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NMD3 NMD3 ribosome export adaptor [ Homo sapiens (human) ]

Gene ID: 51068, updated on 3-Nov-2024

Summary

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Official Symbol
NMD3provided by HGNC
Official Full Name
NMD3 ribosome export adaptorprovided by HGNC
Primary source
HGNC:HGNC:24250
See related
Ensembl:ENSG00000169251 MIM:611021; AllianceGenome:HGNC:24250
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
CGI-07
Summary
Ribosomal 40S and 60S subunits associate in the nucleolus and are exported to the cytoplasm. The protein encoded by this gene is involved in the passage of the 60S subunit through the nuclear pore complex and into the cytoplasm. Several transcript variants exist for this gene, but the full-length natures of only two have been described to date. [provided by RefSeq, Feb 2016]
Expression
Ubiquitous expression in bone marrow (RPKM 18.0), urinary bladder (RPKM 15.3) and 25 other tissues See more
Orthologs
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Genomic context

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See NMD3 in Genome Data Viewer
Location:
3q26.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (161221102..161253532)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (163995873..164028302)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (160939099..160971320)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group) Neighboring gene uncharacterized LOC124909453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14864 Neighboring gene uncharacterized LOC124906300 Neighboring gene uncharacterized LOC105374186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20768 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:160938841-160939342 Neighboring gene SRP14 pseudogene 5 Neighboring gene MPRA-validated peak4894 silencer Neighboring gene MPRA-validated peak4895 silencer Neighboring gene uncharacterized LOC105374187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20769 Neighboring gene uncharacterized LOC112268450

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Association between NMD3 and symptoms of Parkinson's disease in Chinese patients. Wu H, et al. BMC Neurol, 2020 Jan 14. PMID 31937261, Free PMC Article
  2. Determining the Effect of the HNMT, STK39, and NMD3 Polymorphisms on the Incidence of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Multiple System Atrophy in Chinese Populations. Chen Y, et al. J Mol Neurosci, 2018 Apr. PMID 29564728
  3. Biogenesis and nuclear export of ribosomal subunits in higher eukaryotes depend on the CRM1 export pathway. Thomas F, et al. J Cell Sci, 2003 Jun 15. PMID 12724356
  4. CRM1 and its ribosome export adaptor NMD3 localize to the nucleolus and affect rRNA synthesis. Bai B, et al. Nucleus, 2013 Jul-Aug. PMID 23782956, Free PMC Article
  5. Coordinated nuclear export of 60S ribosomal subunits and NMD3 in vertebrates. Trotta CR, et al. EMBO J, 2003 Jun 2. PMID 12773398, Free PMC Article

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The recessive and overdominant model of NMD3 rs34016896 was associated with cognitive impairment in Parkinson's disease patients.
    Title: Association between NMD3 and symptoms of Parkinson's disease in Chinese patients.
  2. The presence of the rs34016896 allele in the NMD3 gene may contribute to the development of synucleinopathies.
    Title: Determining the Effect of the HNMT, STK39, and NMD3 Polymorphisms on the Incidence of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Multiple System Atrophy in Chinese Populations.
  3. The CRM1 and NMD3 have complex functions in pathways that couple rRNA synthetic and processing engines and that the rRNA synthesis rate may be adjusted according to proficiency in rRNA processing and export.
    Title: CRM1 and its ribosome export adaptor NMD3 localize to the nucleolus and affect rRNA synthesis.
  4. contains a CRM-1-dependent leucine-rich nuclear export signal and a complex, dispersed nuclear localization signal (NMD3)
    Title: Coordinated nuclear export of 60S ribosomal subunits and NMD3 in vertebrates.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ21053

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein-macromolecule adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ribosomal large subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ribosomal large subunit binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ribosomal large subunit binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of RNA biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of protein localization to nucleolus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in ribosomal large subunit export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ribosomal large subunit export from nucleus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
60S ribosomal export protein NMD3
Names
NMD3 homolog
hNMD3

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_047147.1 RefSeqGene

    Range
    5050..36046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320227.2 → NP_001307156.1  60S ribosomal export protein NMD3 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC108738, AK225664, DB480542
    Consensus CDS
    CCDS82870.1
    UniProtKB/TrEMBL
    B3KT11, C9JA08
    Related
    ENSP00000417559.1, ENST00000472947.5
    Conserved Domains (3) summary
    COG1499
    Location:9 → 388
    NMD3; NMD protein affecting ribosome stability and mRNA decay [Translation, ribosomal structure and biogenesis]
    pfam04981
    Location:17 → 246
    NMD3; NMD3 family
    cl00266
    Location:379 → 521
    HGTP_anticodon; HGTP anticodon binding domain, as found at the C-terminus of histidyl, glycyl, threonyl and prolyl tRNA synthetases, which are classified as a group of class II aminoacyl-tRNA synthetases (aaRS). In aaRSs, the anticodon binding domain is responsible for ...

  2. NM_015938.5 → NP_057022.2  60S ribosomal export protein NMD3 isoform 2

    See identical proteins and their annotated locations for NP_057022.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC108738, BC013317
    Consensus CDS
    CCDS3194.1
    UniProtKB/Swiss-Prot
    D3DNM7, Q96D46, Q9Y2Z6
    UniProtKB/TrEMBL
    B3KT11
    Related
    ENSP00000307525.2, ENST00000351193.7
    Conserved Domains (1) summary
    pfam04981
    Location:17 → 246
    NMD3; NMD3 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    161221102..161253532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247511.3 → XP_005247568.1  60S ribosomal export protein NMD3 isoform X1

    See identical proteins and their annotated locations for XP_005247568.1

    UniProtKB/Swiss-Prot
    D3DNM7, Q96D46, Q9Y2Z6
    UniProtKB/TrEMBL
    B3KT11
    Conserved Domains (1) summary
    pfam04981
    Location:17 → 246
    NMD3; NMD3 family

  2. XM_005247512.2 → XP_005247569.1  60S ribosomal export protein NMD3 isoform X1

    See identical proteins and their annotated locations for XP_005247569.1

    UniProtKB/Swiss-Prot
    D3DNM7, Q96D46, Q9Y2Z6
    UniProtKB/TrEMBL
    B3KT11
    Related
    ENSP00000419004.1, ENST00000460469.1
    Conserved Domains (1) summary
    pfam04981
    Location:17 → 246
    NMD3; NMD3 family

RNA

  1. XR_007095682.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    163995873..164028302
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346715.1 → XP_054202690.1  60S ribosomal export protein NMD3 isoform X1

    UniProtKB/Swiss-Prot
    D3DNM7, Q96D46, Q9Y2Z6

  2. XM_054346716.1 → XP_054202691.1  60S ribosomal export protein NMD3 isoform X1

    UniProtKB/Swiss-Prot
    D3DNM7, Q96D46, Q9Y2Z6

RNA

  1. XR_008486719.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96D46.1 GenPept UniProtKB/Swiss-Prot:Q96D46

Gene LinkOut

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