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    NUP155 nucleoporin 155 [ Homo sapiens (human) ]

    Gene ID: 9631, updated on 3-Nov-2024

    Summary

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    Official Symbol
    NUP155provided by HGNC
    Official Full Name
    nucleoporin 155provided by HGNC
    Primary source
    HGNC:HGNC:8063
    See related
    Ensembl:ENSG00000113569 MIM:606694; AllianceGenome:HGNC:8063
    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
    N155; ATFB15
    Summary
    Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]
    Expression
    Broad expression in testis (RPKM 44.4), bone marrow (RPKM 5.5) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NUP155 in Genome Data Viewer
    Location:
    5p13.2
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (37288137..37371106, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (37537942..37620915, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (37288239..37371208, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ciliogenesis and planar polarity effector complex subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15979 Neighboring gene MPRA-validated peak5228 silencer Neighboring gene CPLANE1 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 37, pseudogene Neighboring gene MPRA-validated peak5230 silencer Neighboring gene RNA, U7 small nuclear 75 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:37432735-37433237 Neighboring gene WD repeat domain 70 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22488 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:37506116-37507315 Neighboring gene MPRA-validated peak5231 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:37533396-37534595 Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 4193 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:37562531-37563238 Neighboring gene MPRA-validated peak5232 silencer Neighboring gene RNA, U6 small nuclear 1190, pseudogene

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. lamin A/C mutation p.Arg399Cys weakens the interaction between nuclear lamina (lamin A/C) and the nuclear pore complex (NUP155), leading to the development of atrial fibrillation.
      Title: Lamin A mutation impairs interaction with nucleoporin NUP155 and disrupts nucleocytoplasmic transport in atrial fibrillation.
    2. Study revealed that NUP155 controls mRNA translation CDKN1A, a key mediator of the p53 response.
      Title: Nucleoporin Nup155 is part of the p53 network in liver cancer.
    3. The Nup155-mediated localization was required for HDAC4's effect on gene expression.
      Title: Modulation of chromatin position and gene expression by HDAC4 interaction with nucleoporins.
    4. The Nup155 depletion massively alters nuclear envelope structure, causing a dramatic decrease in Nuclear pore complexes numbers and the improper targeting of membrane proteins to the inner nuclear membrane.
      Title: Pom121 links two essential subcomplexes of the nuclear pore complex core to the membrane.
    5. These human and mouse studies indicate that loss of NUP155 function causes atrial fibrillation by altering mRNA and protein transport and link the nuclear pore complex to cardiovascular disease.
      Title: Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Atrial fibrillation, familial, 15
    MedGen: C4014269 OMIM: 615770 GeneReviews: Not available
    		Compare labs

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of nucleoporin 155kDa (NUP155) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed
    Knockdown of nucleoporin 155kDa (NUP155) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify 155kDa nucleoporin (NUP155), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify 155kDa nucleoporin (NUP155), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify 155kDa nucleoporin (NUP155), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify 155kDa nucleoporin (NUP155), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    capsid gag HIV-1 N74D CA mutant requires NUP155 for the nuclear import of HIV-1 PICs PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0791

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of nuclear pore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in atrial cardiac muscle cell action potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA export from nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in miRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within nuclear envelope organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nucleocytoplasmic transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to nuclear inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear envelope TAS
    Traceable Author Statement
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    part_of nuclear pore NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of nuclear pore inner ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    nuclear pore complex protein Nup155
    Names
    155 kDa nucleoporin
    nucleoporin 155kD
    nucleoporin 155kDa

    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_034131.2 RefSeqGene

      Range
      5000..87969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278312.2 → NP_001265241.1  nuclear pore complex protein Nup155 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. It encodes isoform 3 which lacks an internal segment and is shorter, compared to isoform 1.
      Source sequence(s)
      AC025449, AI037962, AK297143, AK315028, BM478072, BQ435836, DC401967
      Consensus CDS
      CCDS64142.1
      UniProtKB/TrEMBL
      B4DLT2, E9PF10
      Related
      ENSP00000422019.1, ENST00000513532.1
      Conserved Domains (2) summary
      pfam03177
      Location:944 → 1149
      Nucleoporin_C; Non-repetitive/WGA-negative nucleoporin C-terminal
      pfam08801
      Location:77 → 507
      Nucleoporin_N; Nup133 N terminal like

    2. NM_004298.4 → NP_004289.1  nuclear pore complex protein Nup155 isoform 2

      See identical proteins and their annotated locations for NP_004289.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' terminal exon and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AB018334, AC025449, AI037962, BC039257, BM478072, BQ435836, DA249538, DC401967
      Consensus CDS
      CCDS43310.1
      UniProtKB/TrEMBL
      B4DLT2
      Related
      ENSP00000371265.2, ENST00000381843.6
      Conserved Domains (2) summary
      pfam03177
      Location:773 → 1154
      Nucleoporin_C; Non-repetitive/WGA-negative nucleoporin C-terminal
      pfam08801
      Location:18 → 448
      Nucleoporin_N; Nup133 N terminal like

    3. NM_153485.3 → NP_705618.1  nuclear pore complex protein Nup155 isoform 1

      See identical proteins and their annotated locations for NP_705618.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC025449, AI037962, BC039257, BM478072, BQ435836, DC401967
      Consensus CDS
      CCDS3921.1
      UniProtKB/Swiss-Prot
      O75694, Q9UBE9, Q9UFL5
      UniProtKB/TrEMBL
      B4DLT2
      Related
      ENSP00000231498.3, ENST00000231498.8
      Conserved Domains (2) summary
      COG5308
      Location:89 → 1311
      NUP170; Nuclear pore complex subunit [Intracellular trafficking and secretion]
      pfam08801
      Location:77 → 507
      Nucleoporin_N; Nup133 N terminal like

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      37288137..37371106 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417934.1 → XP_047273890.1  nuclear pore complex protein Nup155 isoform X1

    2. XM_011514165.4 → XP_011512467.1  nuclear pore complex protein Nup155 isoform X2

      Conserved Domains (1) summary
      pfam08801
      Location:77 → 507
      Nucleoporin_N; Nup133 N terminal like

    3. XM_047417935.1 → XP_047273891.1  nuclear pore complex protein Nup155 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      37537942..37620915 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353895.1 → XP_054209870.1  nuclear pore complex protein Nup155 isoform X1

    2. XM_054353896.1 → XP_054209871.1  nuclear pore complex protein Nup155 isoform X2

    3. XM_054353897.1 → XP_054209872.1  nuclear pore complex protein Nup155 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75694.1 GenPept UniProtKB/Swiss-Prot:O75694

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