U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RMND1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation defect type 11
    MedGen: C5190991 OMIM: 614922 GeneReviews: Not available
    not available

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    required for meiotic nuclear division protein 1 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001271937.2NP_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:56233
      DUF155; Uncharacterized ACR, YagE family COG1723
    2. NM_017909.4NP_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:226403
      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_047418959.1XP_047274915.1  required for meiotic nuclear division protein 1 homolog isoform X1

      UniProtKB/Swiss-Prot
      A8K8H4, Q0VDG6, Q5SZ48, Q5SZ83, Q6NSC5, Q96EN7, Q9NWS8
    2. XM_047418961.1XP_047274917.1  required for meiotic nuclear division protein 1 homolog isoform X3

    3. XM_047418960.1XP_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