Seroatlas · Human Serome Atlas

INTS8

Integrator complex subunit 8

Also known as: C8orf52, FLJ20530, INT8, INT8_HUMAN, MGC131633

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q75QN2
Gene: INTS8
Ensembl: ENSG00000164941
Chromosome: 8
Canonical length: 995 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

Canonical amino-acid sequenceUniProt

995 residues, UniProt reviewed canonical sequence.

>Q75QN2|INTS8
     1  MSAEAADREA ATSSRPCTPP QTCWFEFLLE ESLLEKHLRK PCPDPAPVQL IVQFLEQASK
    61  PSVNEQNQVQ PPPDNKRNRI LKLLALKVAA HLKWDLDILE KSLSVPVLNM LLNELLCISK
   121  VPPGTKHVDM DLATLPPTTA MAVLLYNRWA IRTIVQSSFP VKQAKPGPPQ LSVMNQMQQE
   181  KELTENILKV LKEQAADSIL VLEAALKLNK DLYVHTMRTL DLLAMEPGMV NGETESSTAG
   241  LKVKTEEMQC QVCYDLGAAY FQQGSTNSAV YENAREKFFR TKELIAEIGS LSLHCTIDEK
   301  RLAGYCQACD VLVPSSDSTS QQLTPYSQVH ICLRSGNYQE VIQIFIEDNL TLSLPVQFRQ
   361  SVLRELFKKA QQGNEALDEI CFKVCACNTV RDILEGRTIS VQFNQLFLRP NKEKIDFLLE
   421  VCSRSVNLEK ASESLKGNMA AFLKNVCLGL EDLQYVFMIS SHELFITLLK DEERKLLVDQ
   481  MRKRSPRVNL CIKPVTSFYD IPASASVNIG QLEHQLILSV DPWRIRQILI ELHGMTSERQ
   541  FWTVSNKWEV PSVYSGVILG IKDNLTRDLV YILMAKGLHC STVKDFSHAK QLFAACLELV
   601  TEFSPKLRQV MLNEMLLLDI HTHEAGTGQA GERPPSDLIS RVRGYLEMRL PDIPLRQVIA
   661  EECVAFMLNW RENEYLTLQV PAFLLQSNPY VKLGQLLAAT CKELPGPKES RRTAKDLWEV
   721  VVQICSVSSQ HKRGNDGRVS LIKQRESTLG IMYRSELLSF IKKLREPLVL TIILSLFVKL
   781  HNVREDIVND ITAEHISIWP SSIPNLQSVD FEAVAITVKE LVRYTLSINP NNHSWLIIQA
   841  DIYFATNQYS AALHYYLQAG AVCSDFFNKA VPPDVYTDQV IKRMIKCCSL LNCHTQVAIL
   901  CQFLREIDYK TAFKSLQEQN SHDAMDSYYD YIWDVTILEY LTYLHHKRGE TDKRQIAIKA
   961  IGQTELNASN PEEVLQLAAQ RRKKKFLQAM AKLYF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against INTS8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 29 nTPM

Expression across tissuesHPA

Tissue

testis: 29 nTPM
thymus: 19 nTPM
lymph node: 16 nTPM
bone marrow: 15 nTPM
rectum: 14 nTPM
cervix: 14 nTPM

Single-cell type

retinal horizontal cells: 164 nCPM
late primary spermatocytes: 97 nCPM
thyrotrophs: 97 nCPM
neutrophils: 87 nCPM
lactotrophs: 82 nCPM
choroid plexus epithelial cells: 80 nCPM

Immune cell

eosinophil: 15 nTPM
memory B-cell: 13 nTPM
memory CD8 T-cell: 12 nTPM
naive CD4 T-cell: 11 nTPM
memory CD4 T-cell: 11 nTPM
naive B-cell: 10 nTPM

Brain region

cerebellum: 29 nTPM
choroid plexus: 26 nTPM
hypothalamus: 25 nTPM
medulla oblongata: 24 nTPM
white matter: 24 nTPM
cerebral cortex: 24 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about INTS8.

Disease | AllUniProt

Conditions INTS8 is implicated in, by any mechanism.

Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (NEDCHS) MIM:618572

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 178 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with cerebellar hypoplasia and spasticity

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.31
gnomAD pLI: 0.94
gnomAD missense Z: 2.03
DepMap mean gene effect: -1.17
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 19% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Tetratricopeptide-like helical domain superfamily
INTS8
Integrator complex subunit 8, TPR repeats
INTS8, TPR repeats

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of INTS8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads INTS8 as an antibody target. Whether an autoantibody or antibody against INTS8 could matter depends on whether native INTS8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

INTS8 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label INTS8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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