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    NUSAP1 nucleolar and spindle associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 51203, updated on 3-Apr-2024

    Summary

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    Official Symbol
    NUSAP1provided by HGNC
    Official Full Name
    nucleolar and spindle associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:18538
    See related
    Ensembl:ENSG00000137804 MIM:612818; AllianceGenome:HGNC:18538
    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
    Also known as
    LNP; ANKT; SAPL; BM037; NUSAP; Q0310; PRO0310p1
    Summary
    NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707]).[supplied by OMIM, Jun 2009]
    Expression
    Broad expression in bone marrow (RPKM 30.9), lymph node (RPKM 16.8) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    15q15.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (41332881..41381046)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (39138843..39187208)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (41625079..41673244)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak2306 silencer Neighboring gene calcineurin like EF-hand protein 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:41575083-41575824 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:41577309-41578048 Neighboring gene OIP5 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41628937-41629558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41629559-41630180 Neighboring gene Opa interacting protein 5 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:41675757-41676295 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9280 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9281 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:41723973-41724473 Neighboring gene RTF1 homolog, Paf1/RNA polymerase II complex component Neighboring gene RNA, U6 small nuclear 1169, pseudogene

    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. NUSAP1 regulates basal cell carcinoma migration, invasion and DNA damage through activation of the Hedgehog signaling pathway. Zhu Y, et al. Physiol Int, 2023 Jun 12. PMID 37200136
    2. A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay. Mo A, et al. Clin Genet, 2023 Jul. PMID 37005340, Free PMC Article
    3. NUSAP1, a novel stemness-related protein, promotes early recurrence of hepatocellular carcinoma. Li J, et al. Cancer Sci, 2022 Dec. PMID 36106345, Free PMC Article
    4. Identification and clinical validation of NUSAP1 as a novel prognostic biomarker in ovarian cancer. Gou R, et al. BMC Cancer, 2022 Jun 23. PMID 35739489, Free PMC Article
    5. Evaluate the diagnostic and prognostic value of NUSAP1 in papillary thyroid carcinoma and identify the relationship with genes, proteins, and immune factors. Gao T, et al. World J Surg Oncol, 2022 Jun 16. PMID 35710427, Free PMC Article

    See all (95) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NUSAP1 promotes pancreatic ductal adenocarcinoma progression by drives the epithelial-mesenchymal transition and reduces AMPK phosphorylation.
      Title: NUSAP1 promotes pancreatic ductal adenocarcinoma progression by drives the epithelial-mesenchymal transition and reduces AMPK phosphorylation.
    2. NuSAP regulates microtubule flux and Kif2A localization to ensure accurate chromosome congression.
      Title: NuSAP regulates microtubule flux and Kif2A localization to ensure accurate chromosome congression.
    3. NUSAP1 regulates basal cell carcinoma migration, invasion and DNA damage through activation of the Hedgehog signaling pathway.
      Title: NUSAP1 regulates basal cell carcinoma migration, invasion and DNA damage through activation of the Hedgehog signaling pathway.
    4. A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
      Title: A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
    5. NUSAP1 Binds ILF2 to Modulate R-Loop Accumulation and DNA Damage in Prostate Cancer.
      Title: NUSAP1 Binds ILF2 to Modulate R-Loop Accumulation and DNA Damage in Prostate Cancer.
    6. NUSAP1, a novel stemness-related protein, promotes early recurrence of hepatocellular carcinoma.
      Title: NUSAP1, a novel stemness-related protein, promotes early recurrence of hepatocellular carcinoma.
    7. Knockdown of NUSAP1 inhibits cell proliferation and invasion through downregulation of TOP2A in human glioblastoma.
      Title: Knockdown of NUSAP1 inhibits cell proliferation and invasion through downregulation of TOP2A in human glioblastoma.
    8. Identification and clinical validation of NUSAP1 as a novel prognostic biomarker in ovarian cancer.
      Title: Identification and clinical validation of NUSAP1 as a novel prognostic biomarker in ovarian cancer.
    9. Evaluate the diagnostic and prognostic value of NUSAP1 in papillary thyroid carcinoma and identify the relationship with genes, proteins, and immune factors.
      Title: Evaluate the diagnostic and prognostic value of NUSAP1 in papillary thyroid carcinoma and identify the relationship with genes, proteins, and immune factors.
    10. Prognostic Value of NUSAP1 and Its Correlation with Immune Infiltrates in Human Breast Cancer.
      Title: Prognostic Value of NUSAP1 and Its Correlation with Immune Infiltrates in Human Breast Cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    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

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    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

    • FLJ13421

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in establishment of mitotic spindle localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within establishment of mitotic spindle localization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitotic chromosome condensation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within mitotic chromosome condensation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitotic cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within mitotic cytokinesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within mitotic sister chromatid segregation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of mitotic nuclear division IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitotic spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    nucleolar and spindle-associated protein 1
    Names
    nucleolar protein ANKT

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001243142.2 → NP_001230071.1  nucleolar and spindle-associated protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001230071.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in both the 5' and central coding regions, compared to variant 1, resulting in an isoform (4) that is 2 aa shorter than isoform 1.
      Source sequence(s)
      AK222819, BC024772, DB046574
      Consensus CDS
      CCDS58356.1
      UniProtKB/TrEMBL
      A8K4B4
      Related
      ENSP00000454097.1, ENST00000560747.5
      Conserved Domains (1) summary
      pfam16006
      Location:158 → 434
      NUSAP; Nucleolar and spindle-associated protein

    2. NM_001243143.2 → NP_001230072.1  nucleolar and spindle-associated protein 1 isoform 5

      See identical proteins and their annotated locations for NP_001230072.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (5) that is shorter than isoform 1.
      Source sequence(s)
      AC087721, AL833611, DB046574
      Consensus CDS
      CCDS58357.1
      UniProtKB/TrEMBL
      A8K4B4
      Related
      ENSP00000260359.6, ENST00000260359.10
      Conserved Domains (1) summary
      pfam16006
      Location:144 → 421
      NUSAP; Nucleolar and spindle-associated protein

    3. NM_001243144.2 → NP_001230073.1  nucleolar and spindle-associated protein 1 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon in both the 5' and 3' coding regions, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
      Source sequence(s)
      AC087721, AK293168, BC001308
      Consensus CDS
      CCDS58358.1
      UniProtKB/TrEMBL
      A8K4B4
      Related
      ENSP00000401014.2, ENST00000450592.6
      Conserved Domains (1) summary
      pfam16006
      Location:136 → 373
      NUSAP; Nucleolar and spindle-associated protein

    4. NM_001301136.2 → NP_001288065.1  nucleolar and spindle-associated protein 1 isoform 7

      See identical proteins and their annotated locations for NP_001288065.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (7) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      BC012887, DB046574
      Consensus CDS
      CCDS73708.1
      UniProtKB/TrEMBL
      A8K4B4
      Related
      ENSP00000453657.1, ENST00000560177.5
      Conserved Domains (1) summary
      pfam16006
      Location:158 → 435
      NUSAP; Nucleolar and spindle-associated protein

    5. NM_016359.5 → NP_057443.2  nucleolar and spindle-associated protein 1 isoform 1

      See identical proteins and their annotated locations for NP_057443.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF290612, DB046574
      Consensus CDS
      CCDS45234.1
      UniProtKB/Swiss-Prot
      B4DDF1, E7ERR5, J3KN21, Q53GW2, Q8TBT4, Q96E58, Q96FJ1, Q9BXS6, Q9GZM9, Q9NZ85, Q9UI70
      UniProtKB/TrEMBL
      A8K4B4
      Related
      ENSP00000453403.1, ENST00000559596.6
      Conserved Domains (1) summary
      pfam16006
      Location:159 → 436
      NUSAP; Nucleolar and spindle-associated protein

    6. NM_018454.8 → NP_060924.4  nucleolar and spindle-associated protein 1 isoform 2

      See identical proteins and their annotated locations for NP_060924.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      BC001308, DB046574
      Consensus CDS
      CCDS45236.1
      UniProtKB/TrEMBL
      A8K4B4
      Related
      ENSP00000400746.2, ENST00000414849.6
      Conserved Domains (1) summary
      pfam16006
      Location:159 → 435
      NUSAP; Nucleolar and spindle-associated protein

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      41332881..41381046
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006720559.4 → XP_006720622.1  nucleolar and spindle-associated protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006720622.1

      UniProtKB/TrEMBL
      A8K4B4
      Conserved Domains (1) summary
      pfam16006
      Location:165 → 442
      NUSAP; Nucleolar and spindle-associated protein

    2. XM_006720562.4 → XP_006720625.1  nucleolar and spindle-associated protein 1 isoform X8

      UniProtKB/TrEMBL
      A8K4B4
      Conserved Domains (1) summary
      pfam16006
      Location:165 → 403
      NUSAP; Nucleolar and spindle-associated protein

    3. XM_005254428.4 → XP_005254485.1  nucleolar and spindle-associated protein 1 isoform X2

      UniProtKB/TrEMBL
      A8K4B4
      Conserved Domains (1) summary
      pfam16006
      Location:165 → 441
      NUSAP; Nucleolar and spindle-associated protein

    4. XM_005254431.4 → XP_005254488.1  nucleolar and spindle-associated protein 1 isoform X9

      UniProtKB/TrEMBL
      A8K4B4
      Conserved Domains (1) summary
      pfam16006
      Location:165 → 402
      NUSAP; Nucleolar and spindle-associated protein

    5. XM_047432641.1 → XP_047288597.1  nucleolar and spindle-associated protein 1 isoform X10

    6. XM_006720563.4 → XP_006720626.1  nucleolar and spindle-associated protein 1 isoform X11

      UniProtKB/TrEMBL
      A8K4B4
      Conserved Domains (1) summary
      pfam16006
      Location:159 → 396
      NUSAP; Nucleolar and spindle-associated protein

    7. XM_006720560.5 → XP_006720623.1  nucleolar and spindle-associated protein 1 isoform X3

      UniProtKB/TrEMBL
      A8K4B4
      Conserved Domains (1) summary
      pfam16006
      Location:164 → 441
      NUSAP; Nucleolar and spindle-associated protein

    8. XM_047432639.1 → XP_047288595.1  nucleolar and spindle-associated protein 1 isoform X4

    9. XM_047432642.1 → XP_047288598.1  nucleolar and spindle-associated protein 1 isoform X12

    10. XM_047432643.1 → XP_047288599.1  nucleolar and spindle-associated protein 1 isoform X13

    11. XM_006720561.4 → XP_006720624.1  nucleolar and spindle-associated protein 1 isoform X5

      UniProtKB/TrEMBL
      A8K4B4
      Conserved Domains (1) summary
      pfam16006
      Location:150 → 427
      NUSAP; Nucleolar and spindle-associated protein

    12. XM_047432644.1 → XP_047288600.1  nucleolar and spindle-associated protein 1 isoform X14

    13. XM_047432640.1 → XP_047288596.1  nucleolar and spindle-associated protein 1 isoform X6

    14. XM_047432645.1 → XP_047288601.1  nucleolar and spindle-associated protein 1 isoform X15

    15. XM_047432646.1 → XP_047288602.1  nucleolar and spindle-associated protein 1 isoform X16

    16. XM_005254430.6 → XP_005254487.1  nucleolar and spindle-associated protein 1 isoform X7

      UniProtKB/TrEMBL
      A8K4B4
      Conserved Domains (1) summary
      pfam16006
      Location:144 → 420
      NUSAP; Nucleolar and spindle-associated protein

    17. XM_017022294.3 → XP_016877783.1  nucleolar and spindle-associated protein 1 isoform X17

      UniProtKB/TrEMBL
      A8K4B4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      39138843..39187208
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378153.1 → XP_054234128.1  nucleolar and spindle-associated protein 1 isoform X10

    2. XM_054378144.1 → XP_054234119.1  nucleolar and spindle-associated protein 1 isoform X1

    3. XM_054378151.1 → XP_054234126.1  nucleolar and spindle-associated protein 1 isoform X8

    4. XM_054378145.1 → XP_054234120.1  nucleolar and spindle-associated protein 1 isoform X2

    5. XM_054378152.1 → XP_054234127.1  nucleolar and spindle-associated protein 1 isoform X9

    6. XM_054378154.1 → XP_054234129.1  nucleolar and spindle-associated protein 1 isoform X11

    7. XM_054378146.1 → XP_054234121.1  nucleolar and spindle-associated protein 1 isoform X3

    8. XM_054378147.1 → XP_054234122.1  nucleolar and spindle-associated protein 1 isoform X4

    9. XM_054378155.1 → XP_054234130.1  nucleolar and spindle-associated protein 1 isoform X12

    10. XM_054378156.1 → XP_054234131.1  nucleolar and spindle-associated protein 1 isoform X13

    11. XM_054378148.1 → XP_054234123.1  nucleolar and spindle-associated protein 1 isoform X5

    12. XM_054378157.1 → XP_054234132.1  nucleolar and spindle-associated protein 1 isoform X14

    13. XM_054378149.1 → XP_054234124.1  nucleolar and spindle-associated protein 1 isoform X6

    14. XM_054378158.1 → XP_054234133.1  nucleolar and spindle-associated protein 1 isoform X15

    15. XM_054378159.1 → XP_054234134.1  nucleolar and spindle-associated protein 1 isoform X16

    16. XM_054378150.1 → XP_054234125.1  nucleolar and spindle-associated protein 1 isoform X7

    17. XM_054378160.1 → XP_054234135.1  nucleolar and spindle-associated protein 1 isoform X17

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001129897.1: Suppressed sequence

      Description
      NM_001129897.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXS6.1 GenPept UniProtKB/Swiss-Prot:Q9BXS6

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