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NUP160 nucleoporin 160 [ Homo sapiens (human) ]

Gene ID: 23279, updated on 27-Nov-2024

Summary

Official Symbol
NUP160provided by HGNC
Official Full Name
nucleoporin 160provided by HGNC
Primary source
HGNC:HGNC:18017
See related
Ensembl:ENSG00000030066 MIM:607614; AllianceGenome:HGNC:18017
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NPHS19
Summary
A structural constituent of nuclear pore. Involved in mRNA export from nucleus and nephron development. Located in kinetochore. Part of nuclear pore outer ring. Implicated in nephrotic syndrome type 19. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in lymph node (RPKM 10.0), appendix (RPKM 9.5) and 25 other tissues See more
Orthologs
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Genomic context

See NUP160 in Genome Data Viewer
Location:
11p11.2
Exon count:
36
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47778118..47848544, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47943085..48013487, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47799670..47870096, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12296 Neighboring gene AGBL carboxypeptidase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4702 Neighboring gene formin binding protein 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47787258-47788183 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47788184-47789108 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47834932-47835432 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47835433-47835933 Neighboring gene RNA, 5S ribosomal pseudogene 340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4706 Neighboring gene YPEL5 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4709 Neighboring gene uncharacterized LOC124902844 Neighboring gene SEC61 translocon subunit beta pseudogene

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
Nephrotic syndrome, type 19 Compare labs

EBI GWAS Catalog

Description
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
EBI GWAS Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of nucleoporin 160kDa (NUP160) 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

Clone Names

  • MGC150678, MGC150679, DKFZp686M14102

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 
Process Evidence Code Pubs
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 nucleocytoplasmic transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
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 nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear envelope TAS
Traceable Author Statement
more info
 
part_of nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
 
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 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 Nup160
Names
160 kDa nucleoporin
nucleoporin 160kD
nucleoporin 160kDa
nucleoporin Nup160

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.

mRNA and Protein(s)

  1. NM_001318399.1NP_001305328.1  nuclear pore complex protein Nup160 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK026236, BC009822, BI559779
    Consensus CDS
    CCDS81567.1
    UniProtKB/TrEMBL
    A0A8Q3WK58
    Related
    ENSP00000431495.1, ENST00000526870.1
    Conserved Domains (1) summary
    pfam11715
    Location:62175
    Nup160; Nucleoporin Nup120/160
  2. NM_015231.3NP_056046.2  nuclear pore complex protein Nup160 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC021443, AC023232
    Consensus CDS
    CCDS31484.2
    UniProtKB/Swiss-Prot
    B4DYE8, B4E2J9, Q08AD3, Q12769, Q7Z5X6, Q96GB3, Q9H660
    UniProtKB/TrEMBL
    A0A8V8NBT1
    Related
    ENSP00000367721.3, ENST00000378460.7

RNA

  1. NR_134636.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC021443, AC023232

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    47778118..47848544 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_019805496.1 Reference GRCh38.p14 PATCHES

    Range
    210485..272955 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    47943085..48013487 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)