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NUP107 nucleoporin 107 [ Homo sapiens (human) ]

Gene ID: 57122, updated on 27-Jun-2020

Summary

Official Symbol
NUP107provided by HGNC
Official Full Name
nucleoporin 107provided by HGNC
Primary source
HGNC:HGNC:29914
See related
Ensembl:ENSG00000111581 MIM:607617
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

Genomic context

See NUP107 in Genome Data Viewer
Location:
12q15
Exon count:
28
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (68686971..68745809)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (69080731..69136473)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RAP1B, member of RAS oncogene family Neighboring gene ATP synthase peripheral stalk subunit d pseudogene 4 Neighboring gene uncharacterized LOC100507250 Neighboring gene ribosomal protein L7 pseudogene 42 Neighboring gene keratin 8 pseudogene 39 Neighboring gene solute carrier family 35 member E3 Neighboring gene MAPK activated protein kinase 2 pseudogene Neighboring gene uncharacterized LOC105369820

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

NHGRI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural constituent of nuclear pore IDA
Inferred from Direct Assay
more info
PubMed 
structural constituent of nuclear pore IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
female gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular transport of virus TAS
Traceable Author Statement
more info
 
mRNA export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA export from nucleus IDA
Inferred from Direct Assay
more info
PubMed 
mRNA export from nucleus TAS
Traceable Author Statement
more info
 
nephron development IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear pore complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein sumoylation TAS
Traceable Author Statement
more info
 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
regulation of gene silencing by miRNA TAS
Traceable Author Statement
more info
 
regulation of glycolytic process TAS
Traceable Author Statement
more info
 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA export from nucleus TAS
Traceable Author Statement
more info
 
viral process TAS
Traceable Author Statement
more info
 
viral transcription TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
host cell IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nuclear envelope TAS
Traceable Author Statement
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear periphery IDA
Inferred from Direct Assay
more info
PubMed 
nuclear pore IDA
Inferred from Direct Assay
more info
PubMed 
nuclear pore outer ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear pore outer ring IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    P57740
    Related
    ENSP00000229179.4, ENST00000229179.9
    Conserved Domains (1) summary
    pfam04121
    Location:209908
    Nup84_Nup100; Nuclear pore protein 84 / 107

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    68686971..68745809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269037.4XP_005269094.1  nuclear pore complex protein Nup107 isoform X1

    Conserved Domains (1) summary
    pfam04121
    Location:209888
    Nup84_Nup100; Nuclear pore protein 84 / 107
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