INTS1 - integrator complex subunit 1 Gene

Also Known as INT1; NET28; NDCAGF

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26173

About INTS1

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:1,470,277-1,504,389 (from NCBI)

This gene has 8 transcripts (splice variants), 196 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 20.1), kidney (RPKM 10.8) and 25 other tissues.

Summary

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]

INTS1 Products (1)

mRNA Protein Name
NM_001080453.3 NP_001073922.2 integrator complex subunit 1
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in snRNA processing IDA
IDA: Inferred from direct assay
16239144 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of integrator complex IDA
IDA: Inferred from direct assay
16239144 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

INTS1 Protein Structure

DUF3677

DUF3677: Protein of unknown function (DUF3677) (350 - 430)

  • 0
  • 400
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  • 1600
  • 2000
  • 2190 a.a.
Protein Preferred Names Protein Names

integrator complex subunit 1

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
  • NDCAGF

Meier-Gorlin Syndrome 4
  • MGORS4

  • Meier-Gorlin Syndrome, Type 4

Microcephalic Osteodysplastic Primordial Dwarfism, Type I
  • Taybi-Linder Syndrome

  • Brachymelic Primordial Dwarfism

  • Cephaloskeletal Dysplasia

  • Low-Birth-Weight Dwarfism With Skeletal Dysplasia

  • Microcephalic Osteodysplastic Primordial Dwarfism Type I

  • Osteodysplastic Primordial Dwarfism Type I

  • Primordial Microcephalic Dwarfism, Crachami Type

  • Osteodysplastic Primordial Dwarfism, Type 1

  • MOPD1

  • Mopd I

  • Mopd

  • Osteodysplastic Primordial Dwarfism, Type I

  • Tals

  • Microcephalic Osteodysplastic Primordial Dwarfism Type 1

  • Mopd 1

  • Microcephalic Osteodysplastic Primordial Dwarfism Types 1 And 3

  • Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii

  • Mopd Types I And Iii

  • Microcephalic Osteodysplastic Primordial Dwarfism, Taybi-Linder Type

  • Primordial Microcephalic Dwarfism Crachami Type

  • Dwarfism, Primordial, Osteodysplastic, Microcephalic, Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus INTS1 RGD RGD:1308908
Bos taurus INTS1 VGNC VGNC:30223
Felis catus INTS1 VGNC VGNC:62937
Canis familiaris INTS1 VGNC VGNC:42045
Macaca mulatta INTS1 VGNC VGNC:81336
Mus musculus INTS1 MGD MGI:1915760