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    LYRM7 LYR motif containing 7 [ Homo sapiens (human) ]

    Gene ID: 90624, updated on 2-Nov-2024

    Summary

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    Official Symbol
    LYRM7provided by HGNC
    Official Full Name
    LYR motif containing 7provided by HGNC
    Primary source
    HGNC:HGNC:28072
    See related
    Ensembl:ENSG00000186687 MIM:615831; AllianceGenome:HGNC:28072
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MZM1L; MC3DN8; C5orf31
    Summary
    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]
    Expression
    Ubiquitous expression in brain (RPKM 5.8), thyroid (RPKM 4.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LYRM7 in Genome Data Viewer
    Location:
    5q23.3-q31.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (131170944..131205428)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (131689921..131724424)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (130506637..130541121)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379172 Neighboring gene NANOG hESC enhancer GRCh37_chr5:130400159-130400717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:130447686-130448186 Neighboring gene Sharpr-MPRA regulatory region 1831 Neighboring gene H3K27ac hESC enhancers GRCh37_chr5:130499678-130500338 and GRCh37_chr5:130500339-130500998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16303 Neighboring gene histidine triad nucleotide binding protein 1 Neighboring gene uncharacterized LOC124901061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23043 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23044 Neighboring gene CDC42 small effector 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16306 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16305 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16304 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:130600208-130601025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23047 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:130647474-130648282 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:130672926-130674125 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:130689616-130689914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23049 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:130696972-130697526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:130697527-130698081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23053 Neighboring gene uncharacterized LOC105379173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23054 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:130744412-130744593

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. Dallabona C, et al. Brain, 2016 Mar. PMID 26912632
    2. LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study. Hempel M, et al. Mitochondrion, 2017 Nov. PMID 28694194
    3. A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. Invernizzi F, et al. Hum Mutat, 2013 Dec. PMID 24014394, Free PMC Article
    4. TNF-α induced NF-κB mediated LYRM7 expression modulates the tumor growth and metastatic ability in breast cancer. Shinde A, et al. Free Radic Biol Med, 2024 Feb 1. PMID 38104742
    5. LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells. Sánchez E, et al. Biochim Biophys Acta, 2013 Mar. PMID 23168492, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TNF-alpha induced NF-kappaB mediated LYRM7 expression modulates the tumor growth and metastatic ability in breast cancer.
      Title: TNF-α induced NF-κB mediated LYRM7 expression modulates the tumor growth and metastatic ability in breast cancer.
    2. The authors identified homozygosity for a splice site destroying 4 base pair deletion in LYRM7 in a child with recurrent lactic acidotic crises and distinct early-onset leukencephalopathy.
      Title: LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.
    3. In multifocal cavitating leukoencephalopathy patients, LYRm7 mutations were identified associated with distinct MRI appearances.
      Title: LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
    4. LYRM7/MZM1L is a novel disease gene, causing cIII-defective, early onset, severe mitochondrial encephalopathy.
      Title: A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mitochondrial complex III deficiency nuclear type 8
    MedGen: C4014440 OMIM: 615838 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20796, MGC24679

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein folding chaperone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein folding chaperone TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular respiration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex III assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial respiratory chain complex III assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex III assembly TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein folding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    complex III assembly factor LYRM7
    Names
    LYR motif-containing protein 7
    Lyrm7 homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034163.1 RefSeqGene

      Range
      5031..39515
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001293735.2 → NP_001280664.1  complex III assembly factor LYRM7 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC005179, BG714193, DA996312
      Consensus CDS
      CCDS78057.1
      UniProtKB/TrEMBL
      D6RBV5
      Related
      ENSP00000423991.1, ENST00000507584.1
      Conserved Domains (1) summary
      cl05087
      Location:6 → 63
      Complex1_LYR; Complex 1 protein (LYR family)

    2. NM_181705.4 → NP_859056.2  complex III assembly factor LYRM7 isoform 1

      See identical proteins and their annotated locations for NP_859056.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC005179, AK000803
      Consensus CDS
      CCDS4148.1
      UniProtKB/Swiss-Prot
      A8MPQ9, Q5U5X0, Q86Y68
      Related
      ENSP00000368688.4, ENST00000379380.9
      Conserved Domains (1) summary
      cd20267
      Location:7 → 77
      Complex1_LYR_LYRM7; LYR (leucine-tyrosine-arginine) motif found in LYR motif-containing protein 7 (LYRM7) and similar proteins

    RNA

    1. NR_121658.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC005179, BI667583

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      131170944..131205428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      131689921..131724424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5U5X0.1 GenPept UniProtKB/Swiss-Prot:Q5U5X0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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