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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

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
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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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