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

Gene ID: 55005, updated on 11-Sep-2014
Official Symbol
RMND1provided by HGNC
Official Full Name
required for meiotic nuclear division 1 homolog (S. cerevisiae)provided by HGNC
Primary source
HGNC:HGNC:21176
Locus tag
RP11-351K16.6
See related
Ensembl:ENSG00000155906; HPRD:09858; 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]
See RMND1 in Epigenomics, MapViewer
Location:
6q25.1
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (151404762..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 (PRKA) anchor protein 12 Neighboring gene RNA, Ro-associated Y4 pseudogene 20 Neighboring gene zinc finger and BTB domain containing 2 Neighboring gene heat shock 70kDa protein 8 pseudogene 15 Neighboring gene chromosome 6 open reading frame 211 Neighboring gene coiled-coil domain containing 170

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Combined oxidative phosphorylation deficiency 11
MedGen: CN160490 OMIM: 614922 GeneReviews: Not available
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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

Process Evidence Code Pubs
translation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrion IDA
Inferred from Direct Assay
more info
 
Preferred Names
required for meiotic nuclear division protein 1 homolog
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 

    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 proteins identical to 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
    Related
    ENSP00000481280, ENST00000622845
    Conserved Domains (1) summary
    pfam02582
    Location:55234
    Blast Score: 460
    DUF155; Uncharacterized ACR, YagE family COG1723
  2. NM_017909.3NP_060379.2  required for meiotic nuclear division protein 1 homolog isoform 1

    See proteins identical to 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, OTTHUMP00000017429, ENST00000367303, OTTHUMT00000042718
    Conserved Domains (1) summary
    pfam02582
    Location:225404
    Blast Score: 476
    DUF155; Uncharacterized ACR, YagE family COG1723

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    151404762..151452181
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267040.1XP_005267097.1  

    See proteins identical to XP_005267097.1

    UniProtKB/Swiss-Prot
    Q9NWS8
    Related
    ENSP00000336683, OTTHUMP00000017431, ENST00000336451, OTTHUMT00000042722
    Conserved Domains (1) summary
    pfam02582
    Location:14193
    Blast Score: 452
    DUF155; Uncharacterized ACR, YagE family COG1723

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    149288185..149335348
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

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