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NUP43 nucleoporin 43 [ Homo sapiens (human) ]

Gene ID: 348995, updated on 26-Nov-2021

Summary

Official Symbol
NUP43provided by HGNC
Official Full Name
nucleoporin 43provided by HGNC
Primary source
HGNC:HGNC:21182
See related
Ensembl:ENSG00000120253 MIM:608141
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
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Genomic context

See NUP43 in Genome Data Viewer
Location:
6q25.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (149724315..149746529, complement)
105.20201022 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 large tumor suppressor kinase 1 Neighboring gene uncharacterized LOC105378050 Neighboring gene uncharacterized LOC645967 Neighboring gene protein-L-isoaspartate (D-aspartate) O-methyltransferase Neighboring gene uncharacterized LOC107986660 Neighboring gene BTB domain containing 10 pseudogene 2

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 cycle IEA
Inferred from Electronic Annotation
more info
 
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 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 outer ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

Preferred Names
nucleoporin Nup43
Names
nucleoporin 43kDa
nup107-160 subcomplex subunit Nup43

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.

mRNA and Protein(s)

  1. NM_198887.3NP_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
    Q8NFH3
    UniProtKB/TrEMBL
    Q8TEA6
    Related
    ENSP00000342262.2, ENST00000340413.7
    Conserved Domains (2) summary
    sd00039
    Location:78133
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:73294
    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: 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
    149724315..149746529 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266961.4XP_005267018.1  nucleoporin Nup43 isoform X2

    See identical proteins and their annotated locations for XP_005267018.1

    Conserved Domains (3) summary
    COG2319
    Location:72309
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:78133
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:73309
    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 ...
  2. XM_005266960.5XP_005267017.1  nucleoporin Nup43 isoform X2

    See identical proteins and their annotated locations for XP_005267017.1

    Conserved Domains (3) summary
    COG2319
    Location:72309
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:78133
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:73309
    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_011535799.3XP_011534101.1  nucleoporin Nup43 isoform X3

    Conserved Domains (3) summary
    COG2319
    Location:72302
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:78133
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:73294
    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_005266962.4XP_005267019.1  nucleoporin Nup43 isoform X4

    See identical proteins and their annotated locations for XP_005267019.1

    Conserved Domains (3) summary
    COG2319
    Location:72307
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:78133
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:73294
    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_011535798.3XP_011534100.1  nucleoporin Nup43 isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:72302
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:78133
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:73294
    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. XR_001743393.2 RNA Sequence

  2. XR_942420.3 RNA Sequence

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.
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