SKOR1 - SKI family transcriptional corepressor 1 Gene

Also Known as CORL1; LBXCOR1; FUSSEL15

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 390598

About SKOR1

Cytogenetic location: 15q23 Genomic coordinates (GRCh38): 15:67,825,509-67,834,582 (from NCBI)

This gene has 4 transcripts (splice variants), 246 orthologues and 3 paralogues. Low expression observed in reference dataset.

Summary

Enables SMAD binding activity and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of BMP signaling pathway. Located in dendrite and neuronal cell body. [provided by Alliance of Genome Resources, Apr 2022]

SKOR1 Products (1)

mRNA Protein Name
NM_001365915.1 NP_001352844.1 SKI family transcriptional corepressor 1
Molecular Function GO Annotation Evidence References Source
enables SMAD binding IPI
IPI: Inferred from physical interaction
17292623 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of BMP signaling pathway IDA
IDA: Inferred from direct assay
17292623 GOA
Cellular Component GO Annotation Evidence References Source
located in dendrite IDA
IDA: Inferred from direct assay
17292623 GOA
located in neuronal cell body IDA
IDA: Inferred from direct assay
17292623 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

SKOR1 Protein Structure

Ski_Sno

Ski_Sno: SKI/SNO/DAC family (57 - 168)

c-SKI_SMAD_bind

c-SKI_SMAD_bind: c-SKI Smad4 binding domain (180 - 272)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 965 a.a.
Protein Preferred Names Protein Names

SKI family transcriptional corepressor 1

  • LBX1 corepressor 1

Related Diseases

Diseases Alias
Restless Legs Syndrome
  • Wed

  • Willis-Ekbom Disease

  • Restless Leg Syndrome

  • Ekbom Syndrome

  • Wittmaack-Ekbom Syndrome

  • Willis Ekbom Disease

  • Ekbom'S Syndrome

  • Rls

  • Restless Legs

  • Restless Legs Syndrome, Susceptibility To

Periodic Limb Movement Disorder
  • Nocturnal Myoclonus Syndrome

  • Nocturnal Myoclonus

Osgood-Schlatter'S Disease
  • Osgood-Schlatter Disease

  • Juvenile Osteochondrosis Of Tibial Tubercle

  • Osteochondrosis

  • Osteochondritis Of Tibial Tubercle

  • Osteochondrosis Of Proximal Tibia

  • Aseptic Necrosis Of The Tibial Tubercle

  • Osteochondrosis Of The Tibial Tubercle

  • Osteochondritis Juvenilis

Essential Tremor
  • Benign Essential Tremor

  • Familial Tremor

  • Hereditary Essential Tremor

  • Essential Hereditary Tremor

  • Shaky Hand Syndrome

  • Benign Essential Tremor Syndrome

  • Tremor Hereditary Essential

  • Essential Tremor, Susceptibility To

  • Tremor, Hereditary Essential

Pulmonary Subvalvular Stenosis
  • Pulmonary Infundibular Stenosis

  • Congenital Infundibular Stenosis

  • Infundibular Pulmonic Stenosis

  • Infundibular Pulmonic Stenosis, Congenital

  • Subvalvular Pulmonic Stenosis

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
Bos taurus SKOR1 VGNC VGNC:55143
Rattus norvegicus SKOR1 RGD RGD:1307687
Felis catus SKOR1 VGNC VGNC:104718
Mus musculus SKOR1 MGD MGI:2443473
Macaca mulatta SKOR1 VGNC VGNC:77544
Others SKOR1 NCBI