MRPL33 mitochondrial ribosomal protein L33 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MRPL33provided by HGNC
Official Full Name: mitochondrial ribosomal protein L33provided by HGNC
Primary source: HGNC:HGNC:14487
See related: Ensembl:ENSG00000243147 MIM:610059; AllianceGenome:HGNC:14487
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: L33mt; C2orf1; RPL33L; MRP-L33
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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 150.4), kidney (RPKM 51.5) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (27771719..27779733)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (27814872..27822886)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (27994586..28002600)

Chromosome 2 - NC_000002.12 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?

Study revealed that isoforms S and L of MRPL33, which arise from alternative splicing, exhibited opposing roles in the chemoresponse to epirubicin in gastric cancer via the PI3K/AKT signaling pathway.
Title: Isoforms S and L of MRPL33 from alternative splicing have isoform‑specific roles in the chemoresponse to epirubicin in gastric cancer cells via the PI3K/AKT signaling pathway.
Study findings underscore the biological significance of MRPL33-L and hnRNPK in the tumor formation and identifies hnRNPK as a critical splicing regulator of MRPL33 pre-mRNA in cancer cells.
Title: MRPL33 and its splicing regulator hnRNPK are required for mitochondria function and implicated in tumor progression.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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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

EBI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH123855 (e-PCR)
- UniSTS:136197

SHGC-33508 (e-PCR)
- UniSTS:30011

RH93441 (e-PCR)
- UniSTS:86342

D2S1513E (e-PCR)
- UniSTS:150609

A006U25 (e-PCR)
- UniSTS:57223

RH122441 (e-PCR)
- UniSTS:135312

RH41957 (e-PCR)
- UniSTS:88809

Homology

Homologs of the MRPL33 gene: The MRPL33 gene is conserved in chimpanzee, Rhesus monkey, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 445 organisms have orthologs with human gene MRPL33
Orthologs

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in mitochondrial translation	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IC Inferred by Curator more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
part_of mitochondrial large ribosomal subunit	IC Inferred by Curator more info	PubMed
part_of mitochondrial large ribosomal subunit	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: 39S ribosomal protein L33, mitochondrial

Names: mitochondrial large ribosomal subunit protein bL33m

NP_004882.1

EC 3.6.5.3

NP_663303.1

EC 3.6.5.3

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_004891.4 → NP_004882.1 39S ribosomal protein L33, mitochondrial isoform a

See identical proteins and their annotated locations for NP_004882.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AA836397, BC020834, BC090047

Consensus CDS

CCDS1761.1

UniProtKB/Swiss-Prot

O75394, Q96Q50

Related

ENSP00000296102.3, ENST00000296102.8

Conserved Domains (1) summary

pfam00471
Location:17 → 60

Ribosomal_L33; Ribosomal protein L33
NM_145330.3 → NP_663303.1 39S ribosomal protein L33, mitochondrial isoform b

See identical proteins and their annotated locations for NP_663303.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal segment, compared to variant 1, that causes a frameshift. It is not known if a protein product is made from this variant.

Source sequence(s)

BC090047

Consensus CDS

CCDS33167.1

UniProtKB/Swiss-Prot

O75394

Related

ENSP00000368988.3, ENST00000379666.7