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 be... See more...

Aliases for RMND1 Gene

Aliases for RMND1 Gene

  • Required For Meiotic Nuclear Division 1 Homolog 2 3 5
  • Required For Meiotic Nuclear Division Protein 1 Homolog 3 4
  • BA351K16.3 2 3
  • C6orf96 3 4
  • RMD1 2 3
  • Required For Meiotic Nuclear Division 1 Homolog (S. Cerevisiae) 2
  • Chromosome 6 Open Reading Frame 96 2
  • BA351K16 3
  • FLJ20627 2
  • COXPD11 3
  • RMND1 5

External Ids for RMND1 Gene

Previous HGNC Symbols for RMND1 Gene

  • C6orf96

Previous GeneCards Identifiers for RMND1 Gene

  • GC06M151767
  • GC06M149288
  • GC06M151725

Summaries for RMND1 Gene

Entrez Gene Summary for RMND1 Gene

  • 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]

GeneCards Summary for RMND1 Gene

RMND1 (Required For Meiotic Nuclear Division 1 Homolog) is a Protein Coding gene. Diseases associated with RMND1 include Combined Oxidative Phosphorylation Deficiency 11 and Mitochondrial Metabolism Disease.

UniProtKB/Swiss-Prot Summary for RMND1 Gene

  • Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome (PubMed:23022098, PubMed:25604853).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RMND1 Gene

Genomics for RMND1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RMND1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J151450 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 616.5 +0.1 80 5 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 REST TFE3 LEF1 SOX13 RMND1 ARMT1 piR-41399-421 piR-53562-351 piR-56759-503 piR-61028-511 HSPA8P15 ZBTB2 lnc-ARMT1-2 piR-36393-462
GH06J151492 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 23.2 -42.0 -41976 2.5 HNRNPL GATAD2A KDM1A ZNF692 TARDBP FOXA1 ZIC2 ZSCAN4 RBFOX2 IRF2 CCDC170 RMND1 HSPA8P15 ZBTB2 ARMT1 ESR1 piR-46847-234
GH06J151386 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.6 +61.8 61777 6.9 BRCA1 ARHGAP35 CREB1 GATAD2A HNRNPL PRDM10 REST ZNF629 TFE3 RFX1 ZBTB2 lnc-AKAP12-1 lnc-AKAP12-3 HSPA8P15 RMND1 CCDC170 AKAP12
GH06J151436 Enhancer 0.9 Ensembl ENCODE 20 +14.6 14581 3.2 GATAD2A TFE3 FOXA1 RXRB CEBPA SOX13 CTBP1 FOXA2 JUND CUX1 RMND1 lnc-ZBTB2-4 HSPA8P15 ZBTB2
GH06J151413 Enhancer 0.7 Ensembl ENCODE 27 +38.7 38681 2.2 LEF1 RBAK CBX3 TCF7 TRIM28 POLR2A MAFK HSPA8P15 RMND1 ZBTB2 ARMT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RMND1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RMND1

Top Transcription factor binding sites by QIAGEN in the RMND1 gene promoter:
  • C/EBPalpha
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • HNF-4alpha1
  • HNF-4alpha2
  • POU3F2
  • STAT5A

Genomic Locations for RMND1 Gene

Genomic Locations for RMND1 Gene
chr6:151,404,548-151,452,181
(GRCh38/hg38)
Size:
47,634 bases
Orientation:
Minus strand
chr6:151,725,989-151,773,316
(GRCh37/hg19)
Size:
47,328 bases
Orientation:
Minus strand

Genomic View for RMND1 Gene

Genes around RMND1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RMND1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RMND1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RMND1 Gene

Proteins for RMND1 Gene

  • Protein details for RMND1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWS8-RMND1_HUMAN
    Recommended name:
    Required for meiotic nuclear division protein 1 homolog
    Protein Accession:
    Q9NWS8
    Secondary Accessions:
    • A8K8H4
    • Q0VDG6
    • Q5SZ48
    • Q5SZ83
    • Q6NSC5
    • Q96EN7

    Protein attributes for RMND1 Gene

    Size:
    449 amino acids
    Molecular mass:
    51604 Da
    Quaternary structure:
    • Homooligomer (PubMed:23022098, PubMed:25604853).

    Alternative splice isoforms for RMND1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RMND1 Gene

Post-translational modifications for RMND1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RMND1 Gene

Domains & Families for RMND1 Gene

Gene Families for RMND1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for RMND1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RMND1 Gene

GenScript: Design optimal peptide antigens:
  • Required for meiotic nuclear division protein 1 homolog (RMND1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NWS8

UniProtKB/Swiss-Prot:

RMND1_HUMAN :
  • Belongs to the RMD1/sif2 family.
Family:
  • Belongs to the RMD1/sif2 family.
genes like me logo Genes that share domains with RMND1: view

Function for RMND1 Gene

Molecular function for RMND1 Gene

UniProtKB/Swiss-Prot Function:
Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome (PubMed:23022098, PubMed:25604853).

Phenotypes From GWAS Catalog for RMND1 Gene

Gene Ontology (GO) - Molecular Function for RMND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RMND1: view
genes like me logo Genes that share phenotypes with RMND1: view

Human Phenotype Ontology for RMND1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RMND1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RMND1 Gene

Localization for RMND1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RMND1 Gene

Mitochondrion. Note=May be localized in mitochondrial RNA granules (PubMed:25604853). {ECO:0000269 PubMed:25604853}.

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 RMND1 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RMND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 25604853
genes like me logo Genes that share ontologies with RMND1: view

Pathways & Interactions for RMND1 Gene

PathCards logo

SuperPathways for RMND1 Gene

No Data Available

Interacting Proteins for RMND1 Gene

Gene Ontology (GO) - Biological Process for RMND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0070131 positive regulation of mitochondrial translation IBA,IDA 25604853
genes like me logo Genes that share ontologies with RMND1: view

No data available for Pathways by source and SIGNOR curated interactions for RMND1 Gene

Drugs & Compounds for RMND1 Gene

No Compound Related Data Available

Transcripts for RMND1 Gene

mRNA/cDNA for RMND1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RMND1

Alternative Splicing Database (ASD) splice patterns (SP) for RMND1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: - -
SP2: - - - -
SP3: - - - -
SP4: -
SP5: - -

Relevant External Links for RMND1 Gene

GeneLoc Exon Structure for
RMND1

Expression for RMND1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RMND1 Gene

Protein differential expression in normal tissues from HIPED for RMND1 Gene

This gene is overexpressed in Stomach (26.6) and Islet of Langerhans (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RMND1 Gene



Protein tissue co-expression partners for RMND1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RMND1

SOURCE GeneReport for Unigene cluster for RMND1 Gene:

Hs.486835

Evidence on tissue expression from TISSUES for RMND1 Gene

  • Kidney(4.4)
  • Liver(4.3)
  • Skin(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RMND1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • ear
  • head
  • meninges
  • neck
Abdomen:
  • kidney
  • liver
Pelvis:
  • ureter
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with RMND1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RMND1 Gene

Orthologs for RMND1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RMND1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RMND1 30 31
  • 99.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RMND1 30 31
  • 88.27 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RMND1 30 31
  • 87.65 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rmnd1 30 17 31
  • 83.07 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rmnd1 30
  • 81.37 (n)
Oppossum
(Monodelphis domestica)
Mammalia RMND1 31
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RMND1 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RMND1 30 31
  • 68.24 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RMND1 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rmnd1 30
  • 69.24 (n)
Zebrafish
(Danio rerio)
Actinopterygii rmnd1 30 31
  • 63.52 (n)
OneToOne
Dr.17498 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG11679 30 31
  • 52.33 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003903 30
  • 50.81 (n)
Worm
(Caenorhabditis elegans)
Secernentea ZK1010.2 30 31
  • 43.42 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YDR282C 30
  • 44.52 (n)
-- 31
  • 22 (a)
OneToOne
RMD1 33
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAL122C 30
  • 44.15 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C11165g 30
  • 43.62 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU02271 30
  • 45.89 (n)
Species where no ortholog for RMND1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for RMND1 Gene

ENSEMBL:
Gene Tree for RMND1 (if available)
TreeFam:
Gene Tree for RMND1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RMND1: view image

Paralogs for RMND1 Gene

Pseudogenes.org Pseudogenes for RMND1 Gene

genes like me logo Genes that share paralogs with RMND1: view

No data available for Paralogs for RMND1 Gene

Variants for RMND1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RMND1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
666265 Uncertain Significance: Combined oxidative phosphorylation deficiency 11 151,421,275(-) A/G MISSENSE_VARIANT
666266 Uncertain Significance: Combined oxidative phosphorylation deficiency 11 151,405,751(-) T/A MISSENSE_VARIANT
669561 Benign: not provided 151,429,825(-) C/T INTRON_VARIANT
671570 Benign: not provided 151,427,860(-) T/C INTRON_VARIANT
671673 Benign: not provided 151,417,241(-) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for RMND1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RMND1 Gene

Variant ID Type Subtype PubMed ID
esv3540649 CNV deletion 23714750
esv3576236 CNV gain 25503493
esv3611266 CNV loss 21293372
nsv1016522 CNV gain 25217958
nsv1128280 CNV deletion 24896259

Variation tolerance for RMND1 Gene

Residual Variation Intolerance Score: 81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.58; 78.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RMND1 Gene

Human Gene Mutation Database (HGMD)
RMND1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RMND1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RMND1 Gene

Disorders for RMND1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for RMND1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RMND1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RMND1_HUMAN
  • Combined oxidative phosphorylation deficiency 11 (COXPD11) [MIM:614922]: A severe, multisystemic, autosomal recessive, disorder characterized by deficiencies of multiple mitochondrial respiratory enzymes leading to neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures. {ECO:0000269 PubMed:23022098, ECO:0000269 PubMed:23022099, ECO:0000269 PubMed:25604853, ECO:0000269 PubMed:26238252}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RMND1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RMND1: view

No data available for Genatlas for RMND1 Gene

Publications for RMND1 Gene

  1. An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. (PMID: 23022098) Janer A … Shoubridge EA (American journal of human genetics 2012) 2 3 4
  2. RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. (PMID: 25604853) Janer A … Shoubridge EA (European journal of human genetics : EJHG 2015) 3 4
  3. Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. (PMID: 23022099) Garcia-Diaz B … Quinzii CM (American journal of human genetics 2012) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for RMND1 Gene

Sources for RMND1 Gene