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

Gene ID: 10412, updated on 3-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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Related articles in PubMed

  1. Nop-7-associated 2 (NSA2) is required for ribosome biogenesis and protein synthesis. Xing J, et al. Biochem Biophys Res Commun, 2018 Oct 20. PMID 30243719
  2. Molecular analysis of the human chromosome 5q13.3 region in patients with hairy cell leukemia and identification of tumor suppressor gene candidates. Wu X, et al. Genomics, 1999 Sep 1. PMID 10486207
  3. A novel human TINP1 gene promotes cell proliferation through inhibition of p53 and p21 expression. Li W, et al. Oncol Rep, 2013 Oct. PMID 23912275
  4. NSA2, a novel nucleolus protein regulates cell proliferation and cell cycle. Zhang H, et al. Biochem Biophys Res Commun, 2010 Jan 1. PMID 19932687
  5. Nop-7-associated 2 (NSA2), a candidate gene for diabetic nephropathy, is involved in the TGFβ1 pathway. Shahni R, et al. Int J Biochem Cell Biol, 2013 Mar. PMID 23220173

See all (85) citations in PubMed

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)

Genotypes

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
  
located_in nucleolus IEA
Inferred from Electronic Annotation
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

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