2. Gene
  3. SATB1 - SATB homeobox 1 Gene

SATB1 - SATB homeobox 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as DEFDA; KTZSL

Gene ID: 6304 | Gene type: protein coding

About SATB1

Cytogenetic location: 3p24.3 Genomic coordinates (GRCh38): 3:18,345,377-18,445,592 (from NCBI)

This gene has 23 transcripts (splice variants), 277 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in brain (RPKM 10.9), lymph node (RPKM 7.3) and 25 other tissues.

Summary

This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. [provided by RefSeq, Apr 2016]

SATB1 Products(9)

mRNA Protein Name
NM_001131010.4 NP_001124482.1 DNA-binding protein SATB1 isoform 1
NM_001195470.3 NP_001182399.1 DNA-binding protein SATB1 isoform 2
NM_001322871.2 NP_001309800.1 DNA-binding protein SATB1 isoform 2
NM_001322872.2 NP_001309801.1 DNA-binding protein SATB1 isoform 1
NM_001322873.2 NP_001309802.1 DNA-binding protein SATB1 isoform 1
NM_001322874.2 NP_001309803.1 DNA-binding protein SATB1 isoform 1
NM_001322875.2 NP_001309804.1 DNA-binding protein SATB1 isoform 1
NM_001322876.2 NP_001309805.1 DNA-binding protein SATB1 isoform 3
NM_002971.6 NP_002962.1 DNA-binding protein SATB1 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
15851481 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
15851481 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18408014 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
15851481 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
15851481 GOA
acts upstream of or within negative regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
15851481 GOA
Cellular Component GO Annotation Evidence Reference Source
located in PML body IDA
IDA: Inferred from direct assay
18408014 GOA
located in nuclear body IDA
IDA: Inferred from direct assay
33513338 GOA
located in nucleus IDA
IDA: Inferred from direct assay
18408014 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

SATB1 Protein Structure

CUT

CUT: CUT domain (364 - 448)

CUT

CUT: CUT domain (487 - 570)

Homeobox

Homeobox: Homeobox domain (646 - 701)

  • 0
  • 200
  • 400
  • 600
  • 763 a.a.
Protein Preferred Names Protein Names

DNA-binding protein SATB1

special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)

Related Diseases

Diseases Alias
Kohlschutter-Tonz Syndrome-Like

KTZSL
Developmental Delay With Dysmorphic Facies And Dental Anomalies

DEFDA
Hyperaldosteronism, Familial, Type Ii

Familial Hyperaldosteronism Type Ii

Familial Hyperaldosteronism Type 2

HALD2

Fh Ii

Fh2

Familial Adrenal Adenoma

Fh-Ii

Fhii

Hyperaldosteronism Familial Type 2

Hyperaldosteronism, Familial, 2
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder
Kohlschutter-Tonz Syndrome

Amelocerebrohypohidrotic Syndrome

KTZS

Epilepsy And Yellow Teeth

Kohlschutter Tonz Syndrome

Kohlschutter Syndrome

Epilepsy Dementia Amelogenesis Imperfecta

Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome

Epilepsy, Dementia, And Amelogenesis Imperfecta

Kohlschutter'S Syndrome

Kohlschütter-Tönz Syndrome

Kohlschuetter-Toenz Syndrome

Presenile Dementia

Dementia
Glass Syndrome

Chromosome 2q32-Q33 Deletion Syndrome

Satb2-Associated Syndrome

2q33.1 Microdeletion Syndrome

Sas

2q32-Q33 Microdeletion Syndrome

2q32q33 Microdeletion Syndrome

Monosomy 2q32

Monosomy 2q32-Q33

Monosomy 2q32q33

2q32 Deletion Syndrome

Del(2)(Q32)

Del(2)(Q32q33)

GLASS

2q32q33 Microdeletion Syndromes

Satb2 Syndrome

Satb2-Associated Syndrome Due To A Chromosomal Rearrangement

Del(2)(Q33.1)

Monosomy 2q33.1

Satb2-Associated Syndrome Due To A Pathogenic Variant

Satb2-Associated Syndrome Due To A Point Mutation

Satb2 Associated Disorder
Noonan Syndrome 13

NS13
Breast Implant-Associated Anaplastic Large Cell Lymphoma
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans

KFSD
Amelogenesis Imperfecta

Ai

Congenital Enamel Hypoplasia

Al - [Amelogenesis Imperfecta]
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS12457 SATB1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris SATB1 VGNC VGNC:45875
Bos taurus SATB1 VGNC VGNC:34298
Macaca mulatta SATB1 VGNC VGNC:84086
Rattus norvegicus SATB1 RGD RGD:1305561
Mus musculus SATB1 MGD MGI:105084
Felis catus SATB1 VGNC VGNC:64881