INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] See more...

Aliases for INTS1 Gene

Aliases for INTS1 Gene

  • Integrator Complex Subunit 1 2 3 4 5
  • KIAA1440 4
  • NDCAGF 3
  • NET28 3
  • INT1 3
  • Int1 4

External Ids for INTS1 Gene

Previous GeneCards Identifiers for INTS1 Gene

  • GC07M001477
  • GC07M001509

Summaries for INTS1 Gene

Entrez Gene Summary for INTS1 Gene

  • INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

GeneCards Summary for INTS1 Gene

INTS1 (Integrator Complex Subunit 1) is a Protein Coding gene. Diseases associated with INTS1 include Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies. Among its related pathways are Gene Expression and Formation of HIV-1 elongation complex containing HIV-1 Tat. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot Summary for INTS1 Gene

  • Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267).

Additional gene information for INTS1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for INTS1 Gene

Genomics for INTS1 Gene

GeneHancer (GH) Regulatory Elements for INTS1 Gene

Promoters and enhancers for INTS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INTS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for INTS1

Top Transcription factor binding sites by QIAGEN in the INTS1 gene promoter:
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GR
  • GR-alpha

Genomic Locations for INTS1 Gene

Genomic Locations for INTS1 Gene
chr7:1,470,277-1,504,389
(GRCh38/hg38)
Size:
34,113 bases
Orientation:
Minus strand
chr7:1,509,913-1,545,489
(GRCh37/hg19)
Size:
35,577 bases
Orientation:
Minus strand

Genomic View for INTS1 Gene

Genes around INTS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INTS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INTS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INTS1 Gene

Proteins for INTS1 Gene

  • Protein details for INTS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N201-INT1_HUMAN
    Recommended name:
    Integrator complex subunit 1
    Protein Accession:
    Q8N201
    Secondary Accessions:
    • A6NJ44
    • Q6NT70
    • Q6UX74
    • Q8WV40
    • Q96D36
    • Q9NTD1
    • Q9P2A8
    • Q9Y3W8

    Protein attributes for INTS1 Gene

    Size:
    2190 amino acids
    Molecular mass:
    244297 Da
    Quaternary structure:
    • Belongs to the multiprotein complex Integrator, at least composed of INTS1, INTS2, INTS3, INTS4, INTS5, INTS6, INTS7, INTS8, INTS9/RC74, INTS10, INTS11/CPSF3L and INTS12 (PubMed:16239144). Interacts with ESRRB, ESRRB is probably not a core component of the multiprotein complex Integrator and this association is a bridge for the interaction with the multiprotein complex Integrator; attracts the transcriptional machinery (By similarity).
    SequenceCaution:
    • Sequence=AAQ88846.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for INTS1 Gene

Post-translational modifications for INTS1 Gene

  • Ubiquitination at Lys1868
  • Modification sites at PhosphoSitePlus

Other Protein References for INTS1 Gene

No data available for DME Specific Peptides for INTS1 Gene

Domains & Families for INTS1 Gene

Gene Families for INTS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for INTS1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for INTS1 Gene

GenScript: Design optimal peptide antigens:
  • Integrator complex subunit 1 (INT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N201

UniProtKB/Swiss-Prot:

INT1_HUMAN :
  • Belongs to the Integrator subunit 1 family.
Family:
  • Belongs to the Integrator subunit 1 family.
genes like me logo Genes that share domains with INTS1: view

Function for INTS1 Gene

Molecular function for INTS1 Gene

UniProtKB/Swiss-Prot Function:
Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267).

Phenotypes From GWAS Catalog for INTS1 Gene

genes like me logo Genes that share phenotypes with INTS1: view

Animal Models for INTS1 Gene

MGI Knock Outs for INTS1:

Animal Model Products

  • Taconic Biosciences Mouse Models for INTS1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for INTS1 Gene

Localization for INTS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for INTS1 Gene

Nucleus membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for INTS1 gene
Compartment Confidence
nucleus 5
plasma membrane 3
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for INTS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0031965 nuclear membrane IEA --
GO:0032039 integrator complex IEA,IDA 16239144
genes like me logo Genes that share ontologies with INTS1: view

Pathways & Interactions for INTS1 Gene

genes like me logo Genes that share pathways with INTS1: view

Pathways by source for INTS1 Gene

2 Reactome pathways for INTS1 Gene

Gene Ontology (GO) - Biological Process for INTS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016180 snRNA processing IDA 16239144
GO:0034474 U2 snRNA 3'-end processing IBA,IEA 21873635
GO:0042795 snRNA transcription by RNA polymerase II TAS --
genes like me logo Genes that share ontologies with INTS1: view

No data available for SIGNOR curated interactions for INTS1 Gene

Drugs & Compounds for INTS1 Gene

No Compound Related Data Available

Transcripts for INTS1 Gene

mRNA/cDNA for INTS1 Gene

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for INTS1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: -
SP2: - - -
SP3:
SP4:
SP5:
SP6:

ExUns: 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b · 27c ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b · 32c
SP1: - - -
SP2: - - -
SP3:
SP4: -
SP5:
SP6:

Relevant External Links for INTS1 Gene

GeneLoc Exon Structure for
INTS1

Expression for INTS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for INTS1 Gene

Protein differential expression in normal tissues from HIPED for INTS1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.2), Serum (8.5), and Bone (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for INTS1 Gene



Protein tissue co-expression partners for INTS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for INTS1

SOURCE GeneReport for Unigene cluster for INTS1 Gene:

Hs.532188

Evidence on tissue expression from TISSUES for INTS1 Gene

  • Nervous system(4.8)
  • Skin(4.4)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with INTS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for INTS1 Gene

Orthologs for INTS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for INTS1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia INTS1 31 30
  • 86.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia INTS1 31 30
  • 86.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ints1 17 31 30
  • 84.99 (n)
rat
(Rattus norvegicus)
Mammalia Ints1 30
  • 84.59 (n)
oppossum
(Monodelphis domestica)
Mammalia INTS1 31
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INTS1 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves INTS1 31 30
  • 76.75 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia INTS1 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ints1 30
  • 71.33 (n)
Str.9190 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.3103 30
zebrafish
(Danio rerio)
Actinopterygii ints1 31 30
  • 71.27 (n)
OneToOne
wufa55a06 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12772 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008047 30
  • 51.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta IntS1 31 30
  • 50.41 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C06A5.1 31
  • 18 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToOne
Species where no ortholog for INTS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for INTS1 Gene

ENSEMBL:
Gene Tree for INTS1 (if available)
TreeFam:
Gene Tree for INTS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for INTS1: view image

Paralogs for INTS1 Gene

(2) SIMAP similar genes for INTS1 Gene using alignment to 2 proteins:

  • INT1_HUMAN
  • H7C582_HUMAN
genes like me logo Genes that share paralogs with INTS1: view

No data available for Paralogs for INTS1 Gene

Variants for INTS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for INTS1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
641028 Uncertain Significance: not provided 1,478,872(-) T/C MISSENSE_VARIANT
643062 Uncertain Significance: not provided 1,470,922(-) G/C NONSENSE
689520 Pathogenic: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES 1,476,256(-) G/T NONSENSE
689521 Pathogenic: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES 1,503,021(-) G/A MISSENSE_VARIANT
689522 Pathogenic: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES 1,476,051(-) C/CG FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for INTS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for INTS1 Gene

Variant ID Type Subtype PubMed ID
dgv11135n54 CNV loss 21841781
esv1005556 CNV insertion 20482838
esv1010068 CNV insertion 20482838
esv1688140 CNV insertion 17803354
esv2733764 CNV deletion 23290073
esv2733765 CNV deletion 23290073
esv2733766 CNV deletion 23290073
esv2733767 CNV deletion 23290073
esv2733768 CNV deletion 23290073
esv2759499 CNV loss 17122850
esv3326856 CNV insertion 20981092
esv3368822 CNV insertion 20981092
esv3398332 CNV insertion 20981092
esv3891009 CNV loss 25118596
nsv1017606 CNV loss 25217958
nsv366643 CNV insertion 16902084
nsv464247 CNV loss 19166990
nsv471182 CNV loss 18288195
nsv521100 CNV loss 19592680
nsv605818 CNV loss 21841781
nsv8029 CNV gain+loss 18304495
nsv823970 CNV gain 20364138
nsv830878 CNV loss 17160897
nsv830879 CNV gain+loss 17160897
nsv830880 CNV loss 17160897
nsv950786 CNV deletion 24416366

Variation tolerance for INTS1 Gene

Residual Variation Intolerance Score: 6.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.29; 62.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INTS1 Gene

Human Gene Mutation Database (HGMD)
INTS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
INTS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INTS1 Gene

Disorders for INTS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for INTS1 Gene - From: OMIM, ClinVar, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search INTS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for INTS1

genes like me logo Genes that share disorders with INTS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for INTS1 Gene

Publications for INTS1 Gene

  1. Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II. (PMID: 16239144) Baillat D … Shiekhattar R (Cell 2005) 2 3 4 54
  2. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C … Lander ES (Nature 2006) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 54
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 54

Products for INTS1 Gene

Sources for INTS1 Gene