LYRM7

Protein identityUniProt · HPA

UniProt accession

Q5U5X0

Gene

LYRM7

Ensembl

ENSG00000186687

Chromosome

5

Canonical length

104 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

104 residues, UniProt reviewed canonical sequence.

>Q5U5X0|LYRM7
     1  MGRAVKVLQL FKTLHRTRQQ VFKNDARALE AARIKINEEF KNNKSETSSK KIEELMKIGS
    61  DVELLLRTSV IQGIHTDHNT LKLVPRKDLL VENVPYCDAP TQKQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LYRM7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.43

Highest tissue expression

32 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LYRM7.

Disease | AllUniProt

Conditions LYRM7 is implicated in, by any mechanism.

• Mitochondrial complex III deficiency, nuclear type 8 (MC3DN8) MIM:615838

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 97 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex III deficiency nuclear type 8
• Mitochondrial complex III deficiency nuclear type 1
• Ovarian cancer
• Sarcoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.44

gnomAD pLI

0.02

gnomAD missense Z

0.74

DepMap mean gene effect

-0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular respiration
• mitochondrial respiratory chain complex III assembly

Molecular functions

• protein folding chaperone

Cellular components

• mitochondrial matrix
• mitochondrial membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Complex 1 LYR protein domain
• Complex 1 protein (LYR family)
• LYRM7, LYR domain
• Mitochondrial Zinc Maintenance Protein 1 / LYRM7

KeywordsUniProt

• Chaperone
• Mitochondrion
• Phosphoprotein
• Primary mitochondrial disease

InteractionsUniProt · HPA

Protein binding partners of LYRM7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• UQCRFS1
• HSCB