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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

Complete GO annotation...

Keywords - Molecular functioni

Endonuclease, Hydrolase, Nuclease, Ribonucleoprotein, Ribosomal protein

Keywords - Ligandi

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

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti156 – 1561L → R in COXPD16. 1 Publication
Corresponds to variant rs143697995 [ dbSNP | Ensembl ].
VAR_070568

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiMRPL44.
DMDMi51316917.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3030MitochondrionSequence analysisAdd
BLAST
Chaini31 – 33230239S ribosomal protein L44, mitochondrialPRO_0000030821Add
BLAST

Proteomic databases

EPDiQ9H9J2.
MaxQBiQ9H9J2.
PaxDbiQ9H9J2.
PeptideAtlasiQ9H9J2.
PRIDEiQ9H9J2.
TopDownProteomicsiQ9H9J2.

PTM databases

iPTMnetiQ9H9J2.
PhosphoSiteiQ9H9J2.
SwissPalmiQ9H9J2.

Expressioni

Gene expression databases

BgeeiQ9H9J2.
CleanExiHS_MRPL44.
ExpressionAtlasiQ9H9J2. baseline and differential.
GenevisibleiQ9H9J2. HS.

Organism-specific databases

HPAiHPA038147.
HPA038148.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi122389. 63 interactions.
IntActiQ9H9J2. 29 interactions.
MINTiMINT-1384665.
STRINGi9606.ENSP00000258383.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3J7Yelectron microscopy3.40c1-332[»]
3J9Melectron microscopy3.50c1-332[»]
ProteinModelPortaliQ9H9J2.
SMRiQ9H9J2. Positions 31-316.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini86 – 228143RNase IIIAdd
BLAST
Domaini236 – 30671DRBMPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 DRBM (double-stranded RNA-binding) domain.PROSITE-ProRule annotation
Contains 1 RNase III domain.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IUHB. Eukaryota.
ENOG410XS28. LUCA.
GeneTreeiENSGT00390000016956.
HOGENOMiHOG000046065.
HOVERGENiHBG054127.
InParanoidiQ9H9J2.
KOiK17425.
OMAiRCLLAPV.
OrthoDBiEOG7WQ7SN.
PhylomeDBiQ9H9J2.
TreeFamiTF324185.

Family and domain databases

Gene3Di1.10.1520.10. 1 hit.
3.30.160.20. 1 hit.
InterProiIPR014720. dsRBD_dom.
IPR000999. RNase_III_dom.
[Graphical view]
SUPFAMiSSF69065. SSF69065. 1 hit.
PROSITEiPS50137. DS_RBD. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti232 – 2321W → R in BAB14802 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti138 – 1381T → I.
Corresponds to variant rs11546406 [ dbSNP | Ensembl ].
VAR_034464
Natural varianti156 – 1561L → R in COXPD16. 1 Publication
Corresponds to variant rs143697995 [ dbSNP | Ensembl ].
VAR_070568

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
EntryMethodResolution (Å)ChainPositionsPDBsum
3J7Yelectron microscopy3.40c1-332[»]
3J9Melectron microscopy3.50c1-332[»]
ProteinModelPortaliQ9H9J2.
SMRiQ9H9J2. Positions 31-316.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122389. 63 interactions.
IntActiQ9H9J2. 29 interactions.
MINTiMINT-1384665.
STRINGi9606.ENSP00000258383.

PTM databases

iPTMnetiQ9H9J2.
PhosphoSiteiQ9H9J2.
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.
GeneCardsiMRPL44.
HGNCiHGNC:16650. MRPL44.
HPAiHPA038147.
HPA038148.
MalaCardsiMRPL44.
MIMi611849. gene.
615395. phenotype.
neXtProtiNX_Q9H9J2.
Orphaneti352563. Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency.
PharmGKBiPA30976.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IUHB. Eukaryota.
ENOG410XS28. LUCA.
GeneTreeiENSGT00390000016956.
HOGENOMiHOG000046065.
HOVERGENiHBG054127.
InParanoidiQ9H9J2.
KOiK17425.
OMAiRCLLAPV.
OrthoDBiEOG7WQ7SN.
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

BgeeiQ9H9J2.
CleanExiHS_MRPL44.
ExpressionAtlasiQ9H9J2. baseline and differential.
GenevisibleiQ9H9J2. HS.

Family and domain databases

Gene3Di1.10.1520.10. 1 hit.
3.30.160.20. 1 hit.
InterProiIPR014720. dsRBD_dom.
IPR000999. RNase_III_dom.
[Graphical view]
SUPFAMiSSF69065. SSF69065. 1 hit.
PROSITEiPS50137. DS_RBD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Uterus.
  5. "The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present."
    Koc E.C., Burkhart W., Blackburn K., Moyer M.B., Schlatzer D.M., Moseley A., Spremulli L.L.
    J. Biol. Chem. 276:43958-43969(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy."
    Carroll C.J., Isohanni P., Poeyhoenen R., Euro L., Richter U., Brilhante V., Goetz A., Lahtinen T., Paetau A., Pihko H., Battersby B.J., Tyynismaa H., Suomalainen A.
    J. Med. Genet. 50:151-159(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, VARIANT COXPD16 ARG-156.
  8. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiRM44_HUMAN
AccessioniPrimary (citable) accession number: Q9H9J2
Secondary accession number(s): Q53S16, Q6IA62, Q9H821
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: March 1, 2001
Last modified: July 6, 2016
This is version 129 of the entry and version 1 of the sequence. [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
  6. SIMILARITY comments
    Index of protein domains and families

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.