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

Gene ID: 55005, updated on 23-Nov-2021

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
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

See RMND1 in Genome Data Viewer
Location:
6q25.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (151404548..151452169, complement)
105.20201022 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 RN7SK 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

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
A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
GeneReviews: Not available
Combined oxidative phosphorylation deficiency 11
MedGen: C3554067 OMIM: 614922 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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)

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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_001271937.2NP_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/Swiss-Prot
    Q9NWS8
    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
    Q9NWS8
    Related
    ENSP00000412708.2, ENST00000444024.3
    Conserved Domains (1) summary
    pfam02582
    Location:226403
    DUF155; uncharacterized ACR, YagE family COG1723

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    151404548..151452169 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267040.4XP_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
    Conserved Domains (1) summary
    pfam02582
    Location:15192
    DUF155; Uncharacterized ACR, YagE family COG1723
  2. XM_017010988.2XP_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_001743503.2 RNA Sequence

  2. XR_002956288.1 RNA Sequence

    Related
    ENST00000644711.1
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