
OMAiVRDFICT
OrthoDBiEOG091G0MBG
PhylomeDBiQ9H9J2
TreeFamiTF324185

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiMRPL44 human
GenomeRNAii65080
PROiPR:Q9H9J2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135900 Expressed in 202 organ(s), highest expression level in amniotic fluid
CleanExiHS_MRPL44
ExpressionAtlasiQ9H9J2 baseline and differential
GenevisibleiQ9H9J2 HS

Family and domain databases

Gene3Di1.10.1520.10, 1 hit
InterProiView protein in InterPro
IPR014720 dsRBD_dom
IPR036389 RNase_III_sf
SUPFAMiSSF69065 SSF69065, 1 hit
PROSITEiView protein in PROSITE
PS50137 DS_RBD, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRM44_HUMAN
AccessioniPrimary (citable) accession number: Q9H9J2
Secondary accession number(s): Q53S16, Q6IA62, Q9H821
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 149 of the entry and version 1 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 chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Ribosomal proteins
    Ribosomal proteins families and list of entries
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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