Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6304
Gene name Gene Name - the full gene name approved by the HGNC.
SATB homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SATB1
Synonyms (NCBI Gene) Gene synonyms aliases
DEFDA, DHDBV, KTZSL
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DEFDA, DHDBV
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT005643 hsa-miR-448 Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 20798686
MIRT006722 hsa-miR-191-5p Luciferase reporter assay, qRT-PCR, Western blot 22683624
MIRT006722 hsa-miR-191-5p Luciferase reporter assay, qRT-PCR, Western blot 23542418
MIRT006722 hsa-miR-191-5p Luciferase reporter assay, qRT-PCR, Western blot 23542418
MIRT016235 hsa-miR-548b-3p Sequencing 20371350
Transcription factors
Transcription factor Regulation Reference
EZH2 Repression 21232178
FOXP3 Unknown 21743493
TNFAIP3 Unknown 24039598
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15851481
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 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602075 10541 ENSG00000182568
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370
View all (5 more)
27602772
Unknown
Disease term Disease name Evidence References Source
Mental retardation syndromic intellectual disability GenCC
Neurodevelopmental Disorders complex neurodevelopmental disorder, neurodevelopmental disorder GenCC
Neuroticism Neuroticism GWAS
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 32562536
Adrenal Insufficiency Associate 35460833
Anemia Diamond Blackfan Associate 35460833
Anemia Diamond Blackfan Inhibit 36987811
Anxiety Associate 31906708
Asthma Associate 20522714
Autism Spectrum Disorder Associate 34615535
Blood Coagulation Disorders Associate 33974229
Breast Neoplasms Associate 20980149, 21597389, 23505378, 25956130, 25966097, 26315726, 27590341, 27697109, 29936452, 32562536, 35611599
Breast Neoplasms Stimulate 26678884