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

Gene ID: 90624, updated on 3-Oct-2020

Summary

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
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

Genomic context

See LYRM7 in Genome Data Viewer
Location:
5q23.3-q31.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (131170944..131205428)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (130506641..130541119)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379172 Neighboring gene histidine triad nucleotide binding protein 1 Neighboring gene CDC42 small effector 2 Neighboring gene uncharacterized LOC105379173 Neighboring gene Rap guanine nucleotide exchange factor 6

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20796, MGC24679

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular respiration IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex III assembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001293735.2NP_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:663
    Complex1_LYR; Complex 1 protein (LYR family)
  2. NM_181705.4NP_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
    Q5U5X0
    Related
    ENSP00000368688.4, ENST00000379380.9
    Conserved Domains (1) summary
    cd20267
    Location:777
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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