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O60315

- ZEB2_HUMAN

UniProt

O60315 - ZEB2_HUMAN

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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

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. DNA binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW
  3. phosphatase regulator activity Source: UniProtKB

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiO60315.
CleanExiHS_SIP1.
HS_ZEB2.
ExpressionAtlasiO60315. baseline and differential.
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 202-359, 570-612, 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.
GeneTreeiENSGT00630000089829.
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

        10         20         30         40         50
MKQPIMADGP RCKRRKQANP RRKNVVNYDN VVDTGSETDE EDKLHIAEDD
60 70 80 90 100
GIANPLDQET SPASVPNHES SPHVSQALLP REEEEDEIRE GGVEHPWHNN
110 120 130 140 150
EILQASVDGP EEMKEDYDTM GPEATIQTAI NNGTVKNANC TSDFEEYFAK
160 170 180 190 200
RKLEERDGHA VSIEEYLQRS DTAIIYPEAP EELSRLGTPE ANGQEENDLP
210 220 230 240 250
PGTPDAFAQL LTCPYCDRGY KRLTSLKEHI KYRHEKNEEN FSCPLCSYTF
260 270 280 290 300
AYRTQLERHM VTHKPGTDQH QMLTQGAGNR KFKCTECGKA FKYKHHLKEH
310 320 330 340 350
LRIHSGEKPY ECPNCKKRFS HSGSYSSHIS SKKCIGLISV NGRMRNNIKT
360 370 380 390 400
GSSPNSVSSS PTNSAITQLR NKLENGKPLS MSEQTGLLKI KTEPLDFNDY
410 420 430 440 450
KVLMATHGFS GTSPFMNGGL GATSPLGVHP SAQSPMQHLG VGMEAPLLGF
460 470 480 490 500
PTMNSNLSEV QKVLQIVDNT VSRQKMDCKA EEISKLKGYH MKDPCSQPEE
510 520 530 540 550
QGVTSPNIPP VGLPVVSHNG ATKSIIDYTL EKVNEAKACL QSLTTDSRRQ
560 570 580 590 600
ISNIKKEKLR TLIDLVTDDK MIENHNISTP FSCQFCKESF PGPIPLHQHE
610 620 630 640 650
RYLCKMNEEI KAVLQPHENI VPNKAGVFVD NKALLLSSVL SEKGMTSPIN
660 670 680 690 700
PYKDHMSVLK AYYAMNMEPN SDELLKISIA VGLPQEFVKE WFEQRKVYQY
710 720 730 740 750
SNSRSPSLER SSKPLAPNSN PPTKDSLLPR SPVKPMDSIT SPSIAELHNS
760 770 780 790 800
VTNCDPPLRL TKPSHFTNIK PVEKLDHSRS NTPSPLNLSS TSSKNSHSSS
810 820 830 840 850
YTPNSFSSEE LQAEPLDLSL PKQMKEPKSI IATKNKTKAS SISLDHNSVS
860 870 880 890 900
SSSENSDEPL NLTFIKKEFS NSNNLDNKST NPVFSMNPFS AKPLYTALPP
910 920 930 940 950
QSAFPPATFM PPVQTSIPGL RPYPGLDQMS FLPHMAYTYP TGAATFADMQ
960 970 980 990 1000
QRRKYQRKQG FQGELLDGAQ DYMSGLDDMT DSDSCLSRKK IKKTESGMYA
1010 1020 1030 1040 1050
CDLCDKTFQK SSSLLRHKYE HTGKRPHQCQ ICKKAFKHKH HLIEHSRLHS
1060 1070 1080 1090 1100
GEKPYQCDKC GKRFSHSGSY SQHMNHRYSY CKREAEEREA AEREAREKGH
1110 1120 1130 1140 1150
LEPTELLMNR AYLQSITPQG YSDSEERESM PRDGESEKEH EKEGEDGYGK
1160 1170 1180 1190 1200
LGRQDGDEEF EEEEEESENK SMDTDPETIR DEEETGDHSM DDSSEDGKME
1210
TKSDHEEDNM EDGM
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 202-359, 570-612, 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.
GeneTreei ENSGT00630000089829.
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

Bgeei O60315.
CleanExi HS_SIP1.
HS_ZEB2.
ExpressionAtlasi O60315. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 157 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