U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

NUP43 nucleoporin 43 [ Homo sapiens (human) ]

Gene ID: 348995, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
NUP43provided by HGNC
Official Full Name
nucleoporin 43provided by HGNC
Primary source
HGNC:HGNC:21182
See related
Ensembl:ENSG00000120253 MIM:608141; AllianceGenome:HGNC:21182
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p42; bA350J20.1
Summary
Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in lymph node (RPKM 6.0), appendix (RPKM 5.2) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See NUP43 in Genome Data Viewer
Location:
6q25.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (149724315..149749358, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (150924084..150946307, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (150045451..150067665, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene katanin catalytic subunit A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25266 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17664 Neighboring gene large tumor suppressor kinase 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:150022675-150023256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17665 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:150045663-150045865 Neighboring gene uncharacterized LOC645967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25267 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:150069877-150070842 Neighboring gene Sharpr-MPRA regulatory region 3985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:150071808-150072310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:150072311-150072813 Neighboring gene protein-L-isoaspartate (D-aspartate) O-methyltransferase Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:150106480-150106982 Neighboring gene uncharacterized LOC107986660 Neighboring gene BTB domain containing 10 pseudogene 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. High NUP43 expression might independently predict poor overall survival in luminal A and in HER2+ breast cancer. Tian C, et al. Future Oncol, 2018 Jun. PMID 29402145
  2. Crystal structure of human nuclear pore complex component NUP43. Xu C, et al. FEBS Lett, 2015 Oct 24. PMID 26391640
  3. Proteomic analysis of the mammalian nuclear pore complex. Cronshaw JM, et al. J Cell Biol, 2002 Sep 2. PMID 12196509, Free PMC Article
  4. The discovery of a Werner Helicase Interacting Protein (WHIP) association with the nuclear pore complex. Kaur S, et al. Cell Cycle, 2010 Aug 1. PMID 20676042
  5. Centrin 2 localizes to the vertebrate nuclear pore and plays a role in mRNA and protein export. Resendes KK, et al. Mol Cell Biol, 2008 Mar. PMID 18172010, Free PMC Article

See all (75) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ13287

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 cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in chromosome segregation IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA transport IEA
Inferred from Electronic Annotation
more info
  
involved_in nucleocytoplasmic transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
colocalizes_with kinetochore IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear envelope TAS
Traceable Author Statement
more info
  
part_of nuclear pore NAS
Non-traceable Author Statement
more info
 PubMed 
part_of nuclear pore outer ring IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of nuclear pore outer ring IDA
Inferred from Direct Assay
more info
 PubMed 
part_of nuclear pore outer ring NAS
Non-traceable Author Statement
more info
 PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

Go to the top of the page Help
Preferred Names
nucleoporin Nup43
Names
nucleoporin 43kDa
nup107-160 subcomplex subunit Nup43

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

mRNA and Protein(s)

  1. NM_198887.3 → NP_942590.1  nucleoporin Nup43

    See identical proteins and their annotated locations for NP_942590.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the supproted protein.
    Source sequence(s)
    AF514997, AK074311, BC046637, BC047539, BG527619, DC324759
    Consensus CDS
    CCDS5218.1
    UniProtKB/Swiss-Prot
    B4E2F0, Q8NFH3, Q9H8S0
    UniProtKB/TrEMBL
    B3KTT0
    Related
    ENSP00000342262.2, ENST00000340413.7
    Conserved Domains (2) summary
    sd00039
    Location:78 → 133
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:73 → 294
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RNA

  1. NR_104456.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks a segment in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF514997, AK074311, AK095994, BC046637, DC324759

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
    149724315..149749358 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418728.1 → XP_047274684.1  nucleoporin Nup43 isoform X3

    UniProtKB/Swiss-Prot
    B4E2F0, Q8NFH3, Q9H8S0

  2. XM_005266960.6 → XP_005267017.1  nucleoporin Nup43 isoform X2

    See identical proteins and their annotated locations for XP_005267017.1

    UniProtKB/TrEMBL
    B3KTT0
    Conserved Domains (3) summary
    COG2319
    Location:72 → 309
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:78 → 133
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:73 → 309
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  3. XM_011535799.4 → XP_011534101.1  nucleoporin Nup43 isoform X4

    UniProtKB/TrEMBL
    B3KTT0
    Conserved Domains (3) summary
    COG2319
    Location:72 → 302
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:78 → 133
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:73 → 294
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  4. XM_005266962.5 → XP_005267019.1  nucleoporin Nup43 isoform X5

    See identical proteins and their annotated locations for XP_005267019.1

    UniProtKB/TrEMBL
    B3KTT0
    Conserved Domains (3) summary
    COG2319
    Location:72 → 307
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:78 → 133
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:73 → 294
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  5. XM_011535798.4 → XP_011534100.1  nucleoporin Nup43 isoform X1

    UniProtKB/TrEMBL
    B3KTT0
    Conserved Domains (3) summary
    COG2319
    Location:72 → 302
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:78 → 133
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:73 → 294
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    150924084..150946307 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355343.1 → XP_054211318.1  nucleoporin Nup43 isoform X2

  2. XM_054355344.1 → XP_054211319.1  nucleoporin Nup43 isoform X4

  3. XM_054355345.1 → XP_054211320.1  nucleoporin Nup43 isoform X5

  4. XM_054355342.1 → XP_054211317.1  nucleoporin Nup43 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_024647.4: Suppressed sequence

    Description
    NM_024647.4: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NFH3.1 GenPept UniProtKB/Swiss-Prot:Q8NFH3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous