Seroatlas · Human Serome Atlas

INTS1

Integrator complex subunit 1

Also known as: DKFZp586J0619, INT1, INT1_HUMAN, KIAA1440, NET28

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

Protein identityUniProt · HPA

UniProt accession: Q8N201
Gene: INTS1
Ensembl: ENSG00000164880
Chromosome: 7
Canonical length: 2190 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm

OverviewNCBI 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) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

2190 residues, UniProt reviewed canonical sequence.

>Q8N201|INTS1
     1  MNRAKPTTVR RPSAAAKPSG HPPPGDFIAL GSKGQANESK TASTLLKPAP SGLPSERKRD
    61  AAAALSSASA LTGLTKRPKL SSTPPLSALG RLAEAAVAEK RAISPSIKEP SVVPIEVLPT
   121  VLLDEIEAAE LEGNDDRIEG VLCGAVKQLK VTRAKPDSTL YLSLMYLAKI KPNIFATEGV
   181  IEALCSLLRR DASINFKAKG NSLVSVLACN LLMAAYEEDE NWPEIFVKVY IEDSLGERIW
   241  VDSPHCKTFV DNIQTAFNTR MPPRSVLLQG EAGRVAGDLG AGSSPHPSLT EEEDSQTELL
   301  IAEEKLSPEQ EGQLMPRYEE LAESVEEYVL DMLRDQLNRR QPIDNVSRNL LRLLTSTCGY
   361  KEVRLLAVQK LEMWLQNPKL TRPAQDLLMS VCMNCNTHGS EDMDVISHLI KIRLKPKVLL
   421  NHFMLCIREL LSAHKDNLGT TIKLVIFNEL SSARNPNNMQ VLYTALQHSS ELAPKFLAMV
   481  FQDLLTNKDD YLRASRALLR EIIKQTKHEI NFQAFCLGLM QERKEPQYLE MEFKERFVVH
   541  ITDVLAVSMM LGITAQVKEA GIAWDKGEKR NLEVLRSFQN QIAAIQRDAV WWLHTVVPSI
   601  SKLAPKDYVH CLHKVLFTEQ PETYYKWDNW PPESDRNFFL RLCSEVPILE DTLMRILVIG
   661  LSRELPLGPA DAMELADHLV KRAAAVQADD VEVLKVGRTQ LIDAVLNLCT YHHPENIQLP
   721  PGYQPPNLAI STLYWKAWPL LLVVAAFNPE NIGLAAWEEY PTLKMLMEMV MTNNYSYPPC
   781  TLTDEETRTE MLNRELQTAQ REKQEILAFE GHLAAASTKQ TITESSSLLL SQLTSLDPQG
   841  PPRRPPPHIL DQVKSLNQSL RLGHLLCRSR NPDFLLHIIQ RQASSQSMPW LADLVQSSEG
   901  SLDVLPVQCL CEFLLHDAVD DAASGEEDDE GESKEQKAKK RQRQQKQRQL LGRLQDLLLG
   961  PKADEQTTCE VLDYFLRRLG SSQVASRVLA MKGLSLVLSE GSLRDGEEKE PPMEEDVGDT
  1021  DVLQGYQWLL RDLPRLPLFD SVRSTTALAL QQAIHMETDP QTISAYLIYL SQHTPVEEQA
  1081  QHSDLALDVA RLVVERSTIM SHLFSKLSPS AASDAVLSAL LSIFSRYVRR MRQSKEGEEV
  1141  YSWSESQDQV FLRWSSGETA TMHILVVHAM VILLTLGPPR ADDSEFQALL DIWFPEEKPL
  1201  PTAFLVDTSE EALLLPDWLK LRMIRSEVLR LVDAALQDLE PQQLLLFVQS FGIPVSSMSK
  1261  LLQFLDQAVA HDPQTLEQNI MDKNYMAHLV EVQHERGASG GQTFHSLLTA SLPPRRDSTE
  1321  APKPKSSPEQ PIGQGRIRVG TQLRVLGPED DLAGMFLQIF PLSPDPRWQS SSPRPVALAL
  1381  QQALGQELAR VVQGSPEVPG ITVRVLQALA TLLSSPHGGA LVMSMHRSHF LACPLLRQLC
  1441  QYQRCVPQDT GFSSLFLKVL LQMLQWLDSP GVEGGPLRAQ LRMLASQASA GRRLSDVRGG
  1501  LLRLAEALAF RQDLEVVSST VRAVIATLRS GEQCSVEPDL ISKVLQGLIE VRSPHLEELL
  1561  TAFFSATADA ASPFPACKPV VVVSSLLLQE EEPLAGGKPG ADGGSLEAVR LGPSSGLLVD
  1621  WLEMLDPEVV SSCPDLQLRL LFSRRKGKGQ AQVPSFRPYL LTLFTHQSSW PTLHQCIRVL
  1681  LGKSREQRFD PSASLDFLWA CIHVPRIWQG RDQRTPQKRR EELVLRVQGP ELISLVELIL
  1741  AEAETRSQDG DTAACSLIQA RLPLLLSCCC GDDESVRKVT EHLSGCIQQW GDSVLGRRCR
  1801  DLLLQLYLQR PELRVPVPEV LLHSEGAASS SVCKLDGLIH RFITLLADTS DSRALENRGA
  1861  DASMACRKLA VAHPLLLLRH LPMIAALLHG RTHLNFQEFR QQNHLSCFLH VLGLLELLQP
  1921  HVFRSEHQGA LWDCLLSFIR LLLNYRKSSR HLAAFINKFV QFIHKYITYN APAAISFLQK
  1981  HADPLHDLSF DNSDLVMLKS LLAGLSLPSR DDRTDRGLDE EGEEESSAGS LPLVSVSLFT
  2041  PLTAAEMAPY MKRLSRGQTV EDLLEVLSDI DEMSRRRPEI LSFFSTNLQR LMSSAEECCR
  2101  NLAFSLALRS MQNSPSIAAA FLPTFMYCLG SQDFEVVQTA LRNLPEYALL CQEHAAVLLH
  2161  RAFLVGMYGQ MDPSAQISEA LRILHMEAVM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against INTS1 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: 1
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 53 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 53 nTPM
testis: 45 nTPM
cerebellum: 39 nTPM
cerebral cortex: 32 nTPM
pancreas: 30 nTPM
ovary: 27 nTPM

Single-cell type

late spermatids: 61 nCPM
proximal tubule cells: 47 nCPM
retinal horizontal cells: 46 nCPM
neutrophil progenitors: 43 nCPM
colonocytes: 40 nCPM
brain excitatory neurons: 39 nCPM

Immune cell

naive B-cell: 2.7 nTPM
basophil: 2 nTPM
gdT-cell: 1.5 nTPM
T-reg: 1.5 nTPM
memory CD8 T-cell: 1.2 nTPM
myeloid DC: 1.2 nTPM

Brain region

cerebral cortex: 70 nTPM
medulla oblongata: 66 nTPM
amygdala: 65 nTPM
hippocampal formation: 64 nTPM
thalamus: 59 nTPM
white matter: 58 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about INTS1.

Disease | AllUniProt

Conditions INTS1 is implicated in, by any mechanism.

Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies (NDCAGF) MIM:618571

Disease | GeneticClinVar

24 pathogenic / likely-pathogenic of 806 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Inborn genetic diseases
Neurodevelopmental delay
See cases
Malignant tumor of esophagus

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): 0.48
gnomAD pLI: 0
gnomAD missense Z: 1.41
DepMap mean gene effect: -0.86
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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

Armadillo-type fold
Integrator complex subunit 1, RPB2-binding domain
Integrator complex subunit 1
Integrator complex subunit 1, R3 domain
Integrator complex subunit 1, R4 domain
Integrator complex subunit 1, INTS2-binding domain
Integrator complex subunit 1, RP2B-binding domain
Integrator complex subunit 1, R3 domain
Integrator complex subunit 1, R4 domain
Integrator complex subunit 1, INTS2-binding domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of INTS1 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 INTS1 as an antibody target. Whether an autoantibody or antibody against INTS1 could matter depends on whether native INTS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

INTS1 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 INTS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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