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NUP205 nucleoporin 205 [ Homo sapiens (human) ]

Gene ID: 23165, updated on 6-Nov-2022

Summary

Official Symbol
NUP205provided by HGNC
Official Full Name
nucleoporin 205provided by HGNC
Primary source
HGNC:HGNC:18658
See related
Ensembl:ENSG00000155561 MIM:614352; AllianceGenome:HGNC:18658
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
NPHS13; C7orf14
Summary
This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]
Expression
Ubiquitous expression in testis (RPKM 10.1), lymph node (RPKM 10.1) and 25 other tissues See more
Orthologs
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Genomic context

See NUP205 in Genome Data Viewer
Location:
7q33
Exon count:
43
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (135557917..135648753)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (136865154..136956021)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (135242665..135333501)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984123 Neighboring gene solute carrier family 23 member 4, pseudogene Neighboring gene CCR4-NOT transcription complex subunit 4 Neighboring gene succinate dehydrogenase complex subunit D pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 5720 Neighboring gene protein max-like Neighboring gene MAX 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 13
MedGen: C4225165 OMIM: 616893 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
EBI GWAS Catalog
Seventy-five genetic loci influencing the human red blood cell.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Interaction of HIV-1 Tat with Nup205 in T-cells is identified by a proteomic strategy based on affinity chromatography 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
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
PubMed 
enables structural constituent of nuclear pore IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in mRNA transport IEA
Inferred from Electronic Annotation
more info
 
involved_in nuclear pore complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nuclear pore organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in nucleocytoplasmic transport IC
Inferred by Curator
more info
PubMed 
involved_in nucleocytoplasmic transport TAS
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
 
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 IC
Inferred by Curator
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 inner ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
nuclear pore complex protein Nup205
Names
205 kDa nucleoporin
nucleoporin Nup205

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_051184.2 RefSeqGene

    Range
    5002..95838
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001329434.2NP_001316363.2  nuclear pore complex protein Nup205 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC093107, KF458614
    Conserved Domains (1) summary
    pfam11894
    Location:11326
    Nup192; Nuclear pore complex scaffold, nucleoporins 186/192/205
  2. NM_015135.3NP_055950.2  nuclear pore complex protein Nup205 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC093107, KF458614
    Consensus CDS
    CCDS34759.1
    UniProtKB/Swiss-Prot
    Q86YC1
    Related
    ENSP00000285968.6, ENST00000285968.11
    Conserved Domains (1) summary
    pfam11894
    Location:1681684
    Nup192; Nuclear pore complex scaffold, nucleoporins 186/192/205

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    135557917..135648753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    136865154..136956021
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)