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    NUP210L nucleoporin 210 like [ Homo sapiens (human) ]

    Gene ID: 91181, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NUP210Lprovided by HGNC
    Official Full Name
    nucleoporin 210 likeprovided by HGNC
    Primary source
    HGNC:HGNC:29915
    See related
    Ensembl:ENSG00000143552 AllianceGenome:HGNC:29915
    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
    Summary
    Predicted to act upstream of or within Sertoli cell development and spermatid development. Predicted to be located in membrane. Predicted to be part of nuclear pore. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 16.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See NUP210L in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (153992690..154155116, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (153129953..153292344, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (153965166..154127592, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1771 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:153958417-153958918 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:153962963-153964162 Neighboring gene uncharacterized LOC124904673 Neighboring gene RAB13, member RAS oncogene family Neighboring gene ReSE screen-validated silencer GRCh37_chr1:153979675-153979936 Neighboring gene ribosomal protein L34 pseudogene 5 Neighboring gene ribosomal protein S27 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:154010667-154010888 Neighboring gene RNA, U6 small nuclear 179, pseudogene Neighboring gene ribosomal protein S7 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154070062-154070562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154070563-154071063 Neighboring gene microRNA 5698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154126882-154127382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154127383-154127883 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:154128490-154128667 Neighboring gene RNA, 7SL, cytoplasmic 431, pseudogene Neighboring gene tropomyosin 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154152669-154153665 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:154154639-154155265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1773 Neighboring gene microRNA 190b

    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. A germline-specific class of small RNAs binds mammalian Piwi proteins. Girard A, et al. Nature, 2006 Jul 13. PMID 16751776
    2. HSF1 phosphorylation establishes an active chromatin state via the TRRAP-TIP60 complex and promotes tumorigenesis. Fujimoto M, et al. Nat Commun, 2022 Jul 29. PMID 35906200, Free PMC Article
    3. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. Li X, et al. Mol Cell Proteomics, 2016 Sep. PMID 27432908, Free PMC Article
    4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    5. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article

    See all (8) 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

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of nuclear pore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    nuclear pore membrane glycoprotein 210-like
    Names
    nuclear pore membrane glycoprotein 210-like (LOC91181)
    nucleoporin 210kDa like
    nucleoporin Nup210-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.

    mRNA and Protein(s)

    1. NM_001159484.1 → NP_001152956.1  nuclear pore membrane glycoprotein 210-like isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two coding exons in the 3' region, compared to variant 1. The resulting isoform (2) lacks an internal segment but has identical N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AK128000, AL133633, AL513546, AL833964, BX648132
      Consensus CDS
      CCDS53370.1
      UniProtKB/Swiss-Prot
      Q5VU65
      Related
      ENSP00000271854.3, ENST00000271854.3
      Conserved Domains (1) summary
      pfam02368
      Location:1083 → 1157
      Big_2; Bacterial Ig-like domain (group 2)

    2. NM_207308.3 → NP_997191.2  nuclear pore membrane glycoprotein 210-like isoform 1 precursor

      See identical proteins and their annotated locations for NP_997191.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL358472, AL513546, AL590431
      Consensus CDS
      CCDS41399.1
      UniProtKB/Swiss-Prot
      E7EP56, Q5T4L7, Q5VU65, Q6ZRN1, Q6ZRT4, Q6ZU81, Q8NDI6, Q9UF31
      Related
      ENSP00000357547.3, ENST00000368559.8
      Conserved Domains (2) summary
      pfam02368
      Location:1083 → 1157
      Big_2; Bacterial Ig-like domain (group 2)
      cl00732
      Location:274 → 383
      Arch_flagellin; Archaebacterial flagellin

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      153992690..154155116 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510122.2 → XP_011508424.1  nuclear pore membrane glycoprotein 210-like isoform X2

      Conserved Domains (2) summary
      pfam02368
      Location:1039 → 1113
      Big_2; Bacterial Ig-like domain (group 2)
      cl00732
      Location:230 → 339
      Arch_flagellin; Archaebacterial flagellin

    2. XM_011510123.2 → XP_011508425.1  nuclear pore membrane glycoprotein 210-like isoform X3

      Conserved Domains (2) summary
      pfam02368
      Location:1083 → 1157
      Big_2; Bacterial Ig-like domain (group 2)
      cl00732
      Location:274 → 383
      Arch_flagellin; Archaebacterial flagellin

    3. XM_017002788.3 → XP_016858277.1  nuclear pore membrane glycoprotein 210-like isoform X1

    4. XM_047433904.1 → XP_047289860.1  nuclear pore membrane glycoprotein 210-like isoform X6

    5. XM_011510124.2 → XP_011508426.1  nuclear pore membrane glycoprotein 210-like isoform X4

      Conserved Domains (2) summary
      pfam02368
      Location:1083 → 1157
      Big_2; Bacterial Ig-like domain (group 2)
      cl00732
      Location:274 → 383
      Arch_flagellin; Archaebacterial flagellin

    6. XM_017002789.3 → XP_016858278.1  nuclear pore membrane glycoprotein 210-like isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      153129953..153292344 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339547.1 → XP_054195522.1  nuclear pore membrane glycoprotein 210-like isoform X2

    2. XM_054339548.1 → XP_054195523.1  nuclear pore membrane glycoprotein 210-like isoform X3

    3. XM_054339546.1 → XP_054195521.1  nuclear pore membrane glycoprotein 210-like isoform X1

    4. XM_054339551.1 → XP_054195526.1  nuclear pore membrane glycoprotein 210-like isoform X6

    5. XM_054339549.1 → XP_054195524.1  nuclear pore membrane glycoprotein 210-like isoform X4

    6. XM_054339550.1 → XP_054195525.1  nuclear pore membrane glycoprotein 210-like isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VU65.1 GenPept UniProtKB/Swiss-Prot:Q5VU65

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