Zinc Finger Homeobox Protein 1B (ZFHX1B)

ZEB2; SIP1; SIP-1; SMADIP1; SIP1; Zinc Finger E-Box Binding Homeobox 2; SMAD Interacting Protein 1

SPN	N946
HGNC	14881
MGI	1344407
PubMed	23312518
RGD	1307272
UniProt	O60315
Wiki	ZFHX1B

The ZEB2 gene is a member of the ZEB1/Drosophila Zfh1 family of 2-handed zinc finger/homeodomain proteins and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs , the transducers of TGF-beta signaling, and interacts with the nucleosome remodeling and histone deacetylation (NURD) complex.

The Smadip1 protein contains a SMAD-binding domain, a homeodomain-like sequence, and 2 separate clusters of zinc fingers, one N-terminal and the other C-terminal.The deduced 1,214-amino acid protein shares significant similarity with rat Zeb1. RT-PCR analysis of human tissues detected highest ZEB2 expression in heart, brain, lung, placenta, and kidney, with moderate expression in ovary, skeletal muscle, liver, and small intestine.

Reference

"Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease."
Hum. Mol. Genet. 10:1503-1510(2001) [PubMed] [Europe PMC] [Abstract]

"Mutations in SIP1, encoding Smad interacting protein 1, cause a form of Hirschsprung disease."
Nat. Genet. 27:369-370(2001) [PubMed] [Europe PMC] [Abstract]

"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."
DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Selection system for genes encoding nuclear-targeted proteins."
Nat. Biotechnol. 16:1338-1342(1998) [PubMed] [Europe PMC] [Abstract]

"Pc2-mediated sumoylation of Smad-interacting protein 1 attenuates transcriptional repression of E-cadherin."
J. Biol. Chem. 280:35477-35489(2005) [PubMed] [Europe PMC] [Abstract]

"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Solution structure of the homeobox domain of zinc finger homeobox protein 1B (SMAD interacting protein 1)."
Submitted (DEC-2006) to the PDB data bank

"Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B."
Neurology 59:1637-1640(2002) [PubMed] [Europe PMC] [Abstract]

"Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21."
Am. J. Med. Genet. A 131:86-90(2004) [PubMed] [Europe PMC] [Abstract]

"A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype."
Am. J. Med. Genet. A 140:1223-1227(2006) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]