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

    Gene ID: 54830, updated on 9-Dec-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
    mouse all
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    Genomic context

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    See NUP62CL in Genome Data Viewer
    Location:
    Xq22.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (107123427..107206433, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (105559960..105642842, complement)
    RS_2024_09 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 (19) 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)

    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
    		  
    Process Evidence Code Pubs
    involved_in nucleocytoplasmic transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_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_001433614.1 → NP_001420543.1  nucleoporin-62 C-terminal-like protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL136112, AL390039

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

      See identical proteins and their annotated locations for NP_060151.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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