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FLASH GENE

Symbol

POF1B

contributors: - updated : 24-01-2013

HGNC name	premature ovarian failure, 1B
HGNC id	13711

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	POF2B premature ovarian failure, 2B
Location	Xq21.2      Physical location : 84.532.394 - 84.634.748
Synonym name	protein POF1B
Synonym symbol(s)	RP1-75N13.2, FLJ22792, POF, POF2B

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	102.35 kb     17 Exon(s)

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 NM_024921 17 - 3949 NP_079197 - 589 - 2007 17123869

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 intestine large intestine colon   highly   stomach       highly Respiratory respiratory tract trachea     highly Skin/Tegument skin         Homo sapiens Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory digestive epithelium (mucosa)     Homo sapiens Epithelial barrier lining epidermis stratum granulosum   Homo sapiens Epithelial barrier lining nasal epithelium     Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to murine Pof1b (88 pc)

Homologene

FAMILY

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	plasma membrane,junction,tight
	intracellular
	intracellular,nucleus
text	localisation of POF1B to tight junctions

basic FUNCTION	may be having a function in germ-cell division
	may act as an antiapoptosis factor, to slow down the process of germ-cell loss
	localisation of POF1B to tight junctions has a key role in the organisation of epithelial monolayers by regulating the actin cytoskeleton

CELLULAR PROCESS	cell life, antiapoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

POF2B

Susceptibility

Variant & Polymorphism

Candidate gene	candidate gene for premature ovarian failure (POF)
Marker
Therapy target

ANIMAL & CELL MODELS