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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NUSAP1 in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (41332881..41381046)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (39138843..39187208)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    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_001243142.2NP_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:158434
      NUSAP; Nucleolar and spindle-associated protein
    2. NM_001243143.2NP_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:144421
      NUSAP; Nucleolar and spindle-associated protein
    3. NM_001243144.2NP_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:136373
      NUSAP; Nucleolar and spindle-associated protein
    4. NM_001301136.2NP_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:158435
      NUSAP; Nucleolar and spindle-associated protein
    5. NM_016359.5NP_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:159436
      NUSAP; Nucleolar and spindle-associated protein
    6. NM_018454.8NP_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:159435
      NUSAP; Nucleolar and spindle-associated protein

    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_000015.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_006720559.4XP_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:165442
      NUSAP; Nucleolar and spindle-associated protein
    2. XM_006720562.4XP_006720625.1  nucleolar and spindle-associated protein 1 isoform X8

      UniProtKB/TrEMBL
      A8K4B4
      Conserved Domains (1) summary
      pfam16006
      Location:165403
      NUSAP; Nucleolar and spindle-associated protein
    3. XM_005254428.4XP_005254485.1  nucleolar and spindle-associated protein 1 isoform X2

      UniProtKB/TrEMBL
      A8K4B4
      Conserved Domains (1) summary
      pfam16006
      Location:165441
      NUSAP; Nucleolar and spindle-associated protein
    4. XM_005254431.4XP_005254488.1  nucleolar and spindle-associated protein 1 isoform X9

      UniProtKB/TrEMBL
      A8K4B4
      Conserved Domains (1) summary
      pfam16006
      Location:165402
      NUSAP; Nucleolar and spindle-associated protein
    5. XM_047432641.1XP_047288597.1  nucleolar and spindle-associated protein 1 isoform X10

      UniProtKB/TrEMBL
      A8K4B4
    6. XM_006720563.4XP_006720626.1  nucleolar and spindle-associated protein 1 isoform X11

      UniProtKB/TrEMBL
      A8K4B4
      Conserved Domains (1) summary
      pfam16006
      Location:159396
      NUSAP; Nucleolar and spindle-associated protein
    7. XM_006720560.5XP_006720623.1  nucleolar and spindle-associated protein 1 isoform X3

      UniProtKB/TrEMBL
      A8K4B4
      Conserved Domains (1) summary
      pfam16006
      Location:164441
      NUSAP; Nucleolar and spindle-associated protein
    8. XM_047432639.1XP_047288595.1  nucleolar and spindle-associated protein 1 isoform X4

      UniProtKB/TrEMBL
      A8K4B4
    9. XM_047432642.1XP_047288598.1  nucleolar and spindle-associated protein 1 isoform X12

      UniProtKB/TrEMBL
      A8K4B4
    10. XM_047432643.1XP_047288599.1  nucleolar and spindle-associated protein 1 isoform X13

      UniProtKB/TrEMBL
      A8K4B4
    11. XM_006720561.4XP_006720624.1  nucleolar and spindle-associated protein 1 isoform X5

      UniProtKB/TrEMBL
      A8K4B4
      Conserved Domains (1) summary
      pfam16006
      Location:150427
      NUSAP; Nucleolar and spindle-associated protein
    12. XM_047432644.1XP_047288600.1  nucleolar and spindle-associated protein 1 isoform X14

      UniProtKB/TrEMBL
      A8K4B4
    13. XM_047432640.1XP_047288596.1  nucleolar and spindle-associated protein 1 isoform X6

      UniProtKB/TrEMBL
      A8K4B4
    14. XM_047432645.1XP_047288601.1  nucleolar and spindle-associated protein 1 isoform X15

      UniProtKB/TrEMBL
      A8K4B4
    15. XM_047432646.1XP_047288602.1  nucleolar and spindle-associated protein 1 isoform X16

      UniProtKB/TrEMBL
      A8K4B4
    16. XM_005254430.6XP_005254487.1  nucleolar and spindle-associated protein 1 isoform X7

      UniProtKB/TrEMBL
      A8K4B4
      Conserved Domains (1) summary
      pfam16006
      Location:144420
      NUSAP; Nucleolar and spindle-associated protein
    17. XM_017022294.3XP_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_054378153.1XP_054234128.1  nucleolar and spindle-associated protein 1 isoform X10

      UniProtKB/TrEMBL
      A8K4B4
    2. XM_054378144.1XP_054234119.1  nucleolar and spindle-associated protein 1 isoform X1

      UniProtKB/TrEMBL
      A8K4B4
    3. XM_054378151.1XP_054234126.1  nucleolar and spindle-associated protein 1 isoform X8

      UniProtKB/TrEMBL
      A8K4B4
    4. XM_054378145.1XP_054234120.1  nucleolar and spindle-associated protein 1 isoform X2

      UniProtKB/TrEMBL
      A8K4B4
    5. XM_054378152.1XP_054234127.1  nucleolar and spindle-associated protein 1 isoform X9

      UniProtKB/TrEMBL
      A8K4B4
    6. XM_054378154.1XP_054234129.1  nucleolar and spindle-associated protein 1 isoform X11

      UniProtKB/TrEMBL
      A8K4B4
    7. XM_054378146.1XP_054234121.1  nucleolar and spindle-associated protein 1 isoform X3

      UniProtKB/TrEMBL
      A8K4B4
    8. XM_054378147.1XP_054234122.1  nucleolar and spindle-associated protein 1 isoform X4

      UniProtKB/TrEMBL
      A8K4B4
    9. XM_054378155.1XP_054234130.1  nucleolar and spindle-associated protein 1 isoform X12

      UniProtKB/TrEMBL
      A8K4B4
    10. XM_054378156.1XP_054234131.1  nucleolar and spindle-associated protein 1 isoform X13

      UniProtKB/TrEMBL
      A8K4B4
    11. XM_054378148.1XP_054234123.1  nucleolar and spindle-associated protein 1 isoform X5

      UniProtKB/TrEMBL
      A8K4B4
    12. XM_054378157.1XP_054234132.1  nucleolar and spindle-associated protein 1 isoform X14

      UniProtKB/TrEMBL
      A8K4B4
    13. XM_054378149.1XP_054234124.1  nucleolar and spindle-associated protein 1 isoform X6

      UniProtKB/TrEMBL
      A8K4B4
    14. XM_054378158.1XP_054234133.1  nucleolar and spindle-associated protein 1 isoform X15

      UniProtKB/TrEMBL
      A8K4B4
    15. XM_054378159.1XP_054234134.1  nucleolar and spindle-associated protein 1 isoform X16

      UniProtKB/TrEMBL
      A8K4B4
    16. XM_054378150.1XP_054234125.1  nucleolar and spindle-associated protein 1 isoform X7

      UniProtKB/TrEMBL
      A8K4B4
    17. XM_054378160.1XP_054234135.1  nucleolar and spindle-associated protein 1 isoform X17

      UniProtKB/TrEMBL
      A8K4B4

    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.