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Q9UPW6

- SATB2_HUMAN

UniProt

Q9UPW6 - SATB2_HUMAN

Protein

DNA-binding protein SATB2

Gene

SATB2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 2 (27 Apr 2001)
      Previous versions | rss
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    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)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi350 – 43788CUT 1PROSITE-ProRule annotationAdd
    BLAST
    DNA bindingi473 – 56088CUT 2PROSITE-ProRule annotationAdd
    BLAST
    DNA bindingi615 – 67460HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: Ensembl
    2. protein binding Source: IntAct
    3. sequence-specific DNA binding Source: Ensembl
    4. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. cartilage development Source: Ensembl
    2. cellular response to organic substance Source: Ensembl
    3. chromatin remodeling Source: Ensembl
    4. embryonic pattern specification Source: Ensembl
    5. embryonic skeletal system morphogenesis Source: Ensembl
    6. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    7. neuron migration Source: Ensembl
    8. osteoblast development Source: Ensembl
    9. palate development Source: Ensembl
    10. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    11. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Chromatin regulator, Developmental protein, Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DNA-binding protein SATB2
    Alternative name(s):
    Special AT-rich sequence-binding protein 2
    Gene namesi
    Name:SATB2
    Synonyms:KIAA1034
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:21637. SATB2.

    Subcellular locationi

    Nucleus matrix 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. histone deacetylase complex Source: Ensembl
    3. nuclear matrix Source: UniProtKB-SubCell
    4. nucleus Source: HPA
    5. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Chromosomal aberrations involving SATB2 are found in isolated cleft palate. Translocation t(2;7); translocation t(2;11).
    Cleft palate isolated (CPI) [MIM:119540]: A 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.2 Publications
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    A chromosomal aberration involving SATB2 is found in a patient with classical features of Toriello-Carey syndrome. Translocation t(2;14)(q33;q22).

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi233 – 2331K → R: Reduced sumoylation, impaired nuclear localization, but enhanced transcription factor activity. 1 Publication
    Mutagenesisi350 – 3501K → R: Reduced sumoylation, impaired nuclear localization, but enhanced transcription factor activity. 1 Publication

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    MIMi119540. phenotype.
    Orphaneti251019. 2q32q33 microdeletion syndrome.
    251028. 2q33.1 microdeletion syndrome.
    199306. Cleft lip/palate.
    PharmGKBiPA128394624.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 733733DNA-binding protein SATB2PRO_0000202400Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki233 – 233Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)Curated
    Cross-linki350 – 350Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)Curated

    Post-translational modificationi

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

    Keywords - PTMi

    Isopeptide bond, Ubl conjugation

    Proteomic databases

    MaxQBiQ9UPW6.
    PaxDbiQ9UPW6.
    PRIDEiQ9UPW6.

    PTM databases

    PhosphoSiteiQ9UPW6.

    Expressioni

    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

    ArrayExpressiQ9UPW6.
    BgeeiQ9UPW6.
    CleanExiHS_SATB2.
    GenevestigatoriQ9UPW6.

    Organism-specific databases

    HPAiCAB023669.
    CAB062562.
    HPA001042.
    HPA029543.

    Interactioni

    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

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    TP63Q9H3D4-25EBI-8298169,EBI-6481107

    Protein-protein interaction databases

    BioGridi116905. 4 interactions.
    DIPiDIP-60551N.
    IntActiQ9UPW6. 1 interaction.
    MINTiMINT-2822679.
    STRINGi9606.ENSP00000260926.

    Structurei

    Secondary structure

    1
    733
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi364 – 37512
    Helixi379 – 3879
    Helixi391 – 3999
    Turni404 – 4063
    Helixi409 – 42113
    Helixi426 – 43712
    Helixi486 – 49813
    Helixi502 – 5087
    Helixi514 – 52310
    Helixi532 – 54514
    Helixi549 – 55911
    Helixi624 – 63613
    Helixi642 – 65110
    Helixi656 – 66914

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1WI3NMR-A615-672[»]
    1WIZNMR-A350-437[»]
    2CSFNMR-A473-560[»]
    ProteinModelPortaliQ9UPW6.
    SMRiQ9UPW6. Positions 57-157, 165-231, 350-437, 473-560, 615-674.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9UPW6.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the CUT homeobox family.Curated
    Contains 2 CUT DNA-binding domains.PROSITE-ProRule annotation
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox, Repeat

    Phylogenomic databases

    eggNOGiNOG313826.
    HOVERGENiHBG054240.
    InParanoidiQ9UPW6.
    OMAiPPAEDSC.
    OrthoDBiEOG7FBRH5.
    PhylomeDBiQ9UPW6.
    TreeFamiTF332714.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    1.10.260.40. 2 hits.
    InterProiIPR003350. Hmoeo_CUT.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR010982. Lambda_DNA-bd_dom.
    [Graphical view]
    PfamiPF02376. CUT. 2 hits.
    PF00046. Homeobox. 1 hit.
    [Graphical view]
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    SSF47413. SSF47413. 2 hits.
    PROSITEiPS51042. CUT. 2 hits.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

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

    This isoform has been chosen as the 'canonical' 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

    MERRSESPCL RDSPDRRSGS PDVKGPPPVK VARLEQNGSP MGARGRPNGA    50
    VAKAVGGLMI PVFCVVEQLD GSLEYDNREE HAEFVLVRKD VLFSQLVETA 100
    LLALGYSHSS AAQAQGIIKL GRWNPLPLSY VTDAPDATVA DMLQDVYHVV 150
    TLKIQLQSCS KLEDLPAEQW NHATVRNALK ELLKEMNQST LAKECPLSQS 200
    MISSIVNSTY YANVSATKCQ EFGRWYKKYK KIKVERVERE NLSDYCVLGQ 250
    RPMHLPNMNQ LASLGKTNEQ SPHSQIHHST PIRNQVPALQ PIMSPGLLSP 300
    QLSPQLVRQQ IAMAHLINQQ IAVSRLLAHQ HPQAINQQFL NHPPIPRAVK 350
    PEPTNSSVEV SPDIYQQVRD ELKRASVSQA VFARVAFNRT QGLLSEILRK 400
    EEDPRTASQS LLVNLRAMQN FLNLPEVERD RIYQDERERS MNPNVSMVSS 450
    ASSSPSSSRT PQAKTSTPTT DLPIKVDGAN INITAAIYDE IQQEMKRAKV 500
    SQALFAKVAA NKSQGWLCEL LRWKENPSPE NRTLWENLCT IRRFLNLPQH 550
    ERDVIYEEES RHHHSERMQH VVQLPPEPVQ VLHRQQSQPA KESSPPREEA 600
    PPPPPPTEDS CAKKPRSRTK ISLEALGILQ SFIHDVGLYP DQEAIHTLSA 650
    QLDLPKHTII KFFQNQRYHV KHHGKLKEHL GSAVDVAEYK DEELLTESEE 700
    NDSEEGSEEM YKVEAEEENA DKSKAAPAEI DQR 733
    Length:733
    Mass (Da):82,555
    Last modified:April 27, 2001 - v2
    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.

    Note: No experimental confirmation available.

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

    Sequence cautioni

    The sequence BAA82986.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti263 – 2631S → P.
    Corresponds to variant rs12619995 [ dbSNP | Ensembl ].
    VAR_059320

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei116 – 233118Missing in isoform 2. 1 PublicationVSP_054416Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_006712372.1. [Q9UPW6-1]
    UniGeneiHs.516617.

    Genome annotation databases

    EnsembliENST00000260926; ENSP00000260926; ENSG00000119042. [Q9UPW6-1]
    ENST00000417098; ENSP00000401112; ENSG00000119042. [Q9UPW6-1]
    ENST00000428695; ENSP00000388581; ENSG00000119042. [Q9UPW6-2]
    ENST00000457245; ENSP00000405420; ENSG00000119042. [Q9UPW6-1]
    GeneIDi23314.
    KEGGihsa:23314.
    UCSCiuc002uuy.2. human. [Q9UPW6-1]

    Polymorphism databases

    DMDMi13634020.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS2327.1. [Q9UPW6-1 ]
    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_006712372.1. [Q9UPW6-1 ]
    UniGenei Hs.516617.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1WI3 NMR - A 615-672 [» ]
    1WIZ NMR - A 350-437 [» ]
    2CSF NMR - A 473-560 [» ]
    ProteinModelPortali Q9UPW6.
    SMRi Q9UPW6. Positions 57-157, 165-231, 350-437, 473-560, 615-674.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116905. 4 interactions.
    DIPi DIP-60551N.
    IntActi Q9UPW6. 1 interaction.
    MINTi MINT-2822679.
    STRINGi 9606.ENSP00000260926.

    PTM databases

    PhosphoSitei Q9UPW6.

    Polymorphism databases

    DMDMi 13634020.

    Proteomic databases

    MaxQBi Q9UPW6.
    PaxDbi Q9UPW6.
    PRIDEi Q9UPW6.

    Protocols and materials databases

    DNASUi 23314.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000260926 ; ENSP00000260926 ; ENSG00000119042 . [Q9UPW6-1 ]
    ENST00000417098 ; ENSP00000401112 ; ENSG00000119042 . [Q9UPW6-1 ]
    ENST00000428695 ; ENSP00000388581 ; ENSG00000119042 . [Q9UPW6-2 ]
    ENST00000457245 ; ENSP00000405420 ; ENSG00000119042 . [Q9UPW6-1 ]
    GeneIDi 23314.
    KEGGi hsa:23314.
    UCSCi uc002uuy.2. human. [Q9UPW6-1 ]

    Organism-specific databases

    CTDi 23314.
    GeneCardsi GC02M200098.
    HGNCi HGNC:21637. SATB2.
    HPAi CAB023669.
    CAB062562.
    HPA001042.
    HPA029543.
    MIMi 119540. phenotype.
    608148. gene.
    neXtProti NX_Q9UPW6.
    Orphaneti 251019. 2q32q33 microdeletion syndrome.
    251028. 2q33.1 microdeletion syndrome.
    199306. Cleft lip/palate.
    PharmGKBi PA128394624.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG313826.
    HOVERGENi HBG054240.
    InParanoidi Q9UPW6.
    OMAi PPAEDSC.
    OrthoDBi EOG7FBRH5.
    PhylomeDBi Q9UPW6.
    TreeFami TF332714.

    Miscellaneous databases

    ChiTaRSi SATB2. human.
    EvolutionaryTracei Q9UPW6.
    GeneWikii SATB2.
    GenomeRNAii 23314.
    NextBioi 45192.
    PROi Q9UPW6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UPW6.
    Bgeei Q9UPW6.
    CleanExi HS_SATB2.
    Genevestigatori Q9UPW6.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    1.10.260.40. 2 hits.
    InterProi IPR003350. Hmoeo_CUT.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR010982. Lambda_DNA-bd_dom.
    [Graphical view ]
    Pfami PF02376. CUT. 2 hits.
    PF00046. Homeobox. 1 hit.
    [Graphical view ]
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    SSF47413. SSF47413. 2 hits.
    PROSITEi PS51042. CUT. 2 hits.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 6:197-205(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    6. "SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression."
      Dobreva G., Dambacher J., Grosschedl R.
      Genes Dev. 17:3048-3061(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH PIAS1, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, MUTAGENESIS OF LYS-233 AND LYS-350, SUMOYLATION.
    7. Cited for: INVOLVEMENT IN CPI.
    8. "Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects."
      Leoyklang P., Suphapeetiporn K., Siriwan P., Desudchit T., Chaowanapanja P., Gahl W.A., Shotelersuk V.
      Hum. Mutat. 28:732-738(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CPI.
    9. "Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2."
      Tegay D.H., Chan K.K., Leung L., Wang C., Burkett S., Stone G., Stanyon R., Toriello H.V., Hatchwell E.
      Clin. Genet. 75:259-264(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL TRANSLOCATION.
    10. "Solution structure of the homeodomain of KIAA1034 protein."
      RIKEN structural genomics initiative (RSGI)
      Submitted (FEB-2009) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 615-674.
    11. "Solution structure of the first CUT domain of KIAA1034 protein."
      RIKEN structural genomics initiative (RSGI)
      Submitted (FEB-2009) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 350-437.
    12. "Solution structure of the second CUT domain of human SATB2."
      RIKEN structural genomics initiative (RSGI)
      Submitted (FEB-2009) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 473-560.

    Entry informationi

    Entry nameiSATB2_HUMAN
    AccessioniPrimary (citable) accession number: Q9UPW6
    Secondary accession number(s): A8K5Z8, Q3ZB87, Q4V763
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: April 27, 2001
    Last modified: October 1, 2014
    This is version 130 of the entry and version 2 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    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

    External Data

    Dasty 3