LYRM7 LYR motif containing 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LYRM7provided by HGNC
Official Full Name: LYR motif containing 7provided by HGNC
Primary source: HGNC:HGNC:28072
See related: Ensembl:ENSG00000186687 MIM:615831; AllianceGenome:HGNC:28072
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: MZM1L; MC3DN8; C5orf31
Summary: Inner mitochondrial membrane complex III (CIII) is the main enzyme complex in the mitochondrial respiratory chain, and Rieske Fe-S protein (UQCRFS1) is the last catalytic subunit added to the complex. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix protein that stabilizes UQCRFS1 and chaperones it to the CIII complex. Defects in this gene are a cause of mitochondrial complex III deficiency, nuclear type 8. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Expression: Ubiquitous expression in brain (RPKM 5.8), thyroid (RPKM 4.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q23.3-q31.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (131170944..131205428)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (131689921..131724424)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (130506637..130541121)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TNF-alpha induced NF-kappaB mediated LYRM7 expression modulates the tumor growth and metastatic ability in breast cancer.
Title: TNF-α induced NF-κB mediated LYRM7 expression modulates the tumor growth and metastatic ability in breast cancer.
The authors identified homozygosity for a splice site destroying 4 base pair deletion in LYRM7 in a child with recurrent lactic acidotic crises and distinct early-onset leukencephalopathy.
Title: LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.
In multifocal cavitating leukoencephalopathy patients, LYRm7 mutations were identified associated with distinct MRI appearances.
Title: LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
LYRM7/MZM1L is a novel disease gene, causing cIII-defective, early onset, severe mitochondrial encephalopathy.
Title: A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.
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

Associated conditions

Description	Tests
Mitochondrial complex III deficiency nuclear type 8 MedGen: C4014440 OMIM: 615838 GeneReviews: Not available	Compare labs

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

D11S2921 (e-PCR)
- UniSTS:152074

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

D11S2560 (e-PCR)
- UniSTS:37928

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

D11S3114 (e-PCR)
- UniSTS:152207

GDB:1318710 (e-PCR)
- UniSTS:11417

D5S666 (e-PCR), detects polymorphism
- UniSTS:13998

L17809 (e-PCR)
- UniSTS:39087

RH78570 (e-PCR)
- UniSTS:68016

STS-N53458 (e-PCR)
- UniSTS:18122

GDB:631802 (e-PCR)
- UniSTS:158429

A008S03 (e-PCR)
- UniSTS:41710

D22S958 (e-PCR)
- UniSTS:259319

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein folding chaperone	IBA Inferred from Biological aspect of Ancestor more info
enables protein folding chaperone	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in cellular respiration	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial respiratory chain complex III assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial respiratory chain complex III assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial respiratory chain complex III assembly	TAS Traceable Author Statement more info
involved_in protein folding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: complex III assembly factor LYRM7

Names: LYR motif-containing protein 7; Lyrm7 homolog

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.

Genomic

NG_034163.1 RefSeqGene

Range

5031..39515

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001293735.2 → NP_001280664.1 complex III assembly factor LYRM7 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC005179, BG714193, DA996312

Consensus CDS

CCDS78057.1

UniProtKB/TrEMBL

D6RBV5

Related

ENSP00000423991.1, ENST00000507584.1

Conserved Domains (1) summary

cl05087
Location:6 → 63

Complex1_LYR; Complex 1 protein (LYR family)
NM_181705.4 → NP_859056.2 complex III assembly factor LYRM7 isoform 1

See identical proteins and their annotated locations for NP_859056.2

Status: REVIEWED

Description

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

Source sequence(s)

AC005179, AK000803

Consensus CDS

CCDS4148.1

UniProtKB/Swiss-Prot

A8MPQ9, Q5U5X0, Q86Y68

Related

ENSP00000368688.4, ENST00000379380.9

Conserved Domains (1) summary

cd20267
Location:7 → 77

Complex1_LYR_LYRM7; LYR (leucine-tyrosine-arginine) motif found in LYR motif-containing protein 7 (LYRM7) and similar proteins

RNA

NR_121658.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate exons compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AC005179, BI667583