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NUP62CL nucleoporin 62 C-terminal like [ Homo sapiens (human) ]

Gene ID: 54830, updated on 11-Apr-2024

Summary

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Official Symbol
NUP62CLprovided by HGNC
Official Full Name
nucleoporin 62 C-terminal likeprovided by HGNC
Primary source
HGNC:HGNC:25960
See related
Ensembl:ENSG00000198088 AllianceGenome:HGNC:25960
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
Summary
This gene encodes a protein containing a domain found in nucleoporins which are glycoproteins found in nuclear pore complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Expression
Broad expression in testis (RPKM 5.8), adrenal (RPKM 5.6) and 18 other tissues See more
Orthologs
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Genomic context

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Location:
Xq22.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (107123427..107206433, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (105559960..105642842, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (106366657..106449663, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 40 Neighboring gene RNA binding motif protein 41 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29832 Neighboring gene GTF3C6 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:106399301-106399461 Neighboring gene dynein axonemal assembly factor 6 Neighboring gene MYCL 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
  • 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. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
  2. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. Martin TD, et al. Cell Rep, 2017 Jul 11. PMID 28700943, Free PMC Article
  3. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. Yachie N, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107012, Free PMC Article
  4. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Dias Neto E, et al. Proc Natl Acad Sci U S A, 2000 Mar 28. PMID 10737800, Free PMC Article
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Yang X, et al. Cell, 2016 Feb 11. PMID 26871637, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20130

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 IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
nucleoporin-62 C-terminal-like protein
Names
nucleoporin 62kDa C-terminal like

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_021315.1 RefSeqGene

    Range
    5008..88014
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017681.3 → NP_060151.2  nucleoporin-62 C-terminal-like protein

    See identical proteins and their annotated locations for NP_060151.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    BC016327, BF805909, BX105515, DB448067
    Consensus CDS
    CCDS14527.1
    UniProtKB/Swiss-Prot
    D3DUX4, Q8WVL6, Q9H1M0, Q9NXP2
    UniProtKB/TrEMBL
    A0A0S2Z5B5, A0A0S2Z5E8
    Related
    ENSP00000361544.4, ENST00000372466.8
    Conserved Domains (1) summary
    pfam05064
    Location:61 → 173
    Nsp1_C; Nsp1-like C-terminal region

RNA

  1. NR_033676.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI702317, BC017799
    Related
    ENST00000484614.5

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

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    107123427..107206433 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    105559960..105642842 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H1M0.3 GenPept UniProtKB/Swiss-Prot:Q9H1M0

Gene LinkOut

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