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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
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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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