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UniProtKB - Q9UPW6 (SATB2_HUMAN)

Entry version 193 (23 Feb 2022)
Sequence version 2 (27 Apr 2001)
Previous versions | rss
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Protein

DNA-binding protein SATB2

Gene

SATB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Required for the initiation of the upper-layer neurons (UL1) specific genetic program and for the inactivation of deep-layer neurons (DL) and UL2 specific genes, probably by modulating BCL11B expression. Repressor of Ctip2 and regulatory determinant of corticocortical connections in the developing cerebral cortex. May play an important role in palate formation. Acts as a molecular node in a transcriptional network regulating skeletal development and osteoblast differentiation.

1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi350 – 437CUT 1PROSITE-ProRule annotationAdd BLAST88
DNA bindingi473 – 560CUT 2PROSITE-ProRule annotationAdd BLAST88
DNA bindingi615 – 674HomeoboxPROSITE-ProRule annotationAdd BLAST60

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChromatin regulator, Developmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9UPW6

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-4551638, SUMOylation of chromatin organization proteins
R-HSA-8940973, RUNX2 regulates osteoblast differentiation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9UPW6

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9UPW6

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
DNA-binding protein SATB2
Alternative name(s):
Special AT-rich sequence-binding protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SATB2
Synonyms:KIAA1034
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:21637, SATB2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608148, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UPW6

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000119042

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Chromosomal aberrations involving SATB2 are found in isolated cleft palate. Translocation t(2;7); translocation t(2;11).1 Publication
Cleft palate isolated (CPI)2 Publications
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionA congenital fissure of the soft and/or hard palate, due to faulty fusion. Isolated cleft palate is not associated with cleft lips. Some patients may manifest other craniofacial dysmorphic features, mental retardation, and osteoporosis.
Related information in OMIM
A chromosomal aberration involving SATB2 is found in a patient with classical features of Toriello-Carey syndrome. Translocation t(2;14)(q33;q22).1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi233K → R: Reduced sumoylation, impaired nuclear localization, but enhanced transcription factor activity. 1 Publication1
Mutagenesisi350K → R: Reduced sumoylation, impaired nuclear localization, but enhanced transcription factor activity. 1 Publication1

Keywords - Diseasei

Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		23314

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SATB2

MalaCards human disease database

More...MalaCardsi		SATB2
MIMi119540, phenotype

Open Targets

More...OpenTargetsi		ENSG00000119042

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		251019, 2q32q33 microdeletion syndrome
251028, SATB2-associated syndrome due to a chromosomal rearrangement
576283, SATB2-associated syndrome due to a pathogenic variant

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA128394624

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9UPW6, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SATB2

Domain mapping of disease mutations (DMDM)

More...DMDMi		13634020

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002024001 – 733DNA-binding protein SATB2Add BLAST733

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei20PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki24Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki30Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei39PhosphoserineCombined sources1
Cross-linki161Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki233Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)Curated
Cross-linki350Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternateCurated
Cross-linki350Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei454PhosphoserineCombined sources1
Modified residuei467PhosphothreonineCombined sources1
Cross-linki475Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei594PhosphoserineCombined sources1
Cross-linki724Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Sumoylated by PIAS1. Sumoylation promotes nuclear localization, but represses transcription factor activity.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UPW6

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UPW6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UPW6

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9UPW6

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9UPW6

PeptideAtlas

More...PeptideAtlasi		Q9UPW6

PRoteomics IDEntifications database

More...PRIDEi		Q9UPW6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		61903
85463 [Q9UPW6-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UPW6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9UPW6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

High expression in adult brain, moderate expression in fetal brain, and weak expression in adult liver, kidney, and spinal cord and in select brain regions, including amygdala, corpus callosum, caudate nucleus, and hippocampus.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000119042, Expressed in neocortex and 198 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UPW6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UPW6, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000119042, Group enriched (brain, intestine)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ATF4 and RUNX2; resulting in enhanced DNA binding and transactivation by these transcription factors (By similarity).

Interacts with PIAS1.

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		116905, 84 interactors

Database of interacting proteins

More...DIPi		DIP-60551N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q9UPW6

Protein interaction database and analysis system

More...IntActi		Q9UPW6, 50 interactors

Molecular INTeraction database

More...MINTi		Q9UPW6

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000401112

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9UPW6, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1733
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9UPW6

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9UPW6

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini57 – 158ULDPROSITE-ProRule annotationAdd BLAST102
Domaini161 – 234CUTLPROSITE-ProRule annotationAdd BLAST74

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 47DisorderedSequence analysisAdd BLAST47
Regioni435 – 473DisorderedSequence analysisAdd BLAST39
Regioni580 – 617DisorderedSequence analysisAdd BLAST38
Regioni694 – 733DisorderedSequence analysisAdd BLAST40

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1 – 19Basic and acidic residuesSequence analysisAdd BLAST19
Compositional biasi439 – 473Polar residuesSequence analysisAdd BLAST35
Compositional biasi595 – 610Pro residuesSequence analysisAdd BLAST16
Compositional biasi694 – 712Acidic residuesSequence analysisAdd BLAST19
Compositional biasi713 – 733Basic and acidic residuesSequence analysisAdd BLAST21

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CUT homeobox family.Curated

Keywords - Domaini

Homeobox, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3755, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000008096

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_012559_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UPW6

Identification of Orthologs from Complete Genome Data

More...OMAi		YCDLPVG

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UPW6

TreeFam database of animal gene trees

More...TreeFami		TF332714

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086, homeodomain, 1 hit
cd11585, SATB1_N, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.260.40, 2 hits
1.10.260.70, 1 hit
3.10.20.710, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003350, CUT_dom
IPR032355, CUTL
IPR009057, Homeobox-like_sf
IPR001356, Homeobox_dom
IPR010982, Lambda_DNA-bd_dom_sf
IPR039673, SATB1/SATB2
IPR038216, SATB_CUTL_sf
IPR038224, SATB_ULD_sf
IPR032392, ULD

The PANTHER Classification System

More...PANTHERi		PTHR15116, PTHR15116, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02376, CUT, 2 hits
PF16557, CUTL, 1 hit
PF00046, Homeodomain, 1 hit
PF16534, ULD, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01109, CUT, 2 hits
SM00389, HOX, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689, SSF46689, 1 hit
SSF47413, SSF47413, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51042, CUT, 2 hits
PS51983, CUTL, 1 hit
PS50071, HOMEOBOX_2, 1 hit
PS51982, ULD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UPW6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MERRSESPCL RDSPDRRSGS PDVKGPPPVK VARLEQNGSP MGARGRPNGA 
        60         70         80         90        100
VAKAVGGLMI PVFCVVEQLD GSLEYDNREE HAEFVLVRKD VLFSQLVETA 
       110        120        130        140        150
LLALGYSHSS AAQAQGIIKL GRWNPLPLSY VTDAPDATVA DMLQDVYHVV 
       160        170        180        190        200
TLKIQLQSCS KLEDLPAEQW NHATVRNALK ELLKEMNQST LAKECPLSQS 
       210        220        230        240        250
MISSIVNSTY YANVSATKCQ EFGRWYKKYK KIKVERVERE NLSDYCVLGQ 
       260        270        280        290        300
RPMHLPNMNQ LASLGKTNEQ SPHSQIHHST PIRNQVPALQ PIMSPGLLSP 
       310        320        330        340        350
QLSPQLVRQQ IAMAHLINQQ IAVSRLLAHQ HPQAINQQFL NHPPIPRAVK 
       360        370        380        390        400
PEPTNSSVEV SPDIYQQVRD ELKRASVSQA VFARVAFNRT QGLLSEILRK 
       410        420        430        440        450
EEDPRTASQS LLVNLRAMQN FLNLPEVERD RIYQDERERS MNPNVSMVSS 
       460        470        480        490        500
ASSSPSSSRT PQAKTSTPTT DLPIKVDGAN INITAAIYDE IQQEMKRAKV 
       510        520        530        540        550
SQALFAKVAA NKSQGWLCEL LRWKENPSPE NRTLWENLCT IRRFLNLPQH 
       560        570        580        590        600
ERDVIYEEES RHHHSERMQH VVQLPPEPVQ VLHRQQSQPA KESSPPREEA 
       610        620        630        640        650
PPPPPPTEDS CAKKPRSRTK ISLEALGILQ SFIHDVGLYP DQEAIHTLSA 
       660        670        680        690        700
QLDLPKHTII KFFQNQRYHV KHHGKLKEHL GSAVDVAEYK DEELLTESEE 
       710        720        730 
NDSEEGSEEM YKVEAEEENA DKSKAAPAEI DQR
Length:733
Mass (Da):82,555
Last modified:April 27, 2001 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1FE1FCBD34F11E9E
GO
Isoform 2 (identifier: Q9UPW6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     116-233: Missing.

Show »
Length:615
Mass (Da):69,137
Checksum:i8A4F3998CF207015
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JR56C9JR56_HUMAN
DNA-binding protein SATB
SATB2
674Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WCV6F8WCV6_HUMAN
DNA-binding protein SATB2
SATB2
126Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA82986 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_059320263S → P. Corresponds to variant dbSNP:rs12619995Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_054416116 – 233Missing in isoform 2. 1 PublicationAdd BLAST118

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB028957 mRNA Translation: BAA82986.1 Different initiation.
AK291463 mRNA Translation: BAF84152.1
AC016746 Genomic DNA No translation available.
AC017096 Genomic DNA No translation available.
CH471063 Genomic DNA Translation: EAW70180.1
BC098136 mRNA Translation: AAH98136.1
BC099723 mRNA Translation: AAH99723.1
BC103492 mRNA Translation: AAI03493.1
BC103500 mRNA Translation: AAI03501.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2327.1 [Q9UPW6-1]

NCBI Reference Sequences

More...RefSeqi		NP_001165980.1, NM_001172509.1 [Q9UPW6-1]
NP_001165988.1, NM_001172517.1 [Q9UPW6-1]
NP_056080.1, NM_015265.3 [Q9UPW6-1]
XP_006712435.1, XM_006712372.2
XP_011509142.1, XM_011510840.2 [Q9UPW6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000260926; ENSP00000260926; ENSG00000119042
ENST00000417098; ENSP00000401112; ENSG00000119042
ENST00000428695; ENSP00000388581; ENSG00000119042 [Q9UPW6-2]
ENST00000457245; ENSP00000405420; ENSG00000119042
ENST00000614512; ENSP00000483287; ENSG00000119042 [Q9UPW6-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		23314

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:23314

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000417098.6; ENSP00000401112.1; NM_001172509.2; NP_001165980.1

UCSC genome browser

More...UCSCi		uc002uuy.2, human [Q9UPW6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB028957 mRNA Translation: BAA82986.1 Different initiation.
AK291463 mRNA Translation: BAF84152.1
AC016746 Genomic DNA No translation available.
AC017096 Genomic DNA No translation available.
CH471063 Genomic DNA Translation: EAW70180.1
BC098136 mRNA Translation: AAH98136.1
BC099723 mRNA Translation: AAH99723.1
BC103492 mRNA Translation: AAI03493.1
BC103500 mRNA Translation: AAI03501.1
CCDSiCCDS2327.1 [Q9UPW6-1]
RefSeqiNP_001165980.1, NM_001172509.1 [Q9UPW6-1]
NP_001165988.1, NM_001172517.1 [Q9UPW6-1]
NP_056080.1, NM_015265.3 [Q9UPW6-1]
XP_006712435.1, XM_006712372.2
XP_011509142.1, XM_011510840.2 [Q9UPW6-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WI3NMR-A615-672[»]
1WIZNMR-A350-437[»]
2CSFNMR-A473-560[»]
SMRiQ9UPW6
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi116905, 84 interactors
DIPiDIP-60551N
ELMiQ9UPW6
IntActiQ9UPW6, 50 interactors
MINTiQ9UPW6
STRINGi9606.ENSP00000401112

PTM databases

iPTMnetiQ9UPW6
PhosphoSitePlusiQ9UPW6

Genetic variation databases

BioMutaiSATB2
DMDMi13634020

Proteomic databases

EPDiQ9UPW6
jPOSTiQ9UPW6
MassIVEiQ9UPW6
MaxQBiQ9UPW6
PaxDbiQ9UPW6
PeptideAtlasiQ9UPW6
PRIDEiQ9UPW6
ProteomicsDBi61903
85463 [Q9UPW6-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		19915, 311 antibodies from 40 providers

The DNASU plasmid repository

More...DNASUi		23314

Genome annotation databases

EnsembliENST00000260926; ENSP00000260926; ENSG00000119042
ENST00000417098; ENSP00000401112; ENSG00000119042
ENST00000428695; ENSP00000388581; ENSG00000119042 [Q9UPW6-2]
ENST00000457245; ENSP00000405420; ENSG00000119042
ENST00000614512; ENSP00000483287; ENSG00000119042 [Q9UPW6-2]
GeneIDi23314
KEGGihsa:23314
MANE-SelectiENST00000417098.6; ENSP00000401112.1; NM_001172509.2; NP_001165980.1
UCSCiuc002uuy.2, human [Q9UPW6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		23314
DisGeNETi23314

GeneCards: human genes, protein and diseases

More...GeneCardsi		SATB2
GeneReviewsiSATB2
HGNCiHGNC:21637, SATB2
HPAiENSG00000119042, Group enriched (brain, intestine)
MalaCardsiSATB2
MIMi119540, phenotype
608148, gene
neXtProtiNX_Q9UPW6
OpenTargetsiENSG00000119042
Orphaneti251019, 2q32q33 microdeletion syndrome
251028, SATB2-associated syndrome due to a chromosomal rearrangement
576283, SATB2-associated syndrome due to a pathogenic variant
PharmGKBiPA128394624
VEuPathDBiHostDB:ENSG00000119042

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3755, Eukaryota
GeneTreeiENSGT00390000008096
HOGENOMiCLU_012559_1_0_1
InParanoidiQ9UPW6
OMAiYCDLPVG
PhylomeDBiQ9UPW6
TreeFamiTF332714

Enzyme and pathway databases

PathwayCommonsiQ9UPW6
ReactomeiR-HSA-4551638, SUMOylation of chromatin organization proteins
R-HSA-8940973, RUNX2 regulates osteoblast differentiation
SignaLinkiQ9UPW6
SIGNORiQ9UPW6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		23314, 14 hits in 1070 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SATB2, human
EvolutionaryTraceiQ9UPW6

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SATB2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		23314
PharosiQ9UPW6, Tbio

Protein Ontology

More...PROi		PR:Q9UPW6
RNActiQ9UPW6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000119042, Expressed in neocortex and 198 other tissues
ExpressionAtlasiQ9UPW6, baseline and differential
GenevisibleiQ9UPW6, HS

Family and domain databases

CDDicd00086, homeodomain, 1 hit
cd11585, SATB1_N, 1 hit
Gene3Di1.10.260.40, 2 hits
1.10.260.70, 1 hit
3.10.20.710, 1 hit
InterProiView protein in InterPro
IPR003350, CUT_dom
IPR032355, CUTL
IPR009057, Homeobox-like_sf
IPR001356, Homeobox_dom
IPR010982, Lambda_DNA-bd_dom_sf
IPR039673, SATB1/SATB2
IPR038216, SATB_CUTL_sf
IPR038224, SATB_ULD_sf
IPR032392, ULD
PANTHERiPTHR15116, PTHR15116, 1 hit
PfamiView protein in Pfam
PF02376, CUT, 2 hits
PF16557, CUTL, 1 hit
PF00046, Homeodomain, 1 hit
PF16534, ULD, 1 hit
SMARTiView protein in SMART
SM01109, CUT, 2 hits
SM00389, HOX, 1 hit
SUPFAMiSSF46689, SSF46689, 1 hit
SSF47413, SSF47413, 2 hits
PROSITEiView protein in PROSITE
PS51042, CUT, 2 hits
PS51983, CUTL, 1 hit
PS50071, HOMEOBOX_2, 1 hit
PS51982, ULD, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSATB2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UPW6
Secondary accession number(s): A8K5Z8, Q3ZB87, Q4V763
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 27, 2001
Last modified: February 23, 2022
This is version 193 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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