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O60315

- ZEB2_HUMAN

UniProt

O60315 - ZEB2_HUMAN

Protein

Zinc finger E-box-binding homeobox 2

Gene

ZEB2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 156 (01 Oct 2014)
      Sequence version 1 (01 Aug 1998)
      Previous versions | rss
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    Functioni

    Transcriptional inhibitor that binds to DNA sequence 5'-CACCT-3' in different promoters. Represses transcription of E-cadherin.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri211 – 23424C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri241 – 26323C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri282 – 30423C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri310 – 33425C2H2-type 4; atypicalPROSITE-ProRule annotationAdd
    BLAST
    DNA bindingi644 – 70360Homeobox; atypicalAdd
    BLAST
    Zinc fingeri999 – 102123C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1027 – 104923C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1055 – 107622C2H2-type 7; atypicalPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW
    2. phosphatase regulator activity Source: UniProtKB
    3. sequence-specific DNA binding Source: InterPro
    4. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. cell proliferation in forebrain Source: Ensembl
    2. developmental pigmentation Source: BHF-UCL
    3. hippocampus development Source: Ensembl
    4. melanocyte migration Source: BHF-UCL
    5. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    6. nervous system development Source: UniProtKB
    7. neural crest cell migration Source: Ensembl
    8. neural tube closure Source: Ensembl
    9. positive regulation of JUN kinase activity Source: Ensembl
    10. positive regulation of melanin biosynthetic process Source: BHF-UCL
    11. positive regulation of melanocyte differentiation Source: BHF-UCL
    12. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    13. positive regulation of Wnt signaling pathway Source: Ensembl
    14. regulation of melanosome organization Source: BHF-UCL
    15. somitogenesis Source: Ensembl
    16. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Enzyme and pathway databases

    SignaLinkiO60315.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zinc finger E-box-binding homeobox 2
    Alternative name(s):
    Smad-interacting protein 1
    Short name:
    SMADIP1
    Zinc finger homeobox protein 1b
    Gene namesi
    Name:ZEB2
    Synonyms:KIAA0569, SIP1, ZFHX1B, ZFX1B
    ORF Names:HRIHFB2411
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:14881. ZEB2.

    Subcellular locationi

    Nucleus 2 Publications

    GO - Cellular componenti

    1. nucleus Source: BHF-UCL

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Mowat-Wilson syndrome (MOWS) [MIM:235730]: A complex developmental disorder characterized by mental retardation, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. Some patients manifest Hirschsprung disease.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti99 – 991Missing in MOWS. 1 Publication
    VAR_027016
    Natural varianti953 – 9531R → G in MOWS. 1 Publication
    VAR_027017
    Natural varianti1119 – 11191Q → R in MOWS. 1 Publication
    VAR_027018

    Keywords - Diseasei

    Disease mutation, Epilepsy, Hirschsprung disease, Mental retardation

    Organism-specific databases

    MIMi235730. phenotype.
    Orphaneti261552. Mowat-Wilson syndrome due to a point mutation.
    261537. Mowat-Wilson syndrome due to monosomy 2q22.
    PharmGKBiPA162409612.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12141214Zinc finger E-box-binding homeobox 2PRO_0000047236Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei377 – 3771N6-acetyllysine1 Publication
    Cross-linki391 – 391Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
    Cross-linki866 – 866Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)

    Post-translational modificationi

    Sumoylation on Lys-391 and Lys-866 is promoted by the E3 SUMO-protein ligase CBX4, and impairs interaction with CTBP1 and transcription repression activity.1 Publication

    Keywords - PTMi

    Acetylation, Isopeptide bond, Ubl conjugation

    Proteomic databases

    MaxQBiO60315.
    PaxDbiO60315.
    PRIDEiO60315.

    PTM databases

    PhosphoSiteiO60315.

    Expressioni

    Gene expression databases

    ArrayExpressiO60315.
    BgeeiO60315.
    CleanExiHS_SIP1.
    HS_ZEB2.
    GenevestigatoriO60315.

    Organism-specific databases

    HPAiHPA003456.

    Interactioni

    Subunit structurei

    Binds activated SMAD1, activated SMAD2 and activated SMAD3; binding with SMAD4 is not detected By similarity. Interacts with CBX4 and CTBP1.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi115175. 21 interactions.
    IntActiO60315. 11 interactions.
    MINTiMINT-1181379.
    STRINGi9606.ENSP00000302501.

    Structurei

    Secondary structure

    1
    1214
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi654 – 66512
    Helixi671 – 68111
    Helixi685 – 70016

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2DA7NMR-A647-704[»]
    ProteinModelPortaliO60315.
    SMRiO60315. Positions 213-359, 648-705, 999-1073.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO60315.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni437 – 48751SMAD-MH2 binding domainBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi1084 – 1214131Glu-rich (acidic)Add
    BLAST

    Sequence similaritiesi

    Contains 7 C2H2-type zinc fingers.PROSITE-ProRule annotation
    Contains 1 homeobox DNA-binding domain.Curated

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri211 – 23424C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri241 – 26323C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri282 – 30423C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri310 – 33425C2H2-type 4; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri999 – 102123C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1027 – 104923C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1055 – 107622C2H2-type 7; atypicalPROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Homeobox, Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5048.
    HOGENOMiHOG000264256.
    HOVERGENiHBG004697.
    InParanoidiO60315.
    KOiK09299.
    OMAiEKLDHSR.
    OrthoDBiEOG790G0D.
    PhylomeDBiO60315.
    TreeFamiTF331759.

    Family and domain databases

    Gene3Di3.30.160.60. 5 hits.
    InterProiIPR008598. Di19_Zn_binding.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view]
    PfamiPF05605. zf-Di19. 1 hit.
    [Graphical view]
    SMARTiSM00389. HOX. 1 hit.
    SM00355. ZnF_C2H2. 8 hits.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00028. ZINC_FINGER_C2H2_1. 5 hits.
    PS50157. ZINC_FINGER_C2H2_2. 6 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O60315-1) [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

    MKQPIMADGP RCKRRKQANP RRKNVVNYDN VVDTGSETDE EDKLHIAEDD     50
    GIANPLDQET SPASVPNHES SPHVSQALLP REEEEDEIRE GGVEHPWHNN 100
    EILQASVDGP EEMKEDYDTM GPEATIQTAI NNGTVKNANC TSDFEEYFAK 150
    RKLEERDGHA VSIEEYLQRS DTAIIYPEAP EELSRLGTPE ANGQEENDLP 200
    PGTPDAFAQL LTCPYCDRGY KRLTSLKEHI KYRHEKNEEN FSCPLCSYTF 250
    AYRTQLERHM VTHKPGTDQH QMLTQGAGNR KFKCTECGKA FKYKHHLKEH 300
    LRIHSGEKPY ECPNCKKRFS HSGSYSSHIS SKKCIGLISV NGRMRNNIKT 350
    GSSPNSVSSS PTNSAITQLR NKLENGKPLS MSEQTGLLKI KTEPLDFNDY 400
    KVLMATHGFS GTSPFMNGGL GATSPLGVHP SAQSPMQHLG VGMEAPLLGF 450
    PTMNSNLSEV QKVLQIVDNT VSRQKMDCKA EEISKLKGYH MKDPCSQPEE 500
    QGVTSPNIPP VGLPVVSHNG ATKSIIDYTL EKVNEAKACL QSLTTDSRRQ 550
    ISNIKKEKLR TLIDLVTDDK MIENHNISTP FSCQFCKESF PGPIPLHQHE 600
    RYLCKMNEEI KAVLQPHENI VPNKAGVFVD NKALLLSSVL SEKGMTSPIN 650
    PYKDHMSVLK AYYAMNMEPN SDELLKISIA VGLPQEFVKE WFEQRKVYQY 700
    SNSRSPSLER SSKPLAPNSN PPTKDSLLPR SPVKPMDSIT SPSIAELHNS 750
    VTNCDPPLRL TKPSHFTNIK PVEKLDHSRS NTPSPLNLSS TSSKNSHSSS 800
    YTPNSFSSEE LQAEPLDLSL PKQMKEPKSI IATKNKTKAS SISLDHNSVS 850
    SSSENSDEPL NLTFIKKEFS NSNNLDNKST NPVFSMNPFS AKPLYTALPP 900
    QSAFPPATFM PPVQTSIPGL RPYPGLDQMS FLPHMAYTYP TGAATFADMQ 950
    QRRKYQRKQG FQGELLDGAQ DYMSGLDDMT DSDSCLSRKK IKKTESGMYA 1000
    CDLCDKTFQK SSSLLRHKYE HTGKRPHQCQ ICKKAFKHKH HLIEHSRLHS 1050
    GEKPYQCDKC GKRFSHSGSY SQHMNHRYSY CKREAEEREA AEREAREKGH 1100
    LEPTELLMNR AYLQSITPQG YSDSEERESM PRDGESEKEH EKEGEDGYGK 1150
    LGRQDGDEEF EEEEEESENK SMDTDPETIR DEEETGDHSM DDSSEDGKME 1200
    TKSDHEEDNM EDGM 1214
    Length:1,214
    Mass (Da):136,447
    Last modified:August 1, 1998 - v1
    Checksum:iB578FD91339C3FDD
    GO
    Isoform 2 (identifier: O60315-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         111-134: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,190
    Mass (Da):133,806
    Checksum:iB9E3278A9EEF8AAC
    GO

    Sequence cautioni

    The sequence BAA25495.2 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1155 – 11551D → G in BAH11928. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti99 – 991Missing in MOWS. 1 Publication
    VAR_027016
    Natural varianti953 – 9531R → G in MOWS. 1 Publication
    VAR_027017
    Natural varianti983 – 9831D → N in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035563
    Natural varianti1119 – 11191Q → R in MOWS. 1 Publication
    VAR_027018

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei111 – 13424Missing in isoform 2. 1 PublicationVSP_044797Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY029472 Genomic DNA. Translation: AAK52081.1.
    AB056507 mRNA. Translation: BAB40819.1.
    AB011141 mRNA. Translation: BAA25495.2. Different initiation.
    AK294928 mRNA. Translation: BAH11928.1.
    AC009951 Genomic DNA. No translation available.
    AC010130 Genomic DNA. No translation available.
    BC127102 mRNA. Translation: AAI27103.1.
    AB015341 mRNA. Translation: BAA34798.1.
    CCDSiCCDS2186.1. [O60315-1]
    CCDS54403.1. [O60315-2]
    RefSeqiNP_001165124.1. NM_001171653.1. [O60315-2]
    NP_055610.1. NM_014795.3. [O60315-1]
    XP_006712944.1. XM_006712881.1. [O60315-1]
    XP_006712945.1. XM_006712882.1. [O60315-1]
    UniGeneiHs.34871.

    Genome annotation databases

    EnsembliENST00000303660; ENSP00000302501; ENSG00000169554. [O60315-1]
    ENST00000409487; ENSP00000386854; ENSG00000169554. [O60315-1]
    ENST00000539609; ENSP00000443792; ENSG00000169554. [O60315-2]
    ENST00000558170; ENSP00000454157; ENSG00000169554. [O60315-1]
    GeneIDi9839.
    KEGGihsa:9839.
    UCSCiuc002tvu.3. human. [O60315-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY029472 Genomic DNA. Translation: AAK52081.1 .
    AB056507 mRNA. Translation: BAB40819.1 .
    AB011141 mRNA. Translation: BAA25495.2 . Different initiation.
    AK294928 mRNA. Translation: BAH11928.1 .
    AC009951 Genomic DNA. No translation available.
    AC010130 Genomic DNA. No translation available.
    BC127102 mRNA. Translation: AAI27103.1 .
    AB015341 mRNA. Translation: BAA34798.1 .
    CCDSi CCDS2186.1. [O60315-1 ]
    CCDS54403.1. [O60315-2 ]
    RefSeqi NP_001165124.1. NM_001171653.1. [O60315-2 ]
    NP_055610.1. NM_014795.3. [O60315-1 ]
    XP_006712944.1. XM_006712881.1. [O60315-1 ]
    XP_006712945.1. XM_006712882.1. [O60315-1 ]
    UniGenei Hs.34871.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2DA7 NMR - A 647-704 [» ]
    ProteinModelPortali O60315.
    SMRi O60315. Positions 213-359, 648-705, 999-1073.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115175. 21 interactions.
    IntActi O60315. 11 interactions.
    MINTi MINT-1181379.
    STRINGi 9606.ENSP00000302501.

    PTM databases

    PhosphoSitei O60315.

    Proteomic databases

    MaxQBi O60315.
    PaxDbi O60315.
    PRIDEi O60315.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000303660 ; ENSP00000302501 ; ENSG00000169554 . [O60315-1 ]
    ENST00000409487 ; ENSP00000386854 ; ENSG00000169554 . [O60315-1 ]
    ENST00000539609 ; ENSP00000443792 ; ENSG00000169554 . [O60315-2 ]
    ENST00000558170 ; ENSP00000454157 ; ENSG00000169554 . [O60315-1 ]
    GeneIDi 9839.
    KEGGi hsa:9839.
    UCSCi uc002tvu.3. human. [O60315-1 ]

    Organism-specific databases

    CTDi 9839.
    GeneCardsi GC02M145121.
    GeneReviewsi ZEB2.
    HGNCi HGNC:14881. ZEB2.
    HPAi HPA003456.
    MIMi 235730. phenotype.
    605802. gene.
    neXtProti NX_O60315.
    Orphaneti 261552. Mowat-Wilson syndrome due to a point mutation.
    261537. Mowat-Wilson syndrome due to monosomy 2q22.
    PharmGKBi PA162409612.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5048.
    HOGENOMi HOG000264256.
    HOVERGENi HBG004697.
    InParanoidi O60315.
    KOi K09299.
    OMAi EKLDHSR.
    OrthoDBi EOG790G0D.
    PhylomeDBi O60315.
    TreeFami TF331759.

    Enzyme and pathway databases

    SignaLinki O60315.

    Miscellaneous databases

    ChiTaRSi ZEB2. human.
    EvolutionaryTracei O60315.
    GeneWikii ZEB2.
    GenomeRNAii 9839.
    NextBioi 37070.
    PROi O60315.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O60315.
    Bgeei O60315.
    CleanExi HS_SIP1.
    HS_ZEB2.
    Genevestigatori O60315.

    Family and domain databases

    Gene3Di 3.30.160.60. 5 hits.
    InterProi IPR008598. Di19_Zn_binding.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view ]
    Pfami PF05605. zf-Di19. 1 hit.
    [Graphical view ]
    SMARTi SM00389. HOX. 1 hit.
    SM00355. ZnF_C2H2. 8 hits.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00028. ZINC_FINGER_C2H2_1. 5 hits.
    PS50157. ZINC_FINGER_C2H2_2. 6 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease."
      Cacheux V., Dastot-Le Moal F., Kaeaeriaeinen H., Bondurand N., Rintala R., Boissier B., Wilson M., Mowat D., Goossens M.
      Hum. Mol. Genet. 10:1503-1510(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], INVOLVEMENT IN MOWS.
    2. "Mutations in SIP1, encoding Smad interacting protein 1, cause a form of Hirschsprung disease."
      Wakamatsu N., Yamada Y., Yamada K., Ono T., Nomura N., Taniguchi H., Kitoh H., Mutoh N., Yamanaka T., Mushiake K., Kato K., Sonta S., Nagaya M.
      Nat. Genet. 27:369-370(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    4. "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 2).
      Tissue: Brain.
    5. "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].
    6. "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] (ISOFORM 1).
    7. "Selection system for genes encoding nuclear-targeted proteins."
      Ueki N., Oda T., Kondo M., Yano K., Noguchi T., Muramatsu M.-A.
      Nat. Biotechnol. 16:1338-1342(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1161-1214 (ISOFORM 1), SUBCELLULAR LOCATION.
      Tissue: Fetal brain.
    8. "Pc2-mediated sumoylation of Smad-interacting protein 1 attenuates transcriptional repression of E-cadherin."
      Long J., Zuo D., Park M.
      J. Biol. Chem. 280:35477-35489(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUMOYLATION AT LYS-391 AND LYS-866, INTERACTION WITH CBX4 AND CTBP1, SUBCELLULAR LOCATION.
    9. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-377, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "Solution structure of the homeobox domain of zinc finger homeobox protein 1B (SMAD interacting protein 1)."
      RIKEN structural genomics initiative (RSGI)
      Submitted (DEC-2006) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 647-705.
    11. "Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B."
      Yoneda M., Fujita T., Yamada Y., Yamada K., Fujii A., Inagaki T., Nakagawa H., Shimada A., Kishikawa M., Nagaya M., Azuma T., Kuriyama M., Wakamatsu N.
      Neurology 59:1637-1640(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MOWS ASN-99 DEL.
    12. "Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21."
      Gregory-Evans C.Y., Vieira H., Dalton R., Adams G.G.W., Salt A., Gregory-Evans K.
      Am. J. Med. Genet. A 131:86-90(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MOWS GLY-953.
    13. "A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype."
      Heinritz W., Zweier C., Froster U.G., Strenge S., Kujat A., Syrbe S., Rauch A., Schuster V.
      Am. J. Med. Genet. A 140:1223-1227(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MOWS ARG-1119.
    14. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-983.

    Entry informationi

    Entry nameiZEB2_HUMAN
    AccessioniPrimary (citable) accession number: O60315
    Secondary accession number(s): A0JP09
    , B7Z2P2, F5H814, Q9UED1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: August 1, 1998
    Last modified: October 1, 2014
    This is version 156 of the entry and version 1 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