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    RMND1 required for meiotic nuclear division 1 homolog [ Homo sapiens (human) ]

    Gene ID: 55005, updated on 7-Apr-2024

    Summary

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    Official Symbol
    RMND1provided by HGNC
    Official Full Name
    required for meiotic nuclear division 1 homologprovided by HGNC
    Primary source
    HGNC:HGNC:21176
    See related
    Ensembl:ENSG00000155906 MIM:614917; AllianceGenome:HGNC:21176
    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
    RMD1; C6orf96; COXPD11; bA351K16; bA351K16.3
    Summary
    The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
    Expression
    Ubiquitous expression in thyroid (RPKM 10.9), kidney (RPKM 10.5) and 25 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    6q25.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (151404762..151452126, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (152605351..152652768, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (151725897..151773261, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene A-kinase anchoring protein 12 Neighboring gene uncharacterized LOC124901550 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:151675923-151676424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25281 Neighboring gene zinc finger and BTB domain containing 2 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17686 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:151712707-151713579 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17687 Neighboring gene uncharacterized LOC124901433 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17688 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:151776537-151777294 Neighboring gene uncharacterized LOC124901434 Neighboring gene acidic residue methyltransferase 1

    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
    • 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. Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement. Oziębło D, et al. Genes (Basel), 2020 Sep 8. PMID 32911714, Free PMC Article
    2. Evidence that 6q25.1 variant rs6931104 confers susceptibility to chronic myeloid leukemia through RMND1 regulation. Woo YM, et al. PLoS One, 2019. PMID 31237926, Free PMC Article
    3. A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects. Demain LAM, et al. Clin Genet, 2018 Aug. PMID 29671881
    4. Hearing impairment and renal failure associated with RMND1 mutations. Ravn K, et al. Am J Med Genet A, 2016 Jan. PMID 26395190
    5. An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. Janer A, et al. Am J Hum Genet, 2012 Oct 5. PMID 23022098, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease.
      Title: Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease.
    2. Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.
      Title: Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.
    3. The study shows that an association of theRMND1/CCDC170-ESR1 single nucleotide polymorphisms can exist with osteopenia, osteoporosis, or fragility fracture.
      Title: Association of RMND1/CCDC170-ESR1 single nucleotide polymorphisms with hip fracture and osteoporosis in postmenopausal women.
    4. RFX3 plays a role in RMND1 expression.
      Title: Evidence that 6q25.1 variant rs6931104 confers susceptibility to chronic myeloid leukemia through RMND1 regulation.
    5. We suggest that patients with Perrault syndrome are screened for variants in RMND1 along side the known Perrault syndrome genes.Renal phenotypes in women with Perrault syndrome features may indicate the causative variant is in RMND1 but the absence of renal dysfunction should not preclude RMND1 screening
      Title: A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects.
    6. Hearing impairment and renal failure are associated with RMND1 mutations.
      Title: Hearing impairment and renal failure associated with RMND1 mutations.
    7. Expression of ESR1, RMND1 and CCDC170 associated with variants in separate enhancer elements predisposing breast cancer. [meta-analysis]
      Title: Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
    8. The RMND1 mutation caused haploinsufficiency that was rescued by overexpression of the wild-type transcript in mutant fibroblasts; this overexpression increased the levels and activities of mitochondrial respiratory-chain proteins.
      Title: Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
    9. Results demonstrate that the RMND1 complex is necessary for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome.
      Title: An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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
    Combined oxidative phosphorylation defect type 11
    MedGen: C5190991 OMIM: 614922 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20627, MGC88260, MGC117362, MGC149570

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of mitochondrial translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of mitochondrial translation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in translation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    required for meiotic nuclear division protein 1 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_033031.1 RefSeqGene

      Range
      5056..52420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271937.2 → NP_001258866.1  required for meiotic nuclear division protein 1 homolog isoform 2

      See identical proteins and their annotated locations for NP_001258866.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' region and initiates translation from an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      BC106065, BG547724, DA747450, HY331559
      Consensus CDS
      CCDS75539.1
      UniProtKB/TrEMBL
      A0A087WXU0
      Related
      ENSP00000481280.1, ENST00000622845.5
      Conserved Domains (1) summary
      pfam02582
      Location:56 → 233
      DUF155; Uncharacterized ACR, YagE family COG1723

    2. NM_017909.4 → NP_060379.2  required for meiotic nuclear division protein 1 homolog isoform 1

      See identical proteins and their annotated locations for NP_060379.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1), which has been reported to be localized in the mitochondria (PMIDs: 23022098 and 23022099).
      Source sequence(s)
      BC106065, HY331559
      Consensus CDS
      CCDS5232.1
      UniProtKB/Swiss-Prot
      A8K8H4, Q0VDG6, Q5SZ48, Q5SZ83, Q6NSC5, Q96EN7, Q9NWS8
      UniProtKB/TrEMBL
      A0A804HLE1
      Related
      ENSP00000412708.2, ENST00000444024.3
      Conserved Domains (1) summary
      pfam02582
      Location:226 → 403
      DUF155; uncharacterized ACR, YagE family COG1723

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      151404762..151452126 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418959.1 → XP_047274915.1  required for meiotic nuclear division protein 1 homolog isoform X1

      UniProtKB/Swiss-Prot
      A8K8H4, Q0VDG6, Q5SZ48, Q5SZ83, Q6NSC5, Q96EN7, Q9NWS8

    2. XM_047418961.1 → XP_047274917.1  required for meiotic nuclear division protein 1 homolog isoform X3

    3. XM_047418960.1 → XP_047274916.1  required for meiotic nuclear division protein 1 homolog isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y4J4
      Related
      ENSP00000494106.1, ENST00000644711.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      152605351..152652768 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008487362.1 RNA Sequence

    2. XR_008487361.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NWS8.2 GenPept UniProtKB/Swiss-Prot:Q9NWS8

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