U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    NUP107 nucleoporin 107 [ Homo sapiens (human) ]

    Gene ID: 57122, updated on 3-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    NUP107provided by HGNC
    Official Full Name
    nucleoporin 107provided by HGNC
    Primary source
    HGNC:HGNC:29914
    See related
    Ensembl:ENSG00000111581 MIM:607617; AllianceGenome:HGNC:29914
    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
    ODG6; NUP84; NPHS11; ODG6; GAMOS7
    Summary
    This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 14.7), lymph node (RPKM 14.2) 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 NUP107 in Genome Data Viewer
    Location:
    12q15
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (68686978..68745809)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (68666525..68725366)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (69080758..69139589)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RAP1B, member of RAS oncogene family Neighboring gene MPRA-validated peak1779 silencer Neighboring gene ATP synthase peripheral stalk subunit d pseudogene 4 Neighboring gene uncharacterized LOC100507250 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:69074200-69074313 Neighboring gene ribosomal protein L7 pseudogene 42 Neighboring gene keratin 8 pseudogene 39 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:69139629-69140319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6645 Neighboring gene solute carrier family 35 member E3 Neighboring gene MAPK activated protein kinase 2 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:69181025-69181579 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:69181580-69182133 Neighboring gene SZRD1 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: 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Single nucleotide variant in Nucleoporin 107 may be predictive of sensitivity to chemotherapy in patients with ovarian cancer. Alanee S, et al. Pharmacogenet Genomics, 2017 Jul. PMID 28562428, Free PMC Article
    2. Depletion of a single nucleoporin, Nup107, prevents the assembly of a subset of nucleoporins into the nuclear pore complex. Boehmer T, et al. Proc Natl Acad Sci U S A, 2003 Feb 4. PMID 12552102, Free PMC Article
    3. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. Rosti RO, et al. J Med Genet, 2017 Jun. PMID 28280135
    4. NUP107 mutations in children with steroid-resistant nephrotic syndrome. Park E, et al. Nephrol Dial Transplant, 2017 Jun 1. PMID 27190346
    5. Dissecting the NUP107 complex: multiple components and even more functions. González-Aguilera C, et al. Nucleus, 2012 Jul 1. PMID 22713280

    See all (156) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.
      Title: Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.
    2. Whole exome sequencing identified a novel and rare missense variant in the NUP107 gene (c.1063C>T, p.R355C) in both sisters with HH.
      Title: Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.
    3. NUP107 was suggested as a candidate in a family with nephrotic syndrome and developmental delay.
      Title: Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
    4. Associations between biallelic NUP107 mutations and age at onset in children with steroid-resistant nephrotic syndrome.
      Title: NUP107 mutations in children with steroid-resistant nephrotic syndrome.
    5. a variant in the 3'-UTR region Nup107 unique to sensitivity to platinum in ovarian cancer, was identified.
      Title: Single nucleotide variant in Nucleoporin 107 may be predictive of sensitivity to chemotherapy in patients with ovarian cancer.
    6. Nup107-160 complex and its partner Elys dynamically colocalize with Nup98 and CRM1 into endogenous GLFG bodies present in specific HeLa sublines.
      Title: Intranuclear dynamics of the Nup107-160 complex.
    7. a recessive missense mutation in nucleoporin-107 (NUP107, c.1339G>A, p.D447N). This mutation segregated with the XX-GD phenotype and was not present in available databases or in 150 healthy ethnically matched controls.
      Title: A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
    8. The central domain of Nup107 interfered with Apaf-1 nuclear translocation upon genotoxic stress, resulting in a marked reduction of Chk-1 activation and cell cycle arrest.
      Title: DNA damage-induced nuclear translocation of Apaf-1 is mediated by nucleoporin Nup107.
    9. Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
      Title: Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
    10. The functions have been ascribed to the NUP107 complex, ranging from Nuclear Pore Complex (NPC) assembly to mRNA export to cell differentiation.
      Title: Dissecting the NUP107 complex: multiple components and even more functions.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    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

    Associated conditions

    Description Tests
    Galloway-Mowat syndrome 7
    MedGen: C5193044 OMIM: 618348 GeneReviews: Not available
    		not available
    Nephrotic syndrome, type 11
    MedGen: C4225228 OMIM: 616730 GeneReviews: Not available
    		not available
    Ovarian dysgenesis 6
    MedGen: C4748084 OMIM: 618078 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog

    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)

    HIV-1 interactions

    Go to the top of the page Help

    Replication interactions

    Interaction Pubs
    Knockdown of nucleoporin 107kDa (NUP107) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    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 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
    		  
    enables structural constituent of nuclear pore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables structural constituent of nuclear pore IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in female gonad development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mRNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA export from nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nephron development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nuclear pore complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nucleocytoplasmic transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in post-transcriptional tethering of RNA polymerase II gene DNA at nuclear periphery IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    colocalizes_with kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		 PubMed 
    located_in nuclear periphery IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nuclear pore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 

    General protein information

    Go to the top of the page Help
    Preferred Names
    nuclear pore complex protein Nup107
    Names
    nucleoporin 107kDa

    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.

    Genomic

    1. NG_046600.2 RefSeqGene

      Range
      5028..63859
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330192.2 → NP_001317121.1  nuclear pore complex protein Nup107 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in its 5' coding region which also results in a longer 5' UTR compared to variant 1. This variant represents translation initiation at an alternate start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (2) that has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC124890, AJ295745, BE326877
      Consensus CDS
      CCDS81712.1
      UniProtKB/Swiss-Prot
      P57740
      Related
      ENSP00000441448.1, ENST00000539906.5

    2. NM_020401.4 → NP_065134.1  nuclear pore complex protein Nup107 isoform 1

      See identical proteins and their annotated locations for NP_065134.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC124890, AJ295745, BE326877
      Consensus CDS
      CCDS8985.1
      UniProtKB/Swiss-Prot
      B4DZ67, P57740, Q6PJE1
      Related
      ENSP00000229179.4, ENST00000229179.9
      Conserved Domains (1) summary
      pfam04121
      Location:209 → 908
      Nup84_Nup100; Nuclear pore protein 84 / 107

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      68686978..68745809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269037.5 → XP_005269094.1  nuclear pore complex protein Nup107 isoform X1

      Conserved Domains (1) summary
      pfam04121
      Location:209 → 888
      Nup84_Nup100; Nuclear pore protein 84 / 107

    2. XM_047429177.1 → XP_047285133.1  nuclear pore complex protein Nup107 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      68666525..68725366
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372608.1 → XP_054228583.1  nuclear pore complex protein Nup107 isoform X1

    2. XM_054372609.1 → XP_054228584.1  nuclear pore complex protein Nup107 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P57740.1 GenPept UniProtKB/Swiss-Prot:P57740

    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