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Protein

LYR motif-containing protein 4

Gene

LYRM4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for nuclear and mitochondrial iron-sulfur protein biosynthesis.2 Publications

Miscellaneous

Reduction of LYRM4 levels by siRNA increases the total iron content, and reduces cytosolic and mitochondrial aconitase activities and NFS1 protein levels.

Pathwayi: iron-sulfur cluster biosynthesis

This protein is involved in the pathway iron-sulfur cluster biosynthesis, which is part of Cofactor biosynthesis.
View all proteins of this organism that are known to be involved in the pathway iron-sulfur cluster biosynthesis and in Cofactor biosynthesis.

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-1362409. Mitochondrial iron-sulfur cluster biogenesis.
UniPathwayiUPA00266.

Names & Taxonomyi

Protein namesi
Recommended name:
LYR motif-containing protein 4
Gene namesi
Name:LYRM4
Synonyms:C6orf149, ISD11
ORF Names:CGI-203
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000214113.10.
HGNCiHGNC:21365. LYRM4.

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, Nucleus

Pathology & Biotechi

Involvement in diseasei

Combined oxidative phosphorylation deficiency 19 (COXPD19)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA mitochondrial disorder characterized by respiratory distress, hypotonia, and severe lactic acidosis in the newborn period. Other features include gastroesophageal reflux and elevated liver enzymes with normal synthetic function.
See also OMIM:615595
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07094368R → L in COXPD19; can form a normal complex with NFS1 but the desulfurase enzymatic activity of this complex is severely decreased compared to control. 1 PublicationCorresponds to variant dbSNP:rs587777218Ensembl.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi57128.
MalaCardsiLYRM4.
MIMi615595. phenotype.
OpenTargetsiENSG00000214113.
Orphaneti397593. Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency.
PharmGKBiPA162394762.

Polymorphism and mutation databases

BioMutaiLYRM4.
DMDMi46576652.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001743081 – 91LYR motif-containing protein 4Add BLAST91

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei47N6-succinyllysineBy similarity1

Proteomic databases

EPDiQ9HD34.
MaxQBiQ9HD34.
PaxDbiQ9HD34.
PeptideAtlasiQ9HD34.
PRIDEiQ9HD34.
TopDownProteomicsiQ9HD34.

PTM databases

iPTMnetiQ9HD34.
PhosphoSitePlusiQ9HD34.

Expressioni

Tissue specificityi

Reduced mRNA levels in Friedreich ataxia patients.1 Publication

Gene expression databases

BgeeiENSG00000214113.
CleanExiHS_LYRM4.
ExpressionAtlasiQ9HD34. baseline and differential.
GenevisibleiQ9HD34. HS.

Organism-specific databases

HPAiHPA030362.

Interactioni

Subunit structurei

Interacts with FXN. Interaction is increased by nickel. Interaction is inhibited by calcium, magnesium, manganese, copper, cobalt, zinc, and iron. Forms a complex with the cytosolic/nuclear form of NFS1. The complex increased the stability of NFS1.3 Publications

Protein-protein interaction databases

BioGridi121391. 23 interactors.
CORUMiQ9HD34.
IntActiQ9HD34. 3 interactors.
STRINGi9606.ENSP00000443900.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5USRX-ray3.09B/D/F/H1-91[»]
ProteinModelPortaliQ9HD34.
SMRiQ9HD34.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I LYR family.Curated

Phylogenomic databases

eggNOGiKOG3801. Eukaryota.
ENOG41124X5. LUCA.
GeneTreeiENSGT00390000001425.
HOGENOMiHOG000038164.
HOVERGENiHBG050915.
InParanoidiQ9HD34.
OMAiIIGHLYT.
PhylomeDBiQ9HD34.

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

Q9HD34-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAASSRAQVL SLYRAMLRES KRFSAYNYRT YAVRRIRDAF RENKNVKDPV
60 70 80 90
EIQTLVNKAK RDLGVIRRQV HIGQLYSTDK LIIENRDMPR T
Length:91
Mass (Da):10,758
Last modified:March 1, 2001 - v1
Checksum:iF0C5919CA701F3F3
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02455111S → A1 PublicationCorresponds to variant dbSNP:rs2224391Ensembl.1
Natural variantiVAR_07094368R → L in COXPD19; can form a normal complex with NFS1 but the desulfurase enzymatic activity of this complex is severely decreased compared to control. 1 PublicationCorresponds to variant dbSNP:rs587777218Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF285118 mRNA. Translation: AAG01155.1.
AF170070 mRNA. Translation: AAF25797.1.
AK291158 mRNA. Translation: BAF83847.1.
AL035653 Genomic DNA. No translation available.
AL121978 Genomic DNA. No translation available.
AL162381 Genomic DNA. No translation available.
BC009552 mRNA. Translation: AAH09552.1.
CCDSiCCDS4493.1.
RefSeqiNP_001158313.1. NM_001164841.2.
NP_065141.3. NM_020408.5.
UniGeneiHs.387755.

Genome annotation databases

EnsembliENST00000330636; ENSP00000418787; ENSG00000214113.
GeneIDi57128.
KEGGihsa:57128.
UCSCiuc003mwp.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLYRM4_HUMAN
AccessioniPrimary (citable) accession number: Q9HD34
Secondary accession number(s): A8K543, Q5XKP1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 26, 2004
Last sequence update: March 1, 2001
Last modified: September 27, 2017
This is version 123 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families