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Protein

Complex III assembly factor LYRM7

Gene

LYRM7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. Functions as a chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII dimeric intermediate within the mitochondrial inner membrane.1 Publication

GO - Biological processi

  • cellular respiration Source: UniProtKB
  • mitochondrial respiratory chain complex III assembly Source: UniProtKB

Keywordsi

Molecular functionChaperone

Names & Taxonomyi

Protein namesi
Recommended name:
Complex III assembly factor LYRM7
Alternative name(s):
LYR motif-containing protein 7
Gene namesi
Name:LYRM7
Synonyms:C5orf31, MZM1L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000186687.15
HGNCiHGNC:28072 LYRM7
MIMi615831 gene
neXtProtiNX_Q5U5X0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex III deficiency, nuclear 8 (MC3DN8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.
See also OMIM:615838
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07118725D → N in MC3DN8; results in impaired incorporation of the Rieske Fe-S protein into the CIII complex. 1 PublicationCorresponds to variant dbSNP:rs587777433EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi90624
MalaCardsiLYRM7
MIMi615838 phenotype
OpenTargetsiENSG00000186687
Orphaneti1460 Isolated CoQ-cytochrome C reductase deficiency
PharmGKBiPA162394784

Polymorphism and mutation databases

BioMutaiLYRM7
DMDMi74736191

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002511791 – 104Complex III assembly factor LYRM7Add BLAST104

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei60PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5U5X0
MaxQBiQ5U5X0
PaxDbiQ5U5X0
PeptideAtlasiQ5U5X0
PRIDEiQ5U5X0
ProteomicsDBi65232
TopDownProteomicsiQ5U5X0

PTM databases

iPTMnetiQ5U5X0
PhosphoSitePlusiQ5U5X0

Expressioni

Gene expression databases

BgeeiENSG00000186687 Expressed in 214 organ(s), highest expression level in quadriceps femoris
CleanExiHS_LYRM7
ExpressionAtlasiQ5U5X0 baseline and differential
GenevisibleiQ5U5X0 HS

Organism-specific databases

HPAiHPA050053

Interactioni

Subunit structurei

Interacts with UQCRFS1.

Binary interactionsi

Protein-protein interaction databases

BioGridi124742, 24 interactors
DIPiDIP-62113N
IntActiQ5U5X0, 8 interactors
STRINGi9606.ENSP00000368688

Structurei

3D structure databases

ProteinModelPortaliQ5U5X0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I LYR family.Curated

Phylogenomic databases

eggNOGiENOG410J1AI Eukaryota
ENOG4112010 LUCA
GeneTreeiENSGT00390000017923
HOGENOMiHOG000171075
HOVERGENiHBG060195
InParanoidiQ5U5X0
KOiK18170
OMAiNVPYCDT
OrthoDBiEOG091G19N2
PhylomeDBiQ5U5X0
TreeFamiTF324418

Family and domain databases

InterProiView protein in InterPro
IPR008011 Complex1_LYR
PfamiView protein in Pfam
PF05347 Complex1_LYR, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.iShow all

Q5U5X0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGRAVKVLQL FKTLHRTRQQ VFKNDARALE AARIKINEEF KNNKSETSSK
60 70 80 90 100
KIEELMKIGS DVELLLRTSV IQGIHTDHNT LKLVPRKDLL VENVPYCDAP

TQKQ
Length:104
Mass (Da):11,955
Last modified:December 7, 2004 - v1
Checksum:iD112A2F54EFC7BCD
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RBV5D6RBV5_HUMAN
Complex III assembly factor LYRM7
LYRM7
63Annotation score:
D6R994D6R994_HUMAN
Complex III assembly factor LYRM7
LYRM7
53Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti62V → I in AAH47079 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07118725D → N in MC3DN8; results in impaired incorporation of the Rieske Fe-S protein into the CIII complex. 1 PublicationCorresponds to variant dbSNP:rs587777433EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC004650 Genomic DNA No translation available.
AC005179 Genomic DNA No translation available.
CH471062 Genomic DNA Translation: EAW62375.1
BC037930 mRNA Translation: AAH37930.1
BC047079 mRNA Translation: AAH47079.1
CCDSiCCDS4148.1
RefSeqiNP_859056.2, NM_181705.3
UniGeneiHs.115467

Genome annotation databases

EnsembliENST00000379380; ENSP00000368688; ENSG00000186687
GeneIDi90624
KEGGihsa:90624
UCSCiuc003kvg.2 human

Similar proteinsi

Entry informationi

Entry nameiLYRM7_HUMAN
AccessioniPrimary (citable) accession number: Q5U5X0
Secondary accession number(s): A8MPQ9, Q86Y68
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: December 7, 2004
Last modified: September 12, 2018
This is version 95 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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