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NUP107 nucleoporin 107 [ Homo sapiens (human) ]

Gene ID: 57122, updated on 2-Nov-2024

Summary

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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
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Genomic context

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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

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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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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. 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
  3. NUP107 mutations in children with steroid-resistant nephrotic syndrome. Park E, et al. Nephrol Dial Transplant, 2017 Jun 1. PMID 27190346
  4. Dissecting the NUP107 complex: multiple components and even more functions. González-Aguilera C, et al. Nucleus, 2012 Jul 1. PMID 22713280
  5. 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

See all (154) 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

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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
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

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 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

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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 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

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Preferred Names
nuclear pore complex protein Nup107
Names
nucleoporin 107kDa

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_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

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