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    INTS1 integrator complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 26173, updated on 18-Nov-2024

    Summary

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    Official Symbol
    INTS1provided by HGNC
    Official Full Name
    integrator complex subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:24555
    See related
    Ensembl:ENSG00000164880 MIM:611345; AllianceGenome:HGNC:24555
    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
    INT1; NET28; NDCAGF
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 20.1), kidney (RPKM 10.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See INTS1 in Genome Data Viewer
    Location:
    7p22.3
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (1470277..1504389, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (1582409..1619912, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (1509913..1544025, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene MICAL like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1486489-1486993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1491449-1492000 Neighboring gene Sharpr-MPRA regulatory region 3173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1497060-1497782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1497783-1498505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17852 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1499929-1500480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1500481-1501032 Neighboring gene MICALL2 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1505291-1505986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1505987-1506682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1509467-1510162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1533403-1533903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1545117-1545713 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1545714-1546309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25492 Neighboring gene INTS1-MAFK intergenic CAGE-defined mid-level expression enhancer Neighboring gene uncharacterized LOC124901572 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1563055-1563777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17857 Neighboring gene uncharacterized LOC100128653 Neighboring gene Sharpr-MPRA regulatory region 13805 Neighboring gene MAF bZIP transcription factor K

    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 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. Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings. Zhang X, et al. J Mol Neurosci, 2020 Jan. PMID 31428919
    2. A deleterious variant of INTS1 leads to disrupted sleep-wake cycles. Confino S, et al. Dis Model Mech, 2024 Aug 1. PMID 39189071, Free PMC Article
    3. Human mutations in integrator complex subunits link transcriptome integrity to brain development. Oegema R, et al. PLoS Genet, 2017 May. PMID 28542170, Free PMC Article
    4. A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing. Jiang X, et al. Ophthalmic Genet, 2020 Jun. PMID 32367751
    5. Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. Krall M, et al. Eur J Hum Genet, 2019 Apr. PMID 30622326, Free PMC Article

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A deleterious variant of INTS1 leads to disrupted sleep-wake cycles.
      Title: A deleterious variant of INTS1 leads to disrupted sleep-wake cycles.
    2. A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing.
      Title: A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing.
    3. Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings.
      Title: Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings.
    4. The distinctive phenotype associated with biallelic variants in INTS1 points to dysfunction of the integrator complex as a mechanism for intellectual disability, eye defects and craniofacial anomalies
      Title: Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.
    5. Mutations in INTS1 cause a severe neurodevelopmental syndrome.
      Title: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
    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

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
    MedGen: C5231414 OMIM: 618571 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • FLJ46624, KIAA1440, DKFZp586J0619

    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 U2 snRNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in embryo implantation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inner cell mass cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription elongation by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in snRNA processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in snRNA processing NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of integrator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of integrator complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of integrator complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    integrator complex subunit 1

    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_001080453.3 → NP_001073922.2  integrator complex subunit 1

      See identical proteins and their annotated locations for NP_001073922.2

      Status: VALIDATED

      Source sequence(s)
      AB037861, AC093734, AI935093, BC069262, BF346658, BM547069, BM553299, BX324321, DB113520
      Consensus CDS
      CCDS47526.1
      UniProtKB/Swiss-Prot
      A6NJ44, Q6NT70, Q6UX74, Q8N201, Q8WV40, Q96D36, Q9NTD1, Q9P2A8, Q9Y3W8
      UniProtKB/TrEMBL
      A4D212
      Related
      ENSP00000385722.3, ENST00000404767.8
      Conserved Domains (1) summary
      pfam12432
      Location:350 → 430
      DUF3677; Protein of unknown function (DUF3677)

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      1470277..1504389 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515260.2 → XP_011513562.1  integrator complex subunit 1 isoform X1

      UniProtKB/TrEMBL
      A4D212
      Conserved Domains (1) summary
      pfam12432
      Location:350 → 430
      DUF3677; Protein of unknown function (DUF3677)

    2. XM_011515262.3 → XP_011513564.1  integrator complex subunit 1 isoform X2

      Conserved Domains (1) summary
      pfam12432
      Location:350 → 430
      DUF3677; Protein of unknown function (DUF3677)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      1582409..1619912 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357857.1 → XP_054213832.1  integrator complex subunit 1 isoform X3

      UniProtKB/Swiss-Prot
      A6NJ44, Q6NT70, Q6UX74, Q8N201, Q8WV40, Q96D36, Q9NTD1, Q9P2A8, Q9Y3W8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N201.2 GenPept UniProtKB/Swiss-Prot:Q8N201

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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