Human Gene MRPL44 (ENST00000258383.4_5) from GENCODE V47lift37

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Description: mitochondrial ribosomal protein L44 (from RefSeq NM_022915.5)
Gencode Transcript: ENST00000258383.4_5
Gencode Gene: ENSG00000135900.4_8
Transcript (Including UTRs)
Position: hg19 chr2:224,822,180-224,832,431 Size: 10,252 Total Exon Count: 4 Strand: +
Coding Region
Position: hg19 chr2:224,822,190-224,831,751 Size: 9,562 Coding Exon Count: 4

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr2:224,822,180-224,832,431)			mRNA (may differ from genome)		Protein (332 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	Reactome
UniProtKB	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: RM44_HUMAN DESCRIPTION: RecName: Full=39S ribosomal protein L44, mitochondrial; Short=L44mt; Short=MRP-L44; EC=3.1.26.-; Flags: Precursor; FUNCTION: Component of the 39S subunit of mitochondrial ribosome. SUBCELLULAR LOCATION: Mitochondrion. SIMILARITY: Contains 1 DRBM (double-stranded RNA-binding) domain. SIMILARITY: Contains 1 RNase III domain.

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: MRPL44 Diseases sorted by gene-association score: combined oxidative phosphorylation deficiency 16* (1330) * = Manually curated disease association

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene C023514 2,6-dinitrotoluene D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide D016572 Cyclosporine D012643 Selenium D014810 Vitamin E C006253 pirinixic acid C059514 resveratrol C089730 rosiglitazone

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 39.00 RPKM in Cells - EBV-transformed lymphocytes Total median expression: 590.52 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
3' UTR	-177.10	680	-0.260	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
IPR001159 - Ds-RNA-bd
IPR014720 - dsRNA-bd-like
IPR000999 - RNase_III_dom

SCOP Domains:
69065 - RNase III domain-like
54768 - dsRNA-binding domain-like

ModBase Predicted Comparative 3D Structure on Q9H9J2


Front	Top	Side

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	Genome Browser	No ortholog
Gene Details	Gene Details		Gene Details	Gene Details
Gene Sorter	Gene Sorter		Gene Sorter	Gene Sorter
	RGD	Ensembl		WormBase
				Protein Sequence
				Alignment

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0003723 RNA binding GO:0003725 double-stranded RNA binding GO:0004518 nuclease activity GO:0004519 endonuclease activity GO:0004525 ribonuclease III activity GO:0005515 protein binding GO:0016787 hydrolase activity Biological Process: GO:0006396 RNA processing GO:0070125 mitochondrial translational elongation GO:0070126 mitochondrial translational termination GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic Cellular Component: GO:0005634 nucleus GO:0005739 mitochondrion GO:0005743 mitochondrial inner membrane GO:0005762 mitochondrial large ribosomal subunit GO:0005840 ribosome GO:0005886 plasma membrane

Descriptions from all associated GenBank mRNAs


	AK022763 - Homo sapiens cDNA FLJ12701 fis, clone NT2RP1000730. BC012058 - Homo sapiens mitochondrial ribosomal protein L44, mRNA (cDNA clone MGC:19885 IMAGE:4554033), complete cds. AK024052 - Homo sapiens cDNA FLJ13990 fis, clone Y79AA1002089. CU680184 - Synthetic construct Homo sapiens gateway clone IMAGE:100020657 5' read MRPL44 mRNA. CR457293 - Homo sapiens full open reading frame cDNA clone RZPDo834B0913D for gene MRPL44, mitochondrial ribosomal protein L44; complete cds, incl. stopcodon. JF432340 - Synthetic construct Homo sapiens clone IMAGE:100073528 mitochondrial ribosomal protein L44 (MRPL44) gene, encodes complete protein. KJ894602 - Synthetic construct Homo sapiens clone ccsbBroadEn_03996 MRPL44 gene, encodes complete protein. DQ573370 - Homo sapiens piRNA piR-41482, complete sequence. AK095007 - Homo sapiens cDNA FLJ37688 fis, clone BRHIP2014291. JD084299 - Sequence 65323 from Patent EP1572962. JD274139 - Sequence 255163 from Patent EP1572962. JD535296 - Sequence 516320 from Patent EP1572962. JD300312 - Sequence 281336 from Patent EP1572962. JD429291 - Sequence 410315 from Patent EP1572962. JD241042 - Sequence 222066 from Patent EP1572962. JD325933 - Sequence 306957 from Patent EP1572962. JD153255 - Sequence 134279 from Patent EP1572962. JD153256 - Sequence 134280 from Patent EP1572962. JD161566 - Sequence 142590 from Patent EP1572962. JD161567 - Sequence 142591 from Patent EP1572962. JD547630 - Sequence 528654 from Patent EP1572962. JD547631 - Sequence 528655 from Patent EP1572962. JD227608 - Sequence 208632 from Patent EP1572962. JD522992 - Sequence 504016 from Patent EP1572962. JD405613 - Sequence 386637 from Patent EP1572962. JD405614 - Sequence 386638 from Patent EP1572962. JD270510 - Sequence 251534 from Patent EP1572962. JD457393 - Sequence 438417 from Patent EP1572962. JD457394 - Sequence 438418 from Patent EP1572962. JD457396 - Sequence 438420 from Patent EP1572962. JD388805 - Sequence 369829 from Patent EP1572962. JD388807 - Sequence 369831 from Patent EP1572962. JD388808 - Sequence 369832 from Patent EP1572962. JD256743 - Sequence 237767 from Patent EP1572962. JD407526 - Sequence 388550 from Patent EP1572962. JD212959 - Sequence 193983 from Patent EP1572962. JD463044 - Sequence 444068 from Patent EP1572962. JD059570 - Sequence 40594 from Patent EP1572962. JD268835 - Sequence 249859 from Patent EP1572962. JD095236 - Sequence 76260 from Patent EP1572962. JD321709 - Sequence 302733 from Patent EP1572962. JD207548 - Sequence 188572 from Patent EP1572962. JD285397 - Sequence 266421 from Patent EP1572962. JD296851 - Sequence 277875 from Patent EP1572962. JD356648 - Sequence 337672 from Patent EP1572962. JD238892 - Sequence 219916 from Patent EP1572962. JD374406 - Sequence 355430 from Patent EP1572962.

Biochemical and Signaling Pathways


	Reactome (by CSHL, EBI, and GO) Protein Q9H9J2 (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: ENST00000258383.1, ENST00000258383.2, ENST00000258383.3, NM_022915, Q53S16, Q6IA62, Q9H821, Q9H9J2, RM44_HUMAN, uc317gcd.1, uc317gcd.2 UCSC ID: ENST00000258383.4_5 RefSeq Accession: NM_022915.5 Protein: Q9H9J2 (aka RM44_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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