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FLASH GENE

Symbol

POU3F1

contributors: mct/npt - updated : 16-07-2008

HGNC name	POU class 3 homeobox 1
HGNC id	9214

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1p34.1      Physical location : 38.509.522 - 38.512.450
Synonym name	POU domain, class 3, transcription factor 1
	octamer-binding transcription factor 6
	POU domain transcription factor SCIP
Synonym symbol(s)	OTF6, OCT6, SCIP

DNA

TYPE	functioning gene
STRUCTURE	2.00 kb     1 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed POU3F1 1 - 2928 - 451 - Ryu (2007)

EXPRESSION

Type	restricted

constitutive of

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 Hearing/Equilibrium ear         Nervous brain         Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic mature hematopoietic

cell lineage
cell lines	leukemia cells
fluid/secretion

at STAGE

physiological period

embryo

Text	embryonal stem cells, developing brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

POU specific and POU homeo (helix-turn-helix) domains

mono polymer

homomer , heteromer , dimer

HOMOLOGY

interspecies	homolog to murine Pou3f.1
	homolog to C.elegans k02b12.1

intraspecies

homolog to POU3F4

Homologene

FAMILY	POU transcription factor family
	class-3 subfamily

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in early embryogenesis and neurogenesis
	playing a critical role in the cellular uptake and efflux of endogenous cationic substrates and hydrophilic exogenous xenobiotics
	important regulator of peripheral nerve myelination by Schwann cells

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

POU specific and POU homeo (helix-turn-helix) domains, forming homo or heterodimers

INTERACTION

DNA	binding to the octamer motif ATTTGCAT

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   results in peripheral nerve hypomyelination and axonal loss

Susceptibility

Variant & Polymorphism

Candidate gene	may be a marker for dedifferentiation of adult Schwann cells and active nerve regeneration
Marker
Therapy target

ANIMAL & CELL MODELS

OCT 6-/- mice (Jaegle, 96)