MRPL40 mitochondrial ribosomal protein L40 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MRPL40provided by HGNC
Official Full Name: mitochondrial ribosomal protein L40provided by HGNC
Primary source: HGNC:HGNC:14491
See related: Ensembl:ENSG00000185608 MIM:605089; AllianceGenome:HGNC:14491
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: URIM; mL40; L40mt; NLVCF; MRPL22; MRP-L22; MRP-L40
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. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 13.6), heart (RPKM 10.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (19432545..19436075)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (19809376..19812906)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (19420068..19423598)

Chromosome 22 - NC_000022.11 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
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?

Mitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia.
Title: Mitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80191 (e-PCR)
- UniSTS:91650

RH77808 (e-PCR)
- UniSTS:30468

GDB:434012 (e-PCR)
- UniSTS:157204

D8S2279 (e-PCR)
- UniSTS:473907

D1S1361 (e-PCR)
- UniSTS:149557

D11S3114 (e-PCR)
- UniSTS:152207

D16S325 (e-PCR)
- UniSTS:147089

RH65277 (e-PCR)
- UniSTS:89747

WI-21007 (e-PCR)
- UniSTS:20440

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in mitochondrial translation	NAS Non-traceable Author Statement more info	PubMed

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
is_active_in mitochondrial ribosome	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial ribosome	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: large ribosomal subunit protein mL40

Names: 39S ribosomal protein L40, mitochondrial; mitochondrial large ribosomal subunit protein mL40; nuclear localization signal-containing protein deleted in velocardiofacial syndrome; up-regulated in metastasis

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_001318151.2 → NP_001305080.1 large ribosomal subunit protein mL40 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus and lacks the predicted mitochondrial transit peptide compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).

Source sequence(s)

BM974354, BX382916, CN409565

Related

ENST00000443660.5

Conserved Domains (1) summary

pfam09812
Location:1 → 139

MRP-L28; Mitochondrial ribosomal protein L28
NM_003776.4 → NP_003767.2 large ribosomal subunit protein mL40 isoform 1

See identical proteins and their annotated locations for NP_003767.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

BC009707

Consensus CDS

CCDS13760.1

UniProtKB/Swiss-Prot

B3KVZ7, O95134, Q9NQ50

Related

ENSP00000333401.3, ENST00000333130.4

Conserved Domains (1) summary

pfam09812
Location:45 → 199

MRP-L28; Mitochondrial ribosomal protein L28

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

19432545..19436075

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

19809376..19812906

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001318152.1: Suppressed sequence

Description

NM_001318152.1: This RefSeq was removed because currently there is insufficient support for the transcript.