MRPL38 mitochondrial ribosomal protein L38 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MRPL38provided by HGNC
Official Full Name: mitochondrial ribosomal protein L38provided by HGNC
Primary source: HGNC:HGNC:14033
See related: Ensembl:ENSG00000204316 MIM:611844; AllianceGenome:HGNC:14033
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: mL38; L38MT; RPML3; MRP-L3; HSPC262; MRP-L38
Summary: Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in kidney (RPKM 16.0), testis (RPKM 15.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (75898644..75904884, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (76791796..76798036, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (73894725..73900965, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Multi-Trait Approach Identified Genetic Variants Including a Rare Mutation in RGS3 with Impact on Abnormalities of Cardiac Structure/Function.
Title: A Multi-Trait Approach Identified Genetic Variants Including a Rare Mutation in RGS3 with Impact on Abnormalities of Cardiac Structure/Function.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46079 (e-PCR)
- UniSTS:88858

SHGC-132666 (e-PCR)
- UniSTS:185381

RH79813 (e-PCR)
- UniSTS:92198

SHGC-155088 (e-PCR)
- UniSTS:183084

D17S1475E (e-PCR)
- UniSTS:151682

RH15963 (e-PCR)
- UniSTS:47255

SHGC-37061 (e-PCR)
- UniSTS:5788

RH78964 (e-PCR)
- UniSTS:28121

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial translation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
part_of mitochondrial large ribosomal subunit	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial large ribosomal subunit	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial large ribosomal subunit	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: large ribosomal subunit protein mL38

Names: 39S ribosomal protein L38, mitochondrial; mitochondrial large ribosomal subunit protein mL38

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_032478.4 → NP_115867.2 large ribosomal subunit protein mL38 precursor

See identical proteins and their annotated locations for NP_115867.2

Status: REVIEWED

Source sequence(s)

AC087289

Consensus CDS

CCDS11733.2

UniProtKB/Swiss-Prot

B3KN96, Q96DV4, Q96Q66, Q9P0B9

UniProtKB/TrEMBL

B2R894

Related

ENSP00000308275.4, ENST00000309352.4

Conserved Domains (1) summary

cd00866
Location:171 → 321

PEBP_euk; PhosphatidylEthanolamine-Binding Protein (PEBP) domain present in eukaryotes