MRPL24 mitochondrial ribosomal protein L24 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MRPL24provided by HGNC
Official Full Name: mitochondrial ribosomal protein L24provided by HGNC
Primary source: HGNC:HGNC:14037
See related: Ensembl:ENSG00000143314 MIM:611836; AllianceGenome:HGNC:14037
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: L24mt; uL24m; MRP-L18; MRP-L24
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 which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in fat (RPKM 29.6), adrenal (RPKM 28.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (156737303..156742716, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (155874136..155878130, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (156707095..156710880, complement)

Chromosome 1 - NC_000001.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of mitochondrial ribosomal protein L24 (MRPL24) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH17641 (e-PCR)
- UniSTS:17480

G16300 (e-PCR)
- UniSTS:8044

SHGC-12542 (e-PCR)
- UniSTS:80764

SHGC-33059 (e-PCR)
- UniSTS:423

RH11678 (e-PCR)
- UniSTS:33975

SHGC-132399 (e-PCR)
- UniSTS:181944

SHGC-2664 (e-PCR)
- UniSTS:14543

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables structural constituent of ribosome	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in mitochondrial translation	NAS Non-traceable Author Statement more info	PubMed
involved_in translation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
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	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
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: large ribosomal subunit protein uL24m

Names: 39S ribosomal protein L24, mitochondrial; mitochondrial large ribosomal subunit protein uL24m

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_024540.4 → NP_078816.2 large ribosomal subunit protein uL24m

See identical proteins and their annotated locations for NP_078816.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. It encodes the same protein as variant 1.

Source sequence(s)

AA730909, BC012440

Consensus CDS

CCDS1155.1

UniProtKB/Swiss-Prot

D3DVC8, Q53G65, Q53HT0, Q5SYZ9, Q5SZ00, Q5SZ02, Q96A35, Q96Q70, Q9H7G3

UniProtKB/TrEMBL

X6RJ73

Related

ENSP00000357194.4, ENST00000368211.8

Conserved Domains (1) summary

cd06089
Location:59 → 122

KOW_RPL26; KOW motif of Ribosomal Protein L26
NM_145729.3 → NP_663781.1 large ribosomal subunit protein uL24m

See identical proteins and their annotated locations for NP_663781.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the longer transcript and it encodes the same protein as variant 2.

Source sequence(s)

AA730909, BC016700, BG706700

Consensus CDS

CCDS1155.1

UniProtKB/Swiss-Prot

D3DVC8, Q53G65, Q53HT0, Q5SYZ9, Q5SZ00, Q5SZ02, Q96A35, Q96Q70, Q9H7G3

UniProtKB/TrEMBL

X6RJ73

Related

ENSP00000354525.2, ENST00000361531.6

Conserved Domains (1) summary

cd06089
Location:59 → 122

KOW_RPL26; KOW motif of Ribosomal Protein L26