Entity Details

Primary name INT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N201
EntryNameINT1_HUMAN
FullNameIntegrator complex subunit 1
TaxID9606
Evidenceevidence at protein level
Length2190
SequenceStatuscomplete
DateCreated2006-05-16
DateModified2021-06-02

Ontological Relatives

GenesINTS1

GO terms

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GOName
GO:0005654 nucleoplasm
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016180 snRNA processing
GO:0031965 nuclear membrane
GO:0032039 integrator complex
GO:0034474 U2 snRNA 3'-end processing
GO:0042795 snRNA transcription by RNA polymerase II

Subcellular Location

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Subcellular Location
Nucleus membrane

Domains

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DomainNameCategoryType
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR022145 Domain of unknown function DUF3677DomainDomain
IPR038902 Integrator complex subunit 1FamilyFamily

Diseases

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Disease IDSourceNameDescription
618571 OMIMNeurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies (NDCAGF)An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay with motor impairment, cognitive delays, absent or severely limited speech, dysmorphic features, hypotonia and cataracts. The disease is caused by variants affecting the gene represented in this entry.

Interactions

31 interactions

InteractorPartnerSourcesPublicationsLink
INT1_HUMANDEAF1_HUMANHPRD, IntAct16169070 details
INT1_HUMANMTR1B_HUMANBioGRID, IntAct26514267 details
INT1_HUMANCTDP1_HUMANBioGRID16239144 31240132 details
INT1_HUMAN2AAA_HUMANBioGRID, IntAct20133760 26496610 28330616 details
INT1_HUMANPP2AA_HUMANBioGRID, IntAct20133760 26496610 28330616 details
INT1_HUMANINT12_HUMANBioGRID, IntAct20133760 26344197 28514442 details
INT1_HUMANINT2_HUMANBioGRID20133760 26344197 details
INT1_HUMANINT3_HUMANBioGRID20133760 26344197 details
INT1_HUMANINT4_HUMANBioGRID20133760 details
INT1_HUMANINT5_HUMANBioGRID20133760 details
INT1_HUMANINT6_HUMANBioGRID20133760 details
INT1_HUMANINT6L_HUMANBioGRID20133760 details
INT1_HUMANINT7_HUMANBioGRID20133760 26344197 details
INT1_HUMANINT8_HUMANBioGRID20133760 details
INT1_HUMANINT9_HUMANBioGRID20133760 details
INT1_HUMANINT10_HUMANBioGRID16239144 20133760 details
INT1_HUMANINT11_HUMANBioGRID20133760 details
INT1_HUMANRPB1_HUMANBioGRID20133760 details
INT1_HUMANRPB2_HUMANBioGRID20133760 details
INT1_HUMANRPAB3_HUMANBioGRID20133760 details
INT1_HUMAN2AAB_HUMANBioGRID20133760 details
INT1_HUMANPP1B_HUMANBioGRID20133760 details
INT1_HUMANPP2AB_HUMANBioGRID20133760 26496610 details
INT1_HUMANINT13_HUMANBioGRID20133760 26344197 details
INT1_HUMANINT14_HUMANBioGRID20133760 26496610 details
INT1_HUMANCG026_HUMANBioGRID20133760 details
INT1_HUMANSOSB1_HUMANBioGRID20133760 details
INT1_HUMANPKCB1_HUMANBioGRID20133760 details
INT1_HUMANZN687_HUMANBioGRID20133760 details
INT1_HUMANSPT5H_HUMANBioGRID29395067 details
INT1_HUMANIF4A3_HUMANBioGRID29395067 details