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    INTS13 integrator complex subunit 13 [ Homo sapiens (human) ]

    Gene ID: 55726, updated on 3-Apr-2024

    Summary

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    Official Symbol
    INTS13provided by HGNC
    Official Full Name
    integrator complex subunit 13provided by HGNC
    Primary source
    HGNC:HGNC:20174
    See related
    Ensembl:ENSG00000064102 MIM:615079; AllianceGenome:HGNC:20174
    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
    ASUN; GCT1; NET48; Mat89Bb; SPATA30; C12orf11
    Summary
    Involved in regulation of mitotic cell cycle. Acts upstream of or within centrosome localization; mitotic spindle organization; and protein localization to nuclear envelope. Located in cytoplasm and nuclear body. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal (RPKM 8.5), lymph node (RPKM 6.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12p11.23
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (26905181..26938332, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (26777183..26810389, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (27058114..27090914, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene inositol 1,4,5-trisphosphate receptor type 2 Neighboring gene uncharacterized LOC124902902 Neighboring gene enoyl-CoA hydratase domain containing 2 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4305 Neighboring gene Sharpr-MPRA regulatory region 14818 Neighboring gene MPRA-validated peak1624 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr12:27037949-27038123 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:27091219-27091728 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:27091729-27092237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4307 Neighboring gene FGFR1 oncogene partner 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4308 Neighboring gene transmembrane 7 superfamily member 3

    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. INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex. Mascibroda LG, et al. Nat Commun, 2022 Oct 13. PMID 36229431, Free PMC Article
    2. Genomic and expression analysis of the 12p11-p12 amplicon using EST arrays identifies two novel amplified and overexpressed genes. Bourdon V, et al. Cancer Res, 2002 Nov 1. PMID 12414650
    3. Human Asunder promotes dynein recruitment and centrosomal tethering to the nucleus at mitotic entry. Jodoin JN, et al. Mol Biol Cell, 2012 Dec. PMID 23097494, Free PMC Article
    4. Drosophila genome-scale screen for PAN GU kinase substrates identifies Mat89Bb as a cell cycle regulator. Lee LA, et al. Dev Cell, 2005 Mar. PMID 15737938
    5. Structure of the catalytic core of the Integrator complex. Pfleiderer MM, et al. Mol Cell, 2021 Mar 18. PMID 33548203, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
      Title: INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
    2. INTS10-INTS13-INTS14 form a functional module of Integrator that binds nucleic acids and the cleavage module.
      Title: INTS10-INTS13-INTS14 form a functional module of Integrator that binds nucleic acids and the cleavage module.
    3. ASUN is identified as a functional component of Integrator (INT), a multisubunit complex required for 3'-end processing of small nuclear RNAs.
      Title: Nuclear-localized Asunder regulates cytoplasmic dynein localization via its role in the integrator complex.
    4. Data suggest that ASUN promotes perinuclear enrichment of dynein at G2/M that facilitates BICD2- and CENP-F-mediated anchoring of dynein to nuclear pore complexes.
      Title: Human Asunder promotes dynein recruitment and centrosomal tethering to the nucleus at mitotic entry.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10630, FLJ10637

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in centrosome localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within centrosome localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within mitotic spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization to nuclear envelope IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of fertilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription elongation by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in snRNA processing NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of integrator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of integrator complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    integrator complex subunit 13
    Names
    asunder, spermatogenesis regulator homolog (Drosphila)
    cell cycle regulator Mat89Bb homolog
    germ cell tumor 1
    protein asunder homolog
    sarcoma antigen NY-SAR-95
    spermatogenesis associated 30

    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_018164.3 → NP_060634.2  integrator complex subunit 13

      See identical proteins and their annotated locations for NP_060634.2

      Status: VALIDATED

      Source sequence(s)
      BC008368, BM684866, DB239903
      Consensus CDS
      CCDS8708.1
      UniProtKB/Swiss-Prot
      B4DNK1, Q86WE2, Q96HM2, Q9BTX2, Q9NTB6, Q9NVM5, Q9NVM9
      Related
      ENSP00000261191.7, ENST00000261191.12
      Conserved Domains (1) summary
      pfam10221
      Location:4 → 692
      DUF2151; Cell cycle and development regulator

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      26905181..26938332 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449055.2 → XP_024304823.1  integrator complex subunit 13 isoform X9

      Conserved Domains (1) summary
      pfam10221
      Location:7 → 608
      DUF2151; Cell cycle and development regulator

    2. XM_047429145.1 → XP_047285101.1  integrator complex subunit 13 isoform X4

    3. XM_047429146.1 → XP_047285102.1  integrator complex subunit 13 isoform X8

    4. XM_017019635.2 → XP_016875124.1  integrator complex subunit 13 isoform X6

      Conserved Domains (1) summary
      pfam10221
      Location:7 → 633
      DUF2151; Cell cycle and development regulator

    5. XM_017019632.2 → XP_016875121.1  integrator complex subunit 13 isoform X2

      UniProtKB/Swiss-Prot
      B4DNK1, Q86WE2, Q96HM2, Q9BTX2, Q9NTB6, Q9NVM5, Q9NVM9
      Conserved Domains (1) summary
      pfam10221
      Location:4 → 692
      DUF2151; Cell cycle and development regulator

    6. XM_011520750.3 → XP_011519052.1  integrator complex subunit 13 isoform X1

      See identical proteins and their annotated locations for XP_011519052.1

      Conserved Domains (1) summary
      pfam10221
      Location:7 → 696
      DUF2151; Cell cycle and development regulator

    7. XM_047429147.1 → XP_047285103.1  integrator complex subunit 13 isoform X9

    8. XM_017019634.2 → XP_016875123.1  integrator complex subunit 13 isoform X4

    9. XM_017019633.2 → XP_016875122.1  integrator complex subunit 13 isoform X3

    10. XM_017019636.3 → XP_016875125.1  integrator complex subunit 13 isoform X8

    11. XM_005253422.5 → XP_005253479.1  integrator complex subunit 13 isoform X6

      See identical proteins and their annotated locations for XP_005253479.1

      Conserved Domains (1) summary
      pfam10221
      Location:7 → 633
      DUF2151; Cell cycle and development regulator

    12. XM_011520752.4 → XP_011519054.1  integrator complex subunit 13 isoform X7

      Conserved Domains (1) summary
      pfam10221
      Location:7 → 621
      DUF2151; Cell cycle and development regulator

    13. XM_011520751.4 → XP_011519053.1  integrator complex subunit 13 isoform X5

      See identical proteins and their annotated locations for XP_011519053.1

      Conserved Domains (1) summary
      pfam10221
      Location:4 → 641
      DUF2151; Cell cycle and development regulator

    14. XM_047429144.1 → XP_047285100.1  integrator complex subunit 13 isoform X1

    15. XM_011520753.3 → XP_011519055.1  integrator complex subunit 13 isoform X10

      UniProtKB/TrEMBL
      H0YH12
      Related
      ENSP00000445645.1, ENST00000538155.5
      Conserved Domains (1) summary
      pfam10221
      Location:26 → 418
      DUF2151; Cell cycle and development regulator

    RNA

    1. XR_007063105.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      26777183..26810389 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372544.1 → XP_054228519.1  integrator complex subunit 13 isoform X6

    2. XM_054372537.1 → XP_054228512.1  integrator complex subunit 13 isoform X1

    3. XM_054372547.1 → XP_054228522.1  integrator complex subunit 13 isoform X8

    4. XM_054372538.1 → XP_054228513.1  integrator complex subunit 13 isoform X2

      UniProtKB/Swiss-Prot
      B4DNK1, Q86WE2, Q96HM2, Q9BTX2, Q9NTB6, Q9NVM5, Q9NVM9

    5. XM_054372549.1 → XP_054228524.1  integrator complex subunit 13 isoform X9

    6. XM_054372541.1 → XP_054228516.1  integrator complex subunit 13 isoform X4

    7. XM_054372548.1 → XP_054228523.1  integrator complex subunit 13 isoform X9

    8. XM_054372540.1 → XP_054228515.1  integrator complex subunit 13 isoform X4

    9. XM_054372539.1 → XP_054228514.1  integrator complex subunit 13 isoform X3

    10. XM_054372546.1 → XP_054228521.1  integrator complex subunit 13 isoform X8

    11. XM_054372543.1 → XP_054228518.1  integrator complex subunit 13 isoform X6

    12. XM_054372545.1 → XP_054228520.1  integrator complex subunit 13 isoform X7

    13. XM_054372542.1 → XP_054228517.1  integrator complex subunit 13 isoform X5

    14. XM_054372536.1 → XP_054228511.1  integrator complex subunit 13 isoform X1

    15. XM_054372550.1 → XP_054228525.1  integrator complex subunit 13 isoform X10

    RNA

    1. XR_008488641.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVM9.2 GenPept UniProtKB/Swiss-Prot:Q9NVM9

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