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Q9UPW6

- SATB2_HUMAN

UniProt

Q9UPW6 - SATB2_HUMAN

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Protein

DNA-binding protein SATB2

Gene

SATB2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. sequence-specific DNA binding Source: Ensembl

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
Complete GO annotation...

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. nucleus Source: HPA
  4. transcription factor complex Source: Ensembl
Complete GO annotation...

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

BgeeiQ9UPW6.
CleanExiHS_SATB2.
ExpressionAtlasiQ9UPW6. baseline and differential.
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. 9 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 – 37512Combined sources
Helixi379 – 3879Combined sources
Helixi391 – 3999Combined sources
Turni404 – 4063Combined sources
Helixi409 – 42113Combined sources
Helixi426 – 43712Combined sources
Helixi486 – 49813Combined sources
Helixi502 – 5087Combined sources
Helixi514 – 52310Combined sources
Helixi532 – 54514Combined sources
Helixi549 – 55911Combined sources
Helixi624 – 63613Combined sources
Helixi642 – 65110Combined sources
Helixi656 – 66914Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00390000008096.
HOVERGENiHBG054240.
InParanoidiQ9UPW6.
OMAiPPAEDSC.
OrthoDBiEOG7FBRH5.
PhylomeDBiQ9UPW6.
TreeFamiTF332714.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 2 hits.
InterProiIPR003350. CUT_dom.
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

        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
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. Curated

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:
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_006712372.1. [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]
ENST00000614512; ENSP00000483287; ENSG00000119042. [Q9UPW6-2]
GeneIDi23314.
KEGGihsa:23314.
UCSCiuc002uuy.2. human. [Q9UPW6-1]
uc010fsq.2. human.

Polymorphism databases

DMDMi13634020.

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

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 .
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:
PDBei
RCSB PDBi
PDBji
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. 9 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 ]
ENST00000614512 ; ENSP00000483287 ; ENSG00000119042 . [Q9UPW6-2 ]
GeneIDi 23314.
KEGGi hsa:23314.
UCSCi uc002uuy.2. human. [Q9UPW6-1 ]
uc010fsq.2. human.

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.
GeneTreei ENSGT00390000008096.
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

Bgeei Q9UPW6.
CleanExi HS_SATB2.
ExpressionAtlasi Q9UPW6. baseline and differential.
Genevestigatori Q9UPW6.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
1.10.260.40. 2 hits.
InterProi IPR003350. CUT_dom.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 131 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