Gene Gene information from NCBI Gene database.
Entrez ID 6304
Gene name SATB homeobox 1
Gene symbol SATB1
Synonyms (NCBI Gene)
DEFDADHDBVKTZSL
Chromosome 3
Chromosome location 3p24.3
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
miRNA miRNA information provided by mirtarbase database.
224
miRTarBase ID miRNA Experiments Reference
MIRT005643 hsa-miR-448 ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 20798686
MIRT006722 hsa-miR-191-5p Luciferase reporter assayqRT-PCRWestern blot 22683624
MIRT006722 hsa-miR-191-5p Luciferase reporter assayqRT-PCRWestern blot 23542418
MIRT006722 hsa-miR-191-5p Luciferase reporter assayqRT-PCRWestern blot 23542418
MIRT016235 hsa-miR-548b-3p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
EZH2 Repression 21232178
FOXP3 Unknown 21743493
TNFAIP3 Unknown 24039598
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15851481, 33513338
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 15851481
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 15851481
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602075 10541 ENSG00000182568
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q01826
Protein name DNA-binding protein SATB1 (Special AT-rich sequence-binding protein 1)
Protein function Crucial silencing factor contributing to the initiation of X inactivation mediated by Xist RNA that occurs during embryogenesis and in lymphoma (By similarity). Binds to DNA at special AT-rich sequences, the consensus SATB1-binding sequence (CSB
PDB 1YSE , 2L1P , 2MW8 , 2O49 , 2O4A , 3NZL , 3TUO , 6LFF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16534 ULD 72 170 Ubiquitin-like oligomerisation domain of SATB Domain
PF16557 CUTL 176 247 CUT1-like DNA-binding domain of SATB Domain
PF02376 CUT 366 445 CUT domain Domain
PF02376 CUT 489 568 CUT domain Domain
PF00046 Homeodomain 645 702 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in thymus. {ECO:0000269|PubMed:1505028}.
Sequence
MDHLNEATQGKEHSEMSNNVSDPKGPPAKIARLEQNGSPLGRGRLGSTGAKMQGVPLKHS
GHLMKTNLRKGTMLPVFCVVEHYENAIEYDCKEEHAEFVLVRKDMLFNQLIEMALLSLGY
SHSSAAQAKGLIQVGKWNPVPLSYVTDAPDATVADMLQDVYHVVTLKIQL
HSCPKLEDLP
PEQWSHTTVRNALKDLLKDMNQSSLAKECPLSQSMISSIVNSTYYANVSAAKCQEFGRWY
KHFKKTK
DMMVEMDSLSELSQQGANHVNFGQQPVPGNTAEQPPSPAQLSHGSQPSVRTPL
PNLHPGLVSTPISPQLVNQQLVMAQLLNQQYAVNRLLAQQSLNQQYLNHPPPVSRSMNKP
LEQQVSTNTEVSSEIYQWVRDELKRAGISQAVFARVAFNRTQGLLSEILRKEEDPKTASQ
SLLVNLRAMQNFLQLPEAERDRIYQ
DERERSLNAASAMGPAPLISTPPSRPPQVKTATIA
TERNGKPENNTMNINASIYDEIQQEMKRAKVSQALFAKVAATKSQGWLCELLRWKEDPSP
ENRTLWENLSMIRRFLSLPQPERDAIYE
QESNAVHHHGDRPPHIIHVPAEQIQQQQQQQQ
QQQQQQQAPPPPQPQQQPQTGPRLPPRQPTVASPAESDEENRQKTRPRTKISVEALGILQ
SFIQDVGLYPDEEAIQTLSAQLDLPKYTIIKFFQNQRYYLKH
HGKLKDNSGLEVDVAEYK
EEELLKDLEESVQDKNTNTLFSVKLEEELSVEGNTDINTDLKD
Sequence length 763
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Apoptotic cleavage of cellular proteins
SUMOylation of chromatin organization proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental delay with dysmorphic facies and dental anomalies Pathogenic; Likely pathogenic rs1696356078, rs1694228284, rs2125208683, rs752755275, rs2470791087, rs2470798662, rs2470655524, rs2470394817, rs2470652113, rs1575135380 RCV001347718
RCV001347721
RCV002246337
RCV002468650
RCV002468776
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kohlschutter-Tonz syndrome-like Likely pathogenic; Pathogenic rs1694399198, rs1696356628, rs1695858904, rs2125208683, rs1213484295, rs2470656351, rs2470392910, rs1291314034 RCV001347719
RCV001347722
RCV001347724
RCV001358692
RCV005622170
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay Pathogenic rs2125122990 RCV002274417
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Likely pathogenic rs2125123704 RCV002277664
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 31130823
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 29374696, 30774380, 31290787, 31708689, 31737131
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 31290787
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 31290787
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 24009715
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 26678884
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 31906708 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 20522714 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 23317753
★☆☆☆☆
Found in Text Mining only