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    NSA2 NSA2 ribosome biogenesis factor [ Homo sapiens (human) ]

    Gene ID: 10412, updated on 14-Nov-2024

    Summary

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    Official Symbol
    NSA2provided by HGNC
    Official Full Name
    NSA2 ribosome biogenesis factorprovided by HGNC
    Primary source
    HGNC:HGNC:30728
    See related
    Ensembl:ENSG00000164346 MIM:612497; AllianceGenome:HGNC:30728
    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
    HCLG1; TINP1; CDK105; HCL-G1; HUSSY29; HUSSY-29
    Summary
    This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]
    Expression
    Ubiquitous expression in ovary (RPKM 71.9), lymph node (RPKM 43.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NSA2 in Genome Data Viewer
    Location:
    5q13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (74767249..74780113)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (75248136..75261004)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (74063074..74075938)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:73936823-73937538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:73937539-73938252 Neighboring gene Sharpr-MPRA regulatory region 10699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22671 Neighboring gene ectodermal-neural cortex 1 Neighboring gene hexosaminidase subunit beta Neighboring gene ReSE screen-validated silencer GRCh37_chr5:73973961-73974139 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:73980770-73981270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74001994-74002494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74002495-74002995 Neighboring gene RNA, U6 small nuclear 658, pseudogene Neighboring gene GTP dependent ribosome recycling factor mitochondrial 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22675 Neighboring gene RNA, U6 small nuclear 1330, pseudogene Neighboring gene family with sequence similarity 169 member A Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:74090248-74090748 Neighboring gene ARPC1A pseudogene 3 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:74110781-74111468 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:74112436-74113179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16097 Neighboring gene FAM169A antisense RNA 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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Findings indicate a function of Nop-7-associated 2 (NSA2) in the regulation of ribosome biogenesis.
      Title: Nop-7-associated 2 (NSA2) is required for ribosome biogenesis and protein synthesis.
    2. TINP1 promotes cell proliferation and significantly reduces p53 and p21 expression.
      Title: A novel human TINP1 gene promotes cell proliferation through inhibition of p53 and p21 expression.
    3. NSA2, which increases in diabetic nephropathy, may be involved in the actions of TGFbeta1 and contribute to the development of diabetic nephropathy.
      Title: Nop-7-associated 2 (NSA2), a candidate gene for diabetic nephropathy, is involved in the TGFβ1 pathway.
    4. Data suggest that circulating NSA2 is elevated in diabetic nephropathy patients with albuminuria, and that renal and circulating NSA2 levels are increased in hyperglycemia in experimental models of diabetes.
      Title: Elevated levels of renal and circulating Nop-7-associated 2 (NSA2) in rat and mouse models of diabetes, in mesangial cells in vitro and in patients with diabetic nephropathy.
    5. these results demonstrated that NSA2 is a nucleolar protein involved in cell proliferation and cell cycle regulation.
      Title: NSA2, a novel nucleolus protein regulates cell proliferation and cell cycle.
    6. The yeast ortholog, Nsa2, is a pre-ribosomal factor that is essential for biogenesis of the large ribosomal subunit.
      Title: Nsa2 is an unstable, conserved factor required for the maturation of 27 SB pre-rRNAs.
    Submit: New GeneRIF Correction

    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of NSA2 ribosome biogenesis homolog (S. cerevisiae, NSA2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • YR-29

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    Process Evidence Code Pubs
    involved_in maturation of 5.8S rRNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in maturation of LSU-rRNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of preribosome, large subunit precursor IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ribosome biogenesis protein NSA2 homolog
    Names
    NSA2, ribosome biogenesis homolog
    TGF beta-inducible nuclear protein 1
    TGF-beta inducible nuclear protein
    hairy cell leukemia protein 1

    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_001271665.2 → NP_001258594.1  ribosome biogenesis protein NSA2 homolog isoform 2

      See identical proteins and their annotated locations for NP_001258594.1

      Status: REVIEWED

      Source sequence(s)
      AC093214
      Consensus CDS
      CCDS75260.1
      UniProtKB/TrEMBL
      A0A0A0MQZ6
      Related
      ENSP00000296802.6, ENST00000296802.9
      Conserved Domains (1) summary
      cl00880
      Location:4 → 174
      Ribosomal_S8e_like; Eukaryotic/archaeal ribosomal protein S8e and similar proteins

    2. NM_001364506.2 → NP_001351435.1  ribosome biogenesis protein NSA2 homolog isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC093214
      Conserved Domains (1) summary
      cl00880
      Location:4 → 174
      Ribosomal_S8e_like; Eukaryotic/archaeal ribosomal protein S8e and similar proteins

    3. NM_014886.6 → NP_055701.1  ribosome biogenesis protein NSA2 homolog isoform 1

      See identical proteins and their annotated locations for NP_055701.1

      Status: REVIEWED

      Source sequence(s)
      AC093214
      Consensus CDS
      CCDS4025.1
      UniProtKB/Swiss-Prot
      O95478
      UniProtKB/TrEMBL
      Q5J7U2
      Related
      ENSP00000483484.1, ENST00000610426.5
      Conserved Domains (1) summary
      cd11381
      Location:4 → 260
      NSA2; pre-ribosomal protein NSA2 (Nop seven-associated 2)

    RNA

    1. NR_073403.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC093214

    2. NR_157205.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC093214

    3. NR_157206.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC093214

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      74767249..74780113
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      75248136..75261004
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95478.1 GenPept UniProtKB/Swiss-Prot:O95478

    Gene LinkOut

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

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