MALSU1 mitochondrial assembly of ribosomal large subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MALSU1provided by HGNC
Official Full Name: mitochondrial assembly of ribosomal large subunit 1provided by HGNC
Primary source: HGNC:HGNC:21721
See related: Ensembl:ENSG00000156928 MIM:614624; AllianceGenome:HGNC:21721
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: mtRsfA; C7orf30
Summary: Enables mitochondrial large ribosomal subunit binding activity. Involved in negative regulation of mitochondrial translation and ribosomal large subunit biogenesis. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in kidney (RPKM 9.8), fat (RPKM 9.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p15.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (23299339..23311729)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (23435779..23448169)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (23338958..23351348)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

C7orf30 promotes incorporation of MRPL14 into the mitochondrial large ribosomal subunit.
Title: The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation.
C7orf30 is a novel human gene indispensable for mitochondrial translation, most probably via its contribution to the biogenesis of the large subunit of the mitochondrial ribosome.
Title: C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome.
C7orf30 is proposed to be involved in ribosomal large subunit function.
Title: C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation.

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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

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

D7S2309 (e-PCR)
- UniSTS:69160

D7S2395 (e-PCR)
- UniSTS:36681

RH65486 (e-PCR)
- UniSTS:85324

RH18504 (e-PCR)
- UniSTS:19341

RH77863 (e-PCR)
- UniSTS:70833

RH36584 (e-PCR)
- UniSTS:83651

RH68002 (e-PCR)
- UniSTS:65993

D7S1891 (e-PCR)
- UniSTS:5882

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables mitochondrial large ribosomal subunit binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribosomal large subunit binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in negative regulation of mitochondrial translation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ribosome biogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribosomal large subunit biogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
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: mitochondrial assembly of ribosomal large subunit 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.