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

Summary

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

Location:: 7p22.3

Exon count:: 48

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (1470277..1504389, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (1582409..1619912, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (1509913..1544025, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Mutations in INTS1 cause a severe neurodevelopmental syndrome.
Title: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-77811 (e-PCR)
- UniSTS:101020

STS-W93022 (e-PCR)
- UniSTS:40605

Gene Ontology Provided by GOA

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 more info	PubMed
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement 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 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)

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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

1470277..1504389 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)