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

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54973
Gene name	Integrator complex subunit 11
Gene symbol	INTS11
Synonyms (NCBI Gene)	CPSF3LCPSF73LINT11NEDMLOBPSF3LRC-68RC68
Chromosome	1
Chromosome location	1p36.33
Summary	The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 18

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004521	Function	RNA endonuclease activity	IBA
GO:0004521	Function	RNA endonuclease activity	IDA	32697989, 33243860, 33548203, 34762484, 37080207, 38570683, 39032489
GO:0004521	Function	RNA endonuclease activity	IEA
GO:0004521	Function	RNA endonuclease activity	IMP	16239144
GO:0005515	Function	Protein binding	IPI	16239144
GO:0005515	Function	Protein binding	IPI	24981860, 28396433, 32296183, 32647223, 33548203, 33686175, 33961781, 36180473
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	29471365, 39032489, 39032490
GO:0005634	Component	Nucleus	IDA	23904267
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	32647223
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	23904267, 29471365
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006366	Process	Transcription by RNA polymerase II	IDA	9852112
GO:0006368	Process	Transcription elongation by RNA polymerase II	IDA	9852112
GO:0016180	Process	SnRNA processing	IBA
GO:0016180	Process	SnRNA processing	IDA	16239144
GO:0016180	Process	SnRNA processing	NAS	16239144
GO:0016787	Function	Hydrolase activity	IEA
GO:0032039	Component	Integrator complex	IDA	16239144, 29471365, 32697989, 33548203, 36920904, 39032489, 39032490
GO:0032039	Component	Integrator complex	IEA
GO:0032039	Component	Integrator complex	NAS	33548203
GO:0034243	Process	Regulation of transcription elongation by RNA polymerase II	NAS	32697989
GO:0034472	Process	SnRNA 3'-end processing	IDA	22252320
GO:0046872	Function	Metal ion binding	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0160232	Component	INTAC complex	IDA	33243860, 34762484, 36869814, 37080207, 38570683
GO:0160240	Process	RNA polymerase II transcription initiation surveillance	IDA	32697989, 33243860, 33385327, 34762484, 37080207, 38570683
GO:0160240	Process	RNA polymerase II transcription initiation surveillance	IEA

MIM	HGNC	e!Ensembl
611354	26052	ENSG00000127054

Q5TA45

Protein name

Integrator complex subunit 11 (Int11) (EC 3.1.27.-) (Cleavage and polyadenylation-specific factor 3-like protein) (CPSF3-like protein) (Protein related to CPSF subunits of 68 kDa) (RC-68)

Protein function

RNA endonuclease component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:16239144, PubMed:25201415, PubMed:28396433, PubMed:32697989, P

PDB

5V8W , 7BFP , 7BFQ , 7CUN , 7PKS , 7YCX , 8R22 , 8R23 , 8R2D , 8RBX , 8RBZ , 8RC4 , 8UIB , 8YJB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16661	Lactamase_B_6	21 → 207	Metallo-beta-lactamase superfamily domain	Domain
PF10996	Beta-Casp	245 → 363	Beta-Casp domain	Domain
PF07521	RMMBL	377 → 438	Zn-dependent metallo-hydrolase RNA specificity domain	Motif

Sequence

MPEIRVTPLGAGQDVGRSCILVSIAGKNVMLDCGMHMGFNDDRRFPDFSYITQNGRLTDF
LDCVIISHFHLDHCGALPYFSEMVGYDGPIYMTHPTQAICPILLEDYRKIAVDKKGEANF
FTSQMIKDCMKKVVAVHLHQTVQVDDELEIKAYYAGHVLGAAMFQIKVGSESVVYTGDYN
MTPDRHLGAAWIDKCRPNLLITESTYATTIRDSKRCRERDFLKKVHETVERGGKVLIPVF
ALGRAQELCILLETFWERMNLKVPIYFSTGLTEKANHYYKLFIPWTNQKIRKTFVQRNMF
EFKHIKAFDRAFADNPGPMVVFATPGMLHAGQSLQIFRKWAGNEKNMVIMPGYCVQGTVG
HKILSGQRKLEMEGRQVLEVKMQVEYMSFSAHADAKGIMQLVGQAEPESVLLVHGEAKKM
EFLKQKIEQELRVNCYMPANGETVTLPTSPSIPVGISLGLLKREMAQGLLPEAKKPRLLH
GTLIMKDSNFRLVSSEQALKELGLAEHQLRFTCRVHLHDTRKEQETALRVYSHLKSVLKD
HCVQHLPDGSVTVESVLLQAAAPSEDPGTKVLLVSWTYQDEELGSFLTSLLKKGLPQAPS

Sequence length

600

Interactions

View interactions

	Reactome
			RNA polymerase II transcribes snRNA genes

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	Pathogenic; Likely pathogenic	rs2522884935, rs2522975919, rs1380311814, rs556125116	RCV003237388 RCV003237389 RCV003237392 RCV004555992	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	23563246	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233, 26192919, 28067908	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30635821	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	23563246	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31037333	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30635821	★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	23563246	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26192919	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

INTS11 (integrator complex subunit 11)