Q75QN2 · INT8_HUMAN
- ProteinIntegrator complex subunit 8
- GeneINTS8
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids995 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Component of the Integrator 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.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | integrator complex | |
Cellular Component | nucleoplasm | |
Cellular Component | nucleus | |
Biological Process | regulation of transcription elongation by RNA polymerase II | |
Biological Process | snRNA 3'-end processing | |
Biological Process | snRNA processing |
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameIntegrator complex subunit 8
- Short namesInt8
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ75QN2
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (NEDCHS)
- Note
- DescriptionAn autosomal recessive neurodevelopmental disorder characterized by global developmental delay, profound intellectual disability, seizures, absent speech, spasticity, facial and limb dysmorphism, and subtle structural brain abnormalities including cerebellar hypoplasia.
- See alsoMIM:618572
Natural variants in NEDCHS
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_083358 | 298 | D>G | in NEDCHS; occurs in a splice site resulting in altered splicing and probable nonsense-mediated mRNA decay; dbSNP:rs1586479593 | |
VAR_083359 | 973-975 | missing | in NEDCHS; alters the assembly of the Integrator complex |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_083358 | 298 | in NEDCHS; occurs in a splice site resulting in altered splicing and probable nonsense-mediated mRNA decay; dbSNP:rs1586479593 | |||
Sequence: D → G | ||||||
Natural variant | VAR_083359 | 973-975 | in NEDCHS; alters the assembly of the Integrator complex | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 910 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000259553 | 1-995 | UniProt | Integrator complex subunit 8 | |||
Sequence: MSAEAADREAATSSRPCTPPQTCWFEFLLEESLLEKHLRKPCPDPAPVQLIVQFLEQASKPSVNEQNQVQPPPDNKRNRILKLLALKVAAHLKWDLDILEKSLSVPVLNMLLNELLCISKVPPGTKHVDMDLATLPPTTAMAVLLYNRWAIRTIVQSSFPVKQAKPGPPQLSVMNQMQQEKELTENILKVLKEQAADSILVLEAALKLNKDLYVHTMRTLDLLAMEPGMVNGETESSTAGLKVKTEEMQCQVCYDLGAAYFQQGSTNSAVYENAREKFFRTKELIAEIGSLSLHCTIDEKRLAGYCQACDVLVPSSDSTSQQLTPYSQVHICLRSGNYQEVIQIFIEDNLTLSLPVQFRQSVLRELFKKAQQGNEALDEICFKVCACNTVRDILEGRTISVQFNQLFLRPNKEKIDFLLEVCSRSVNLEKASESLKGNMAAFLKNVCLGLEDLQYVFMISSHELFITLLKDEERKLLVDQMRKRSPRVNLCIKPVTSFYDIPASASVNIGQLEHQLILSVDPWRIRQILIELHGMTSERQFWTVSNKWEVPSVYSGVILGIKDNLTRDLVYILMAKGLHCSTVKDFSHAKQLFAACLELVTEFSPKLRQVMLNEMLLLDIHTHEAGTGQAGERPPSDLISRVRGYLEMRLPDIPLRQVIAEECVAFMLNWRENEYLTLQVPAFLLQSNPYVKLGQLLAATCKELPGPKESRRTAKDLWEVVVQICSVSSQHKRGNDGRVSLIKQRESTLGIMYRSELLSFIKKLREPLVLTIILSLFVKLHNVREDIVNDITAEHISIWPSSIPNLQSVDFEAVAITVKELVRYTLSINPNNHSWLIIQADIYFATNQYSAALHYYLQAGAVCSDFFNKAVPPDVYTDQVIKRMIKCCSLLNCHTQVAILCQFLREIDYKTAFKSLQEQNSHDAMDSYYDYIWDVTILEYLTYLHHKRGETDKRQIAIKAIGQTELNASNPEEVLQLAAQRRKKKFLQAMAKLYF | |||||||
Modified residue | 18 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 18 | PRIDE | Phosphothreonine | ||||
Sequence: T |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Developmental stage
Highly expressed in the brain in the ventricular and subventricular zones, caudal and lateral ganglionic eminences and cerebellar primordium at 16-21 postconceptional week.
Gene expression databases
Organism-specific databases
Interaction
Subunit
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.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q75QN2 | INTS5 Q6P9B9 | 4 | EBI-2340089, EBI-7600112 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for repeat.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Repeat | 250-288 | TPR 1 | ||||
Sequence: CQVCYDLGAAYFQQGSTNSAVYENAREKFFRTKELIAEI | ||||||
Repeat | 320-356 | TPR 2 | ||||
Sequence: SQQLTPYSQVHICLRSGNYQEVIQIFIEDNLTLSLPV | ||||||
Repeat | 570-603 | TPR 3 | ||||
Sequence: VYILMAKGLHCSTVKDFSHAKQLFAACLELVTEF | ||||||
Repeat | 833-866 | TPR 4 | ||||
Sequence: HSWLIIQADIYFATNQYSAALHYYLQAGAVCSDF |
Sequence similarities
Belongs to the Integrator subunit 8 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q75QN2-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length995
- Mass (Da)113,088
- Last updated2004-07-05 v1
- Checksum24D06E11821BD4D5
Q75QN2-2
- Name2
- Differences from canonical
- 879-895: Missing
Computationally mapped potential isoform sequences
There are 9 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for sequence conflict, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 778 | in Ref. 5; BAA91238 | ||||
Sequence: V → A | ||||||
Sequence conflict | 832 | in Ref. 4; CAD98067 | ||||
Sequence: N → S | ||||||
Alternative sequence | VSP_021469 | 879-895 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB161944 EMBL· GenBank· DDBJ | BAD10863.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471060 EMBL· GenBank· DDBJ | EAW91726.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC050536 EMBL· GenBank· DDBJ | AAH50536.1 EMBL· GenBank· DDBJ | mRNA | Frameshift | |
BC064915 EMBL· GenBank· DDBJ | AAH64915.1 EMBL· GenBank· DDBJ | mRNA | ||
BC136754 EMBL· GenBank· DDBJ | AAI36755.1 EMBL· GenBank· DDBJ | mRNA | ||
BX538203 EMBL· GenBank· DDBJ | CAD98067.1 EMBL· GenBank· DDBJ | mRNA | ||
AK000537 EMBL· GenBank· DDBJ | BAA91238.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK001403 EMBL· GenBank· DDBJ | BAA91671.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
BK005731 EMBL· GenBank· DDBJ | DAA05731.1 EMBL· GenBank· DDBJ | mRNA |