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FLASH GENE

Symbol

SP6

contributors: mct/npt - updated : 28-03-2014

HGNC name	Sp6 transcription factor
HGNC id	14530

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	17q21.32      Physical location : 45.922.279 - 45.933.240
Synonym name	Kruppel-like factor 14
	epiprofin
Synonym symbol(s)	EPFN, EPIPROFIN, KLF14, MGC119662, MGC119663, MGC119664, MGC119665

DNA

TYPE	functioning gene
STRUCTURE	10.96 kb     2 Exon(s)

text structure	exon 1 containing a potential ATG translation initiator codon and an upstream TATAA box
	exon 2 containing a second potential ATG start codon

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	uses two promoters, generating two transcript variants which differ in their first exon (PMID: 17624655 )

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_199262 2 - 3794 NP_954871 - 376 - Nakamura (2004)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth tooth       Homo sapiens Nervous nerve         Reproductive female system placenta       Skin/Tegument skin appendages hair follicle     Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	epithelium of developing teeth, hair follicles, and limb buds
	expressed in the limb ectoderm

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	maybe a putative N terminal proline-rich domain
	a buttonhead (BTD) box CXCPXC, just N-terminal to the zinc fingers
	3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif)
	three Sp-1-like zinc finger motifs at the C terminus

HOMOLOGY

intraspecies

homolog to SP2

Homologene

FAMILY

SP/XKLF transcriptions factor family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	highly cell- and tissue-specific nuclear protein expressed primarily by proliferating epithelial cells of teeth, hair follicles, and limbs that may function in the development of these tissues by regulating cell growth
	having multiple functions for cell fate determination of the dental epithelium by regulating both proliferation and differentiation, preventing continuous tooth budding and generation
	essential regulator for branching of tooth buds to form the proper number of teeth and for differentiation of the dental epithelium and mesenchyme
	has multiple functions for cell fate determination of the dental epithelium by regulating both proliferation and differentiation, preventing continuous tooth budding and generation
	very likely functions as a modulator of WNT signaling in the limb ectoderm
	regulate cell proliferation in a cell-type-specific manner

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule	other,
	bind to GC-rich sequences and related GT and CACCC boxes

protein	follistatin gene is one of the SP6 target genes in ameloblasts, suggesting that SP6 promotes amelogenesis through inhibition of follistatin gene expression
	BCL11B binds to the SP6 promoter, and regulates SP6 gene expression through direct binding to the SP6 second promoter region

cell & other

REGULATION

Other	controlled by WNT/CTNNB signaling in the limb ectoderm
	regulation of SP6 protein stability is one of the crucial steps in amelogenesis

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS