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NUP35 nucleoporin 35 [ Homo sapiens (human) ]

Gene ID: 129401, updated on 3-Apr-2024

Summary

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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
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Genomic context

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See NUP35 in Genome Data Viewer
Location:
2q32.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (183117514..183161680)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (183606527..183650714)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. 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
  2. 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
  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. 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
  5. 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

See all (68) 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

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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

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

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

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

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Preferred Names
nucleoporin NUP35
Names
mitotic phosphoprotein 44
nuclear pore complex protein Nup53
nucleoporin 35kDa
nucleoporin NUP53

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_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_2023_10

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

  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

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

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

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