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Aliases for LYRM7 Gene

Aliases for LYRM7 Gene

  • LYR Motif Containing 7 2 3 5
  • LYR Motif-Containing Protein 7 3 4
  • C5orf31 3 4
  • MZM1L 3 4
  • Chromosome 5 Open Reading Frame 31 2
  • Complex III Assembly Factor LYRM7 3
  • Lyrm7 Homolog (Mouse) 2
  • Lyrm7 Homolog 3
  • MC3DN8 3

External Ids for LYRM7 Gene

Previous HGNC Symbols for LYRM7 Gene

  • C5orf31

Previous GeneCards Identifiers for LYRM7 Gene

  • GC05P130536
  • GC05P125697

Summaries for LYRM7 Gene

Entrez Gene Summary for LYRM7 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]

GeneCards Summary for LYRM7 Gene

LYRM7 (LYR Motif Containing 7) is a Protein Coding gene. Diseases associated with LYRM7 include Mitochondrial Complex Iii Deficiency, Nuclear Type 8 and Mitochondrial Complex Iii Deficiency.

UniProtKB/Swiss-Prot for LYRM7 Gene

  • 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LYRM7 Gene

Genomics for LYRM7 Gene

Regulatory Elements for LYRM7 Gene

Enhancers for LYRM7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G131223 1.5 FANTOM5 Ensembl ENCODE 21.2 +53.9 53851 2.4 HDGF TBP PKNOX1 TBL1XR1 SIN3A BMI1 EGR1 CBX5 ZNF143 ZNF207 LYRM7 HINT1 RAPGEF6 ACSL6 GC05P131204 CDC42SE2
GH05G131373 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +207.9 207922 12.8 HDGF PKNOX1 FOXA2 CREB3L1 ARNT SIN3A ARID4B ZNF766 ZNF143 ZNF207 MEIKIN HINT1 LYRM7 CDC42SE2 P4HA2 FNIP1 RAPGEF6 ACSL6 GC05P131366 LOC105379173
GH05G131208 1.1 Ensembl ENCODE 21.5 +40.3 40255 5.2 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 BMI1 RAD21 ZBTB40 CBX5 SCRT2 LYRM7 HINT1 RAPGEF6 GC05P131204 CDC42SE2
GH05G131262 1.3 ENCODE dbSUPER 17.4 +94.5 94488 6.0 HDGF HNRNPUL1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143 MEIKIN LYRM7 HINT1 ENSG00000279370 GC05P131301
GH05G131249 1.3 Ensembl ENCODE dbSUPER 16.3 +82.0 81983 5.8 HDGF MXI1 ETV1 MAX CEBPG YBX1 ZBTB40 RELA ZNF766 GATA2 MEIKIN LYRM7 HINT1 CDC42SE2 ENSG00000279370
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LYRM7 on UCSC Golden Path with GeneCards custom track

Promoters for LYRM7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000186671 -10 1601 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A YY1 SLC30A9 ZNF766 ZNF143

Genomic Location for LYRM7 Gene

Chromosome:
5
Start:
131,170,810 bp from pter
End:
131,205,426 bp from pter
Size:
34,617 bases
Orientation:
Plus strand

Genomic View for LYRM7 Gene

Genes around LYRM7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LYRM7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LYRM7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LYRM7 Gene

Proteins for LYRM7 Gene

  • Protein details for LYRM7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5U5X0-LYRM7_HUMAN
    Recommended name:
    Complex III assembly factor LYRM7
    Protein Accession:
    Q5U5X0
    Secondary Accessions:
    • A8MPQ9
    • Q86Y68

    Protein attributes for LYRM7 Gene

    Size:
    104 amino acids
    Molecular mass:
    11955 Da
    Quaternary structure:
    • Interacts with UQCRFS1.

neXtProt entry for LYRM7 Gene

Post-translational modifications for LYRM7 Gene

  • Ubiquitination at Lys6, posLast=8282, and posLast=8787
  • Modification sites at PhosphoSitePlus

Other Protein References for LYRM7 Gene

No data available for DME Specific Peptides for LYRM7 Gene

Domains & Families for LYRM7 Gene

Gene Families for LYRM7 Gene

Protein Domains for LYRM7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LYRM7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5U5X0

UniProtKB/Swiss-Prot:

LYRM7_HUMAN :
  • Belongs to the complex I LYR family.
Family:
  • Belongs to the complex I LYR family.
genes like me logo Genes that share domains with LYRM7: view

Function for LYRM7 Gene

Molecular function for LYRM7 Gene

UniProtKB/Swiss-Prot Function:
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.
genes like me logo Genes that share phenotypes with LYRM7: view

Human Phenotype Ontology for LYRM7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for LYRM7 Gene

miRTarBase miRNAs that target LYRM7

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for LYRM7 Gene

Localization for LYRM7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LYRM7 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LYRM7 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for LYRM7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with LYRM7: view

Pathways & Interactions for LYRM7 Gene

SuperPathways for LYRM7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LYRM7 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LYRM7 Gene

Drugs & Compounds for LYRM7 Gene

No Compound Related Data Available

Transcripts for LYRM7 Gene

Unigene Clusters for LYRM7 Gene

LYR motif containing 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LYRM7 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d
SP1:
SP2:
SP3: -
SP4: -
SP5: - -

Relevant External Links for LYRM7 Gene

GeneLoc Exon Structure for
LYRM7
ECgene alternative splicing isoforms for
LYRM7

Expression for LYRM7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LYRM7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LYRM7 Gene

This gene is overexpressed in Lung (12.5), Peripheral blood mononuclear cells (6.5), and Frontal cortex (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LYRM7 Gene



Protein tissue co-expression partners for LYRM7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LYRM7 Gene:

LYRM7

SOURCE GeneReport for Unigene cluster for LYRM7 Gene:

Hs.115467

Evidence on tissue expression from TISSUES for LYRM7 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LYRM7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • larynx
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • testicle
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with LYRM7: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LYRM7 Gene

Orthologs for LYRM7 Gene

This gene was present in the common ancestor of animals.

Orthologs for LYRM7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LYRM7 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia LYRM7 34 35
  • 94.23 (n)
cow
(Bos Taurus)
Mammalia LYRM7 34 35
  • 93.91 (n)
rat
(Rattus norvegicus)
Mammalia Lyrm7 34
  • 87.06 (n)
mouse
(Mus musculus)
Mammalia Lyrm7 34 16 35
  • 86.22 (n)
oppossum
(Monodelphis domestica)
Mammalia LYRM7 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves LYRM7 34
  • 72 (n)
lizard
(Anolis carolinensis)
Reptilia LYRM7 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lyrm7 34
  • 69.33 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:165597 34
  • 61.81 (n)
LYRM7 35
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG34150 35
  • 31 (a)
OneToOne
Species where no ortholog for LYRM7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LYRM7 Gene

ENSEMBL:
Gene Tree for LYRM7 (if available)
TreeFam:
Gene Tree for LYRM7 (if available)

Paralogs for LYRM7 Gene

No data available for Paralogs for LYRM7 Gene

Variants for LYRM7 Gene

Sequence variations from dbSNP and Humsavar for LYRM7 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs587777433 Pathogenic, Mitochondrial complex III deficiency, nuclear 8 (MC3DN8) [MIM:615838] 131,180,149(+) AAAAT(A/G)ATGCC nc-transcript-variant, reference, missense
rs869025602 Pathogenic 131,187,114(+) GTAAG(-/G)TAAAA intron-variant
rs869025603 Pathogenic 131,187,060(+) TATTA(-/TTA)CTCAG intron-variant, cds-indel
rs869025604 Pathogenic 131,187,079(+) TTATA(C/T)AAGGT intron-variant, reference, stop-gained
rs869025605 Pathogenic 131,180,113(+) TTAAA(-/A)CACTG nc-transcript-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for LYRM7 Gene

Variant ID Type Subtype PubMed ID
dgv5808n100 CNV gain 25217958
esv2759379 CNV gain 17122850
esv3575881 CNV gain 25503493

Variation tolerance for LYRM7 Gene

Residual Variation Intolerance Score: 47.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LYRM7 Gene

Human Gene Mutation Database (HGMD)
LYRM7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LYRM7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LYRM7 Gene

Disorders for LYRM7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for LYRM7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 8
  • mitochondrial complex iii deficiency nuclear type 8
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
mitochondrial respiratory chain complex iii deficiency, lyrm7-related
  • mitochondrial complex iii deficiency, nuclear type 8
- elite association - COSMIC cancer census association via MalaCards
Search LYRM7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LYRM7_HUMAN
  • Mitochondrial complex III deficiency, nuclear 8 (MC3DN8) [MIM:615838]: A 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. {ECO:0000269 PubMed:24014394}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LYRM7

Genetic Association Database (GAD)
LYRM7
Human Genome Epidemiology (HuGE) Navigator
LYRM7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LYRM7
genes like me logo Genes that share disorders with LYRM7: view

No data available for Genatlas for LYRM7 Gene

Publications for LYRM7 Gene

  1. LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells. (PMID: 23168492) Sanchez E. … Fernandez-Vizarra E. (Biochim. Biophys. Acta 2013) 2 3 4 64
  2. A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. (PMID: 24014394) Invernizzi F. … Zeviani M. (Hum. Mutat. 2013) 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for LYRM7 Gene

Sources for LYRM7 Gene

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