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

    Gene ID: 55005, updated on 5-Nov-2017
    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; Vega:OTTHUMG00000015837
    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]
    Orthologs
    Location:
    6q25.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (151404548..151452181, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (151725897..151773316, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene A-kinase anchoring protein 12 Neighboring gene RNA, 7SK small nuclear pseudogene 268 Neighboring gene zinc finger and BTB domain containing 2 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 15 Neighboring gene acidic residue methyltransferase 1 Neighboring gene coiled-coil domain containing 170 Neighboring gene uncharacterized LOC107986528 Neighboring gene RNA, U6 small nuclear 813, pseudogene

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation deficiency 11
    MedGen: C3554067 OMIM: 614922 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20627, MGC88260, MGC117362, MGC149570

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    positive regulation of mitochondrial translation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    translation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    required for meiotic nuclear division protein 1 homolog

    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
      5001..52420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271937.1NP_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/Swiss-Prot
      Q9NWS8
      UniProtKB/TrEMBL
      A0A087WXU0
      Related
      ENSP00000481280.1, ENST00000622845.4
      Conserved Domains (1) summary
      pfam02582
      Location:56233
      DUF155; uncharacterized ACR, YagE family COG1723
    2. NM_017909.3NP_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, DA747450, HY331559
      Consensus CDS
      CCDS5232.1
      UniProtKB/Swiss-Prot
      Q9NWS8
      Related
      ENSP00000356272.4, OTTHUMP00000017429, ENST00000367303.8, OTTHUMT00000042718
      Conserved Domains (1) summary
      pfam02582
      Location:226403
      DUF155; uncharacterized ACR, YagE family COG1723

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      151404548..151452181 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267040.3XP_005267097.1  required for meiotic nuclear division protein 1 homolog isoform X1

      See identical proteins and their annotated locations for XP_005267097.1

      UniProtKB/Swiss-Prot
      Q9NWS8
      Related
      ENSP00000336683.3, OTTHUMP00000017431, ENST00000336451.7, OTTHUMT00000042722
      Conserved Domains (1) summary
      pfam02582
      Location:15192
      DUF155; uncharacterized ACR, YagE family COG1723
    2. XM_017010988.1XP_016866477.1  required for meiotic nuclear division protein 1 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q9NWS8
      Conserved Domains (1) summary
      pfam02582
      Location:15192
      DUF155; uncharacterized ACR, YagE family COG1723

    RNA

    1. XR_001743503.1 RNA Sequence

    2. XR_942497.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      151990047..152037461 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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