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Protein

Complex III assembly factor LYRM7

Gene

LYRM7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

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:rs587777433Ensembl.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.
TopDownProteomicsiQ5U5X0.

PTM databases

iPTMnetiQ5U5X0.
PhosphoSitePlusiQ5U5X0.

Expressioni

Gene expression databases

BgeeiENSG00000186687.
CleanExiHS_LYRM7.
ExpressionAtlasiQ5U5X0. baseline and differential.
GenevisibleiQ5U5X0. HS.

Organism-specific databases

HPAiHPA050053.

Interactioni

Subunit structurei

Interacts with UQCRFS1.

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi124742. 23 interactors.
DIPiDIP-62113N.
IntActiQ5U5X0. 4 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.

Sequencei

Sequence statusi: Complete.

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

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:rs587777433Ensembl.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 27, 2017
This is version 91 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

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families