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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
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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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