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Protein

39S ribosomal protein L44, mitochondrial

Gene

MRPL44

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • poly(A) RNA binding Source: UniProtKB
  • ribonuclease III activity Source: GO_Central

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
Gene namesi
Name:MRPL44
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:16650. MRPL44.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial inner membrane Source: Reactome
  • mitochondrial large ribosomal subunit Source: UniProtKB
  • nucleus Source: GO_Central

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:rs143697995Ensembl.1

Keywords - Diseasei

Disease mutation

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.
TopDownProteomicsiQ9H9J2.

PTM databases

iPTMnetiQ9H9J2.
PhosphoSitePlusiQ9H9J2.
SwissPalmiQ9H9J2.

Expressioni

Gene expression databases

BgeeiENSG00000135900.
CleanExiHS_MRPL44.
ExpressionAtlasiQ9H9J2. baseline and differential.
GenevisibleiQ9H9J2. HS.

Organism-specific databases

HPAiHPA038147.
HPA038148.

Interactioni

Subunit structurei

Component of the mitochondrial ribosome large subunit (39S) which comprises a 16S rRNA and about 50 distinct proteins.2 Publications

Binary interactionsi

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

Protein-protein interaction databases

BioGridi122389. 63 interactors.
IntActiQ9H9J2. 32 interactors.
MINTiMINT-1384665.
STRINGi9606.ENSP00000258383.

Structurei

Secondary structure

1332
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi36 – 52Combined sources17
Turni60 – 62Combined sources3
Beta strandi63 – 65Combined sources3
Helixi68 – 78Combined sources11
Helixi85 – 92Combined sources8
Helixi95 – 106Combined sources12
Helixi123 – 144Combined sources22
Helixi150 – 161Combined sources12
Helixi165 – 173Combined sources9
Helixi175 – 178Combined sources4
Beta strandi182 – 185Combined sources4
Helixi188 – 205Combined sources18
Helixi208 – 218Combined sources11
Helixi220 – 222Combined sources3
Beta strandi223 – 225Combined sources3
Turni228 – 230Combined sources3
Helixi237 – 248Combined sources12
Beta strandi257 – 261Combined sources5
Beta strandi263 – 267Combined sources5
Beta strandi269 – 288Combined sources20
Helixi289 – 304Combined sources16
Turni308 – 310Combined sources3

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[»]
ProteinModelPortaliQ9H9J2.
SMRiQ9H9J2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

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

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IUHB. Eukaryota.
ENOG410XS28. LUCA.
GeneTreeiENSGT00390000016956.
HOGENOMiHOG000046065.
HOVERGENiHBG054127.
InParanoidiQ9H9J2.
KOiK17425.
OMAiRCLLAPV.
OrthoDBiEOG090A09WV.
PhylomeDBiQ9H9J2.
TreeFamiTF324185.

Family and domain databases

Gene3Di1.10.1520.10. 1 hit.
3.30.160.20. 1 hit.
InterProiView protein in InterPro
IPR014720. dsRBD_dom.
IPR000999. RNase_III_dom.
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:rs11546406Ensembl.1
Natural variantiVAR_070568156L → R in COXPD16. 1 PublicationCorresponds to variant dbSNP:rs143697995Ensembl.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

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[»]
ProteinModelPortaliQ9H9J2.
SMRiQ9H9J2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122389. 63 interactors.
IntActiQ9H9J2. 32 interactors.
MINTiMINT-1384665.
STRINGi9606.ENSP00000258383.

PTM databases

iPTMnetiQ9H9J2.
PhosphoSitePlusiQ9H9J2.
SwissPalmiQ9H9J2.

Polymorphism and mutation databases

BioMutaiMRPL44.
DMDMi51316917.

Proteomic databases

EPDiQ9H9J2.
MaxQBiQ9H9J2.
PaxDbiQ9H9J2.
PeptideAtlasiQ9H9J2.
PRIDEiQ9H9J2.
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.
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.
OMAiRCLLAPV.
OrthoDBiEOG090A09WV.
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.
PROiQ9H9J2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135900.
CleanExiHS_MRPL44.
ExpressionAtlasiQ9H9J2. baseline and differential.
GenevisibleiQ9H9J2. HS.

Family and domain databases

Gene3Di1.10.1520.10. 1 hit.
3.30.160.20. 1 hit.
InterProiView protein in InterPro
IPR014720. dsRBD_dom.
IPR000999. RNase_III_dom.
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: February 15, 2017
This is version 134 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. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.