Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	26173
Gene name Gene Name - the full gene name approved by the HGNC.	Integrator complex subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	INTS1
Synonyms (NCBI Gene) Gene synonyms aliases	INT1, NDCAGF, NET28
Disease Acronyms (UniProt) Disease acronyms from UniProt database	NDCAGF
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p22.3
Summary Summary of gene provided in NCBI Entrez 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) (Ba

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200649090	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs770569947	T>G	Likely-pathogenic	Splice acceptor variant
rs1030646527	T>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1162809128	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1284335313	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1286686353	G>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1357982637	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1562487424	->G	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant

Show/Hide all(20)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052201	hsa-let-7b-5p	CLASH	23622248
MIRT039713	hsa-miR-615-3p	CLASH	23622248
MIRT039713	hsa-miR-615-3p	CLASH	23622248
MIRT039214	hsa-miR-769-5p	CLASH	23622248
MIRT039110	hsa-miR-769-3p	CLASH	23622248
MIRT037241	hsa-miR-877-5p	CLASH	23622248
MIRT440446	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440446	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1067906	hsa-miR-3191	CLIP-seq
MIRT1067907	hsa-miR-3917	CLIP-seq
MIRT1067908	hsa-miR-4532	CLIP-seq
MIRT1067909	hsa-miR-4707-5p	CLIP-seq
MIRT1067910	hsa-miR-634	CLIP-seq
MIRT1067907	hsa-miR-3917	CLIP-seq
MIRT1067910	hsa-miR-634	CLIP-seq
MIRT2451891	hsa-miR-1203	CLIP-seq
MIRT2451892	hsa-miR-1538	CLIP-seq
MIRT2451893	hsa-miR-1915	CLIP-seq
MIRT2451894	hsa-miR-4685-5p	CLIP-seq
MIRT2451895	hsa-miR-4745-3p	CLIP-seq

Show/Hide all(9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005654	Component	Nucleoplasm	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0016180	Process	SnRNA processing	IDA	16239144
GO:0031965	Component	Nuclear membrane	IEA
GO:0032039	Component	Integrator complex	IBA	21873635
GO:0032039	Component	Integrator complex	IDA	16239144
GO:0034474	Process	U2 snRNA 3'-end processing	IBA	21873635
GO:0042795	Process	SnRNA transcription by RNA polymerase II	TAS

MIM	HGNC	e!Ensembl
611345	24555	ENSG00000164880

Protein

UniProt ID

Q8N201

Protein name

Integrator complex subunit 1 (Int1)

Protein function

Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:25201415, PubMed:33243860, PubMed:38570683). The integrator complex provides a

PDB

7CUN , 7PKS , 7YCX , 8RBX , 8RBZ , 8RC4 , 8YJB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12432	DUF3677	350 → 430	Protein of unknown function (DUF3677)	Family

Sequence

MNRAKPTTVRRPSAAAKPSGHPPPGDFIALGSKGQANESKTASTLLKPAPSGLPSERKRD
AAAALSSASALTGLTKRPKLSSTPPLSALGRLAEAAVAEKRAISPSIKEPSVVPIEVLPT
VLLDEIEAAELEGNDDRIEGVLCGAVKQLKVTRAKPDSTLYLSLMYLAKIKPNIFATEGV
IEALCSLLRRDASINFKAKGNSLVSVLACNLLMAAYEEDENWPEIFVKVYIEDSLGERIW
VDSPHCKTFVDNIQTAFNTRMPPRSVLLQGEAGRVAGDLGAGSSPHPSLTEEEDSQTELL
IAEEKLSPEQEGQLMPRYEELAESVEEYVLDMLRDQLNRRQPIDNVSRNLLRLLTSTCGY
KEVRLLAVQKLEMWLQNPKLTRPAQDLLMSVCMNCNTHGSEDMDVISHLIKIRLKPKVLL
NHFMLCIRELLSAHKDNLGTTIKLVIFNELSSARNPNNMQVLYTALQHSSELAPKFLAMV
FQDLLTNKDDYLRASRALLREIIKQTKHEINFQAFCLGLMQERKEPQYLEMEFKERFVVH
ITDVLAVSMMLGITAQVKEAGIAWDKGEKRNLEVLRSFQNQIAAIQRDAVWWLHTVVPSI
SKLAPKDYVHCLHKVLFTEQPETYYKWDNWPPESDRNFFLRLCSEVPILEDTLMRILVIG
LSRELPLGPADAMELADHLVKRAAAVQADDVEVLKVGRTQLIDAVLNLCTYHHPENIQLP
PGYQPPNLAISTLYWKAWPLLLVVAAFNPENIGLAAWEEYPTLKMLMEMVMTNNYSYPPC
TLTDEETRTEMLNRELQTAQREKQEILAFEGHLAAASTKQTITESSSLLLSQLTSLDPQG
PPRRPPPHILDQVKSLNQSLRLGHLLCRSRNPDFLLHIIQRQASSQSMPWLADLVQSSEG
SLDVLPVQCLCEFLLHDAVDDAASGEEDDEGESKEQKAKKRQRQQKQRQLLGRLQDLLLG
PKADEQTTCEVLDYFLRRLGSSQVASRVLAMKGLSLVLSEGSLRDGEEKEPPMEEDVGDT
DVLQGYQWLLRDLPRLPLFDSVRSTTALALQQAIHMETDPQTISAYLIYLSQHTPVEEQA
QHSDLALDVARLVVERSTIMSHLFSKLSPSAASDAVLSALLSIFSRYVRRMRQSKEGEEV
YSWSESQDQVFLRWSSGETATMHILVVHAMVILLTLGPPRADDSEFQALLDIWFPEEKPL
PTAFLVDTSEEALLLPDWLKLRMIRSEVLRLVDAALQDLEPQQLLLFVQSFGIPVSSMSK
LLQFLDQAVAHDPQTLEQNIMDKNYMAHLVEVQHERGASGGQTFHSLLTASLPPRRDSTE
APKPKSSPEQPIGQGRIRVGTQLRVLGPEDDLAGMFLQIFPLSPDPRWQSSSPRPVALAL
QQALGQELARVVQGSPEVPGITVRVLQALATLLSSPHGGALVMSMHRSHFLACPLLRQLC
QYQRCVPQDTGFSSLFLKVLLQMLQWLDSPGVEGGPLRAQLRMLASQASAGRRLSDVRGG
LLRLAEALAFRQDLEVVSSTVRAVIATLRSGEQCSVEPDLISKVLQGLIEVRSPHLEELL
TAFFSATADAASPFPACKPVVVVSSLLLQEEEPLAGGKPGADGGSLEAVRLGPSSGLLVD
WLEMLDPEVVSSCPDLQLRLLFSRRKGKGQAQVPSFRPYLLTLFTHQSSWPTLHQCIRVL
LGKSREQRFDPSASLDFLWACIHVPRIWQGRDQRTPQKRREELVLRVQGPELISLVELIL
AEAETRSQDGDTAACSLIQARLPLLLSCCCGDDESVRKVTEHLSGCIQQWGDSVLGRRCR
DLLLQLYLQRPELRVPVPEVLLHSEGAASSSVCKLDGLIHRFITLLADTSDSRALENRGA
DASMACRKLAVAHPLLLLRHLPMIAALLHGRTHLNFQEFRQQNHLSCFLHVLGLLELLQP
HVFRSEHQGALWDCLLSFIRLLLNYRKSSRHLAAFINKFVQFIHKYITYNAPAAISFLQK
HADPLHDLSFDNSDLVMLKSLLAGLSLPSRDDRTDRGLDEEGEEESSAGSLPLVSVSLFT
PLTAAEMAPYMKRLSRGQTVEDLLEVLSDIDEMSRRRPEILSFFSTNLQRLMSSAEECCR
NLAFSLALRSMQNSPSIAAAFLPTFMYCLGSQDFEVVQTALRNLPEYALLCQEHAAVLLH
RAFLVGMYGQMDPSAQISEALRILHMEAVM

Sequence length

2190

Interactions

View interactions

	Reactome
			RNA polymerase II transcribes snRNA genes

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)	17544522
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	17544522

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenomyosis	Associate	40527793
Glomerulonephritis	Associate	40629603
Leukemia Large Granular Lymphocytic	Associate	40629603
Mesothelioma Malignant	Associate	34294080
Neoplasms	Associate	24241165
Stomach Neoplasms	Associate	34925643

INTS1 (integrator complex subunit 1)