MRPL47 mitochondrial ribosomal protein L47 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MRPL47provided by HGNC
Official Full Name: mitochondrial ribosomal protein L47provided by HGNC
Primary source: HGNC:HGNC:16652
See related: Ensembl:ENSG00000136522 MIM:611852; AllianceGenome:HGNC:16652
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: NCM1; L47mt; uL29m; CGI-204; MRP-L47
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. This gene is immediately adjacent to the gene for BAF complex 53 kDa subunit protein a (BAF53a), in a tail-to-tail orientation. Two transcript variants encoding different protein isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 23.3), heart (RPKM 16.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q26.33

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (179588285..179604646, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (182392124..182408486, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (179306073..179322434, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

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 Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-77570 (e-PCR)
- UniSTS:17682

MRPL47_2612 (e-PCR)
- UniSTS:280855

STS-N29372 (e-PCR)
- UniSTS:57268

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables structural constituent of ribosome	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in mitochondrial translation	IBA Inferred from Biological aspect of Ancestor more info
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	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 uL29m

Names: 39S ribosomal protein L47, mitochondrial; mitochondrial large ribosomal subunit protein uL29m; nasopharyngeal carcinoma metastasis-related 1; nasopharyngeal carcinoma metastasis-related protein 1

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_020409.3 → NP_065142.2 large ribosomal subunit protein uL29m isoform a

See identical proteins and their annotated locations for NP_065142.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the predominant transcript and it encodes isoform a.

Source sequence(s)

AC090425, AY212270, BC021575, BC032522

Consensus CDS

CCDS3232.1

UniProtKB/Swiss-Prot

Q6XRG1, Q8N5D1, Q9HD33

Related

ENSP00000417602.1, ENST00000476781.6

Conserved Domains (1) summary

pfam06984
Location:64 → 149

MRP-L47; Mitochondrial 39-S ribosomal protein L47 (MRP-L47)
NM_177988.1 → NP_817125.1 large ribosomal subunit protein uL29m isoform b

See identical proteins and their annotated locations for NP_817125.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate segment, compared to variant 1, which leads to the use of a downstream start codon. The predicted protein (isoform b) is shorter than isoform a. The predicted ORF of this transcript has not been experimentally confirmed.

Source sequence(s)

BC021575, BC032522

Consensus CDS

CCDS3233.1

UniProtKB/Swiss-Prot

Q9HD33

Related

ENSP00000376427.2, ENST00000392659.2

Conserved Domains (1) summary

cl09943
Location:1 → 39

Ribosomal_L29_HIP; Ribosomal L29 protein/HIP. L29 is a protein of the large ribosomal Subunit. A homolog, called heparin/heparan sulfate interacting protein (HIP), has also been identified in mammals. L29 is located on the surface of the large ribosomal subunit, where it ...