MRPL58 mitochondrial ribosomal protein L58 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MRPL58provided by HGNC
Official Full Name: mitochondrial ribosomal protein L58provided by HGNC
Primary source: HGNC:HGNC:5359
See related: Ensembl:ENSG00000167862 MIM:603000; AllianceGenome:HGNC:5359
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: DS1; DS-1; ICT1; mL62; MRP-L58
Summary: The protein encoded by this gene is a peptidyl-tRNA hydrolase and a vital component of the large mitochondrial ribosome. The encoded protein serves as a ribosome release factor for this ribosome, which translates mitochondrial genes. This protein may be responsible for degrading prematurely-terminated polypeptides and for reusing stalled ribosomes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
Expression: Ubiquitous expression in heart (RPKM 10.6), kidney (RPKM 10.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (75012670..75021261)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (75904464..75913007)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (73008765..73017356)

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
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?

ICT1 Promotes Osteosarcoma Cell Proliferation and Inhibits Apoptosis via STAT3/BCL-2 Pathway.
Title: ICT1 Promotes Osteosarcoma Cell Proliferation and Inhibits Apoptosis via STAT3/BCL-2 Pathway.
miR-1301-3p inhibits cell proliferation via inducing cell cycle arrest and apoptosis through targeting ICT1, and might be a therapeutic target for BC.
Title: MiR-1301-3p inhibits human breast cancer cell proliferation by regulating cell cycle progression and apoptosis through directly targeting ICT1.
High ICT1 expression is associated with leukemia.
Title: Knockdown of immature colon carcinoma transcript 1 induces suppression of proliferation, S-phase arrest and apoptosis in leukemia cells.
ICT1 overexpression notably predicted poor prognosis of gastric cancer patients.
Title: miR-205 regulation of ICT1 has an oncogenic potential via promoting the migration and invasion of gastric cancer cells.
Study demonstrates that ICT1 overexpression correlates with malignant clinical features and poor prognosis of hepatocellular carcinoma (HCC) patients. Functionally, ICT1 promotes proliferation, cell cycle progression and inhibits apoptosis of HCC cells. ICT1 regulates the expressions of CDK1, cyclin B1, Bcl-2 and Bax, and is directly targeted by microRNA-134 (miR-134) in HCC cells.
Title: Immature colon carcinoma transcript-1 promotes cell growth of hepatocellular carcinoma via facilitating cell cycle progression and apoptosis resistance.
ICT1 may play a crucial role in promoting gastric cancer proliferation in vitro.
Title: Immature colon carcinoma transcript-1 promotes proliferation of gastric cancer cells.
The results provide direct evidence that localized feedbacks on Fat4-Ds1 complexes can give rise to planar cell polarity.
Title: A synthetic planar cell polarity system reveals localized feedback on Fat4-Ds1 complexes.
our preliminary study reveals the important role of ICT1 in NSCLC cells that knockdown of ICT1 significantly suppressed cell proliferation, arrested cell cycle though altering expression cell cycle regulators, and promoted cell apoptosis.
Title: Knockdown of Immature Colon Carcinoma Transcript 1 Inhibits Proliferation and Promotes Apoptosis of Non-Small Cell Lung Cancer Cells.
ICT1 knockdown significantly inhibited cell proliferation and migration, led to G2/M phase cell-cycle arrest, and triggered apoptosis via the intracellular AMPKa, SAPK/JNK, and PARP signaling pathways.
Title: Immature Colon Carcinoma Transcript-1 (ICT1) Expression Correlates with Unfavorable Prognosis and Survival in Patients with Colorectal Cancer.
ICT1 was significantly upregulated in diffuse large B-cell lymphoma tissues (DLBCL) and correlated with poor survival. Knockdown of ICT1 remarkably induced cell cycle G0/G phase arrest and apoptosis in DLBCL cells.
Title: ICT1 predicts a poor survival and correlated with cell proliferation in diffuse large B-cell lymphoma.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

RH79169 (e-PCR)
- UniSTS:18197

RH79935 (e-PCR)
- UniSTS:87493

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aminoacyl-tRNA hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aminoacyl-tRNA hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables translation release factor activity, codon nonspecific	IBA Inferred from Biological aspect of Ancestor more info
enables translation release factor activity, codon nonspecific	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial translation	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial translational termination	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial translational termination	IDA Inferred from Direct Assay more info	PubMed
involved_in rescue of stalled ribosome	IDA Inferred from Direct Assay 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 mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: large ribosomal subunit protein mL62

Names: 39S ribosomal protein L58, mitochondrial; digestion substraction 1; immature colon carcinoma transcript 1 protein; mitochondrial large ribosomal subunit protein ICT1; mitochondrial large ribosomal subunit protein mL62; peptidyl-tRNA hydrolase ICT1, mitochondrial

NP_001290194.1

EC 3.1.1.29

NP_001536.1

EC 3.1.1.29

XP_016880063.1

EC 3.1.1.29

XP_054171913.1

EC 3.1.1.29

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_001303265.2 → NP_001290194.1 large ribosomal subunit protein mL62 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice junction in the 3' coding region compared to variant 1, that causes a frameshift. The resulting isoform (2) has a longer and distinct C-terminus compared to isoform 1.

Source sequence(s)

BC015335, BI870683, DB456649

UniProtKB/Swiss-Prot

Q14197

Conserved Domains (1) summary

cl23917
Location:72 → 170

RF-1; RF-1 domain
NM_001545.3 → NP_001536.1 large ribosomal subunit protein mL62 isoform 1 precursor

See identical proteins and their annotated locations for NP_001536.1

Status: REVIEWED

Description

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

Source sequence(s)

BC015335, DB456649

Consensus CDS

CCDS11711.1

UniProtKB/Swiss-Prot

B2RAD1, Q14197, Q53HM7, Q53Y11

UniProtKB/TrEMBL

J3KS15

Related

ENSP00000301585.5, ENST00000301585.10

Conserved Domains (1) summary

cl29584
Location:72 → 202

RF-1; RF-1 domain