NUP107 nucleoporin 107 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
Study shows that 32 copies of the Nup107 subcomplex assemble into two reticulated rings, one each at the cytoplasmic and nuclear face of the nuclear pore complex.
Title: Integrated structural analysis of the human nuclear pore complex scaffold.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	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

NG_046600.2 RefSeqGene

Range

5028..63859

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

68686978..68745809

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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