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Aliases for RMND1 Gene

Aliases for RMND1 Gene

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

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 lactic acidosis.

UniProtKB/Swiss-Prot 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RMND1 Gene

Genomics for RMND1 Gene

Regulatory Elements for RMND1 Gene

Genomic Location for RMND1 Gene

Chromosome:
6
Start:
151,404,761 bp from pter
End:
151,452,181 bp from pter
Size:
47,421 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

Proteomics data for RMND1 Gene at MOPED

Post-translational modifications for RMND1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RMND1 Gene

No data available for DME Specific Peptides for RMND1 Gene

Domains & Families for RMND1 Gene

Protein Domains for RMND1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RMND1 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for RMND1 Gene

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).
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for RMND1 Gene COMPARTMENTS Subcellular localization image for RMND1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for RMND1 Gene

Pathways & Interactions for RMND1 Gene

SuperPathways for RMND1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RMND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
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

Unigene Clusters for RMND1 Gene

Required for meiotic nuclear division 1 homolog (S. cerevisiae):
Representative Sequences:

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
ECgene alternative splicing isoforms for
RMND1

Expression for RMND1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for RMND1 Gene



SOURCE GeneReport for Unigene cluster for RMND1 Gene Hs.486835

genes like me logo Genes that share expression patterns with RMND1: view

Protein tissue co-expression partners for RMND1 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia RMND1 35
  • 87.65 (n)
  • 86.61 (a)
RMND1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RMND1 35
  • 88.27 (n)
  • 87.08 (a)
RMND1 36
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rmnd1 35
  • 83.07 (n)
  • 82.18 (a)
Rmnd1 16
Rmnd1 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RMND1 35
  • 99.55 (n)
  • 99.33 (a)
RMND1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rmnd1 35
  • 81.37 (n)
  • 80.18 (a)
oppossum
(Monodelphis domestica)
Mammalia RMND1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RMND1 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves RMND1 35
  • 68.24 (n)
  • 63.15 (a)
RMND1 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RMND1 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rmnd1 35
  • 69.24 (n)
  • 71.14 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.17498 35
rmnd1 35
  • 63.52 (n)
  • 60.2 (a)
rmnd1 36
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003903 35
  • 50.81 (n)
  • 47.19 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11679 35
  • 52.33 (n)
  • 43.65 (a)
CG11679 36
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZK1010.2 35
  • 43.42 (n)
  • 31.91 (a)
ZK1010.2 36
  • 27 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL122C 35
  • 44.15 (n)
  • 32.08 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C11165g 35
  • 43.62 (n)
  • 31.51 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YDR282C 35
  • 44.52 (n)
  • 26.91 (a)
-- 36
  • 22 (a)
OneToOne
MRX10 38
bread mold
(Neurospora crassa)
Ascomycetes NCU02271 35
  • 45.89 (n)
  • 37.67 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToOne
Species with no ortholog for RMND1:
  • 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 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)

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 from dbSNP and Humsavar for RMND1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs3734800 - 151,445,417(+) TTTCC(A/G)TTGAT intron-variant, nc-transcript-variant, reference, missense
rs11550103 - 151,445,687(-) ATGCA(G/T)CACAC intron-variant, nc-transcript-variant, reference, missense
rs6934360 - 151,445,672(+) TTTGA(C/T)GTATT intron-variant, nc-transcript-variant, reference, missense
VAR_069036 Combined oxidative phosphorylation deficiency 11 (COXPD11)
rs1017869 -- 151,431,634(+) tgtgg(C/G)tattg intron-variant

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)

Relevant External Links for RMND1 Gene

HapMap Linkage Disequilibrium report
RMND1
Human Gene Mutation Database (HGMD)
RMND1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RMND1 Gene

Disorders for RMND1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RMND1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 11
  • combined oxidative phosphorylation defect type 11
lactic acidosis
  • acidosis lactic
- 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.

Relevant External Links for RMND1

Genetic Association Database (GAD)
RMND1
Human Genome Epidemiology (HuGE) Navigator
RMND1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RMND1
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 E.A. (Am. J. Hum. Genet. 2012) 2 3 4 67
  2. RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. (PMID: 25604853) Janer A. … Shoubridge E.A. (Eur. J. Hum. Genet. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. C6ORF97-ESR1 breast cancer susceptibility locus: influence on progression and survival in breast cancer patients. (PMID: 25370037) Yamamoto-Ibusuki M. … Iwase H. (Eur. J. Hum. Genet. 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for RMND1 Gene

Sources for RMND1 Gene

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