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    NUP107 nucleoporin 107 [ Homo sapiens (human) ]

    Gene ID: 57122, updated on 9-Jun-2024

    Summary

    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
    NEW
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    Genomic context

    See NUP107 in Genome Data Viewer
    Location:
    12q15
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (68686978..68745809)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (68666525..68725366)
    105.20220307 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

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    nuclear pore complex protein Nup107
    Names
    nucleoporin 107kDa

    NCBI Reference Sequences (RefSeq)

    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_001330192.2NP_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_020401.4NP_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:209908
      Nup84_Nup100; Nuclear pore protein 84 / 107

    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_000012.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      Conserved Domains (1) summary
      pfam04121
      Location:209888
      Nup84_Nup100; Nuclear pore protein 84 / 107
    2. XM_047429177.1XP_047285133.1  nuclear pore complex protein Nup107 isoform X2

      UniProtKB/TrEMBL
      B3KMK0

    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_054372608.1XP_054228583.1  nuclear pore complex protein Nup107 isoform X1

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

      UniProtKB/TrEMBL
      B3KMK0