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

Summary

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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 more info	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

NG_047147.1 RefSeqGene

Range

5050..36046

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

161221102..161253532

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

XR_007095682.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

163995873..164028302

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

D3DNM7, Q96D46, Q9Y2Z6
XM_054346716.1 → XP_054202691.1 60S ribosomal export protein NMD3 isoform X1

UniProtKB/Swiss-Prot

D3DNM7, Q96D46, Q9Y2Z6