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FLASH GENE

Symbol

FAF1

contributors: mct - updated : 08-12-2010

HGNC name	Fas (TNFRSF6) associated factor 1
HGNC id	3578

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1p32.3      Physical location : 50.906.934 - 51.425.936
Synonym name	TNFRSF6-associated factor 1
	UBX domain protein 3A
	UBX domain-containing protein 12
Synonym symbol(s)	CGI-03, FLJ37524, HFAF1s, hFAF1, UBXD12, UBXN3A

DNA

TYPE	functioning gene
STRUCTURE	519.00 kb     19 Exon(s)

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

MAPPING

cloned

Y

linked

status

provisional

Physical map

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_007051 19 - 2610 NP_008982 - 650 - 2005 15743842

EXPRESSION

Type	ubiquitous

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 Cardiovascular heart         Endocrine thyroid       highly Lymphoid/Immune tonsils       highly Reproductive female system ovary     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	highly expressed in several areas of the developing telencephalon

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal ubiquitin homology domain (UBA), putatively binding to the DEATH domain of TNFRSF6
	C-terminal UBX domain

HOMOLOGY

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus

basic FUNCTION	potentiates but cannot initiate FAS-induced apoptosis
	initiation of apoptosis requires a ubiquitin-like domain but not the FAS-binding domain
	may serve as a scaffolding protein that regulates protein degradation in the ubiquitin-proteasome pathway
	able to potentiate Fas-induced apoptosis in several cell lines
	may serve as a scaffolding protein that regulates protein degradation in the ubiquitin-proteasome pathway
	Fas-binding pro-apoptotic protein, component of the death-inducing signaling complex (DISC) in Fas-mediated apoptosis
	in neural cell death acts as a Fas-independent apoptotic enhancer
	multifunctional pro-apoptotic protein that is involved in Fas-mediated apoptosis, NF-kappaB signalling and the ubiquitin-proteasome pathway
	regulator of cranial neural crest differentiation
	plays a role in the etiopathogenesis of cleft palate and is a key molecule in development
	key player in jaw development and that disruptions in this gene are associated with orofacial abnormalities
	negative regulator of Wnt/Beta-catenin signaling

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

ubiquitin-proteasome pathway

a component

member of the Fas death-inducing signaling complex

INTERACTION

DNA

RNA

small molecule

protein	specifically interacts with the cytoplasmic domain of FAS
	interact with caspase-8 and FADD
	with VCP, multiubiquitin chain-targeting factor in the degradation of the ubiquitin-proteasome pathway, via the C-terminal UBX domain, and associated with the ubiquitinated proteins via the newly identified N-terminal UBA domain
	interacts with heat shock protein 70 and negatively regulates chaperone activity
	phosphorylated by CK2 (influences its transport into the nucleus)
	interacts with IKBKB in response to proinflammatory stimuli (such as tumor necrosis factor-alpha, interleukin-1beta, and lipopolysaccharide) and suppresses IKK activation
	binds to the N domain of VCP, a molecular chaperone that acts in complex with the proteasome, through its C-terminal UBX domain and inhibits the proteasomal protein-degradation process
	interact with CTNNB1 upon inhibition of proteasome

cell & other

REGULATION

inhibited by

during apoptosis in a caspase- and APAF1-dependent manner

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   specifically in gastric carcinomas contained signet ring cells constitutional     --over   significantly increased in frontal cortex of Parkinson disease as well as in Parkinson disease cases with Alzheimer's disease (AD) pathology compared to control case constitutional     --low   in sporadic cleft palate patients (lack of Faf1 may disrupt chondrogenesis by altering differentiation of cranial neural crest cells derived from the first pharyngeal arch)

Susceptibility

to Crohn disease to cleft palate

Variant & Polymorphism other	Crohn disease-associated polymorphisms play a role in disease progression and might be useful in identifying patients who could benefit from an early top-down treatment approach
	variant increasing the risk of cleft palate

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS