SATB1 - SATB homeobox 1 Gene

Also Known as DEFDA; KTZSL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6304

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	References	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	References	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	References	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

Homeobox

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)

SATB1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SATB1	Q01826	SUMO1P1	Homo sapiens	G2XKQ0	Validated Y2H	25416956
Intra	SATB1	Q01826	SUMO1P1	Homo sapiens	G2XKQ0	Y2H Prey Pooling	25416956
Intra	SATB1	Q01826	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	SATB1	Q01826	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	SATB1	Q01826	MEOX2	Homo sapiens	Q6FHY5	Validated Y2H	32296183
Intra	SATB1	Q01826	CTNNB1	Homo sapiens	P35222	Anti Tag CoIP	20126258
Intra	SATB1	Q01826	CTNNB1	Homo sapiens	P35222	Pull Down	20126258
Intra	SATB1	Q01826	SPG21	Homo sapiens	Q9NZD8	Validated Y2H	32296183
Intra	SATB1	Q01826	SPG21	Homo sapiens	Q9NZD8	Y2H Array	32296183
Intra	SATB1	Q01826	SPG21	Homo sapiens	Q9NZD8	Y2H Prey Pooling	32296183
Intra	SATB1	Q01826	SUMO1	Homo sapiens	P63165	Y2H	18408014

Cross: Cross-species interaction Intra: Intraspecies interaction

SATB1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81409	SATB1 Antibody (YA1154)	IHC-P	Human
HY-P81409A	SATB1 Antibody (YA1154)(PBS only)	IHC-P	Human

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W011725	N-6-Methyl-2-deoxyadenosine	Inhibitor	99.83%	Unkown
HY-RS12457	SATB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20101	Satb1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26604	Satb1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SATB1	NCBI