U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    NUP35 nucleoporin 35 [ Homo sapiens (human) ]

    Gene ID: 129401, updated on 10-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    NUP35provided by HGNC
    Official Full Name
    nucleoporin 35provided by HGNC
    Primary source
    HGNC:HGNC:29797
    See related
    Ensembl:ENSG00000163002 MIM:608140; AllianceGenome:HGNC:29797
    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
    MP44; NP44; MP-44; NUP53
    Summary
    This gene encodes a member of the nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear pore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10. [provided by RefSeq, Dec 2013]
    Expression
    Ubiquitous expression in testis (RPKM 6.9), adrenal (RPKM 3.5) 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 NUP35 in Genome Data Viewer
    Location:
    2q32.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (183117514..183161680)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (183606527..183650714)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (183982242..184026408)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:183935853-183936421 Neighboring gene keratin 8 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16838 Neighboring gene dual specificity phosphatase 19 Neighboring gene uncharacterized LOC124907917 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:183989221-183989989 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:184037030-184037616 Neighboring gene uncharacterized LOC124906103 Neighboring gene LIN28A pseudogene 1

    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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Nup53 is required for nuclear envelope and nuclear pore complex assembly. Hawryluk-Gara LA, et al. Mol Biol Cell, 2008 Apr. PMID 18256286, Free PMC Article
    2. System analysis shows distinct mechanisms and common principles of nuclear envelope protein dynamics. Zuleger N, et al. J Cell Biol, 2011 Apr 4. PMID 21444689, Free PMC Article
    3. Dimerization and direct membrane interaction of Nup53 contribute to nuclear pore complex assembly. Vollmer B, et al. EMBO J, 2012 Oct 17. PMID 22960634, Free PMC Article
    4. Vertebrate Nup53 interacts with the nuclear lamina and is required for the assembly of a Nup93-containing complex. Hawryluk-Gara LA, et al. Mol Biol Cell, 2005 May. PMID 15703211, Free PMC Article
    5. The conserved transmembrane nucleoporin NDC1 is required for nuclear pore complex assembly in vertebrate cells. Mansfeld J, et al. Mol Cell, 2006 Apr 7. PMID 16600873

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.
    2. defined regions of Nup53 that bind to neighboring nucleoporins as well as those domains that target Nup53 to the nuclear pore complex.
      Title: Nup53 is required for nuclear envelope and nuclear pore complex assembly.
    Submit: New GeneRIF Correction

    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)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 NLS-bearing protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nuclear pore organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nucleocytoplasmic transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    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 central transport channel IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of nuclear pore nuclear basket IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    nucleoporin NUP35
    Names
    mitotic phosphoprotein 44
    nuclear pore complex protein Nup53
    nucleoporin 35kDa
    nucleoporin NUP53

    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_001287584.2 → NP_001274513.1  nucleoporin NUP35 isoform b

      See identical proteins and their annotated locations for NP_001274513.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC064871, AK302350, BC035597
      Consensus CDS
      CCDS74614.1
      UniProtKB/TrEMBL
      A8K3Z5
      Related
      ENSP00000387305.1, ENST00000409798.5
      Conserved Domains (1) summary
      cd12722
      Location:155 → 228
      RRM_Nup53; RNA recognition motif in nucleoporin Nup53

    2. NM_001287585.2 → NP_001274514.1  nucleoporin NUP35 isoform c

      See identical proteins and their annotated locations for NP_001274514.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AK298199, BC061698, BI818393, CX787176, FN117342
      UniProtKB/Swiss-Prot
      Q8NFH5
      Conserved Domains (1) summary
      cd12722
      Location:54 → 127
      RRM_Nup53; RNA recognition motif (RRM) found in nucleoporin Nup53

    3. NM_138285.5 → NP_612142.2  nucleoporin NUP35 isoform a

      See identical proteins and their annotated locations for NP_612142.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BC061698, FN117342
      Consensus CDS
      CCDS2290.1
      UniProtKB/Swiss-Prot
      B4DP57, B4DYB4, Q4ZFZ9, Q53S95, Q8NFH5, Q8TDJ1
      UniProtKB/TrEMBL
      A8K3Z5
      Related
      ENSP00000295119.4, ENST00000295119.9
      Conserved Domains (1) summary
      cd12722
      Location:172 → 245
      RRM_Nup53; RNA recognition motif (RRM) found in nucleoporin Nup53

    RNA

    1. NR_109856.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK289601, BC035597

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      183117514..183161680
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510577.3 → XP_011508879.1  nucleoporin NUP35 isoform X2

      See identical proteins and their annotated locations for XP_011508879.1

      UniProtKB/TrEMBL
      A8K3Z5
      Conserved Domains (1) summary
      cd12722
      Location:155 → 228
      RRM_Nup53; RNA recognition motif in nucleoporin Nup53

    2. XM_011510576.4 → XP_011508878.1  nucleoporin NUP35 isoform X2

      See identical proteins and their annotated locations for XP_011508878.1

      UniProtKB/TrEMBL
      A8K3Z5
      Conserved Domains (1) summary
      cd12722
      Location:155 → 228
      RRM_Nup53; RNA recognition motif in nucleoporin Nup53

    3. XM_047443270.1 → XP_047299226.1  nucleoporin NUP35 isoform X2

      UniProtKB/TrEMBL
      A8K3Z5

    4. XM_006712254.4 → XP_006712317.1  nucleoporin NUP35 isoform X2

      See identical proteins and their annotated locations for XP_006712317.1

      UniProtKB/TrEMBL
      A8K3Z5
      Conserved Domains (1) summary
      cd12722
      Location:155 → 228
      RRM_Nup53; RNA recognition motif in nucleoporin Nup53

    5. XM_017003308.1 → XP_016858797.1  nucleoporin NUP35 isoform X1

      UniProtKB/TrEMBL
      A8K3Z5
      Conserved Domains (1) summary
      cd12722
      Location:175 → 248
      RRM_Nup53; RNA recognition motif in nucleoporin Nup53

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      183606527..183650714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340472.1 → XP_054196447.1  nucleoporin NUP35 isoform X2

      UniProtKB/TrEMBL
      A8K3Z5

    2. XM_054340471.1 → XP_054196446.1  nucleoporin NUP35 isoform X1

      UniProtKB/TrEMBL
      A8K3Z5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001008544.1: Suppressed sequence

      Description
      NM_001008544.1: 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
    Q8NFH5.1 GenPept UniProtKB/Swiss-Prot:Q8NFH5

    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