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FLASH GENE

Symbol

OFD1

contributors: mct - updated : 24-05-2015

HGNC name	oral-facial-digital syndrome 1
HGNC id	2567

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003611 23 - 3654 NP_003602 116 1011 - 2007 17761535 variant 1 - splicing 4278 isoform 1 - 367 not expressed in skeletal muscle and heart 1998 9722947 also called CXorf5.2 insertion 663bp leading to a frameshift

EXPRESSION

Type

widely

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         Digestive liver         Endocrine pancreas         Nervous brain         Respiratory lung         Urinary kidney nephron     highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	renal mesenchymal cells

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N-terminal LISH motif
	a large number of coiled-coil alpha-helical domains

HOMOLOGY

interspecies

homolog to murine Ofd1

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus
text	pericentriolar localization, in the basal body in primary cilia
	localizes both to the primary cilium and to the nucleus
	not exclusively localized to the centrosome and basal body, but is present also in the nucleus

basic FUNCTION	may play a role in differentiation of metanephric precursor cell
	may have a role beyond primary cilium organization and assembly and in left-right axis specification
	playing roles not only in microtubule organization (centrosomal function) but also in mechanosensation of urine flow (a primary ciliary function)
	able to self-associate and this interaction is mediated by its coiled-coil rich region
	may be part of a multi-protein complex and could play different biological functions in the centrosome-primary cilium organelles as well as in the nuclear compartment
	necessary for correct ciliogenesis in the limb bud but not for cilia outgrowth, in contrast to what was previously shown for the embryonic node
	plays a role in regulating digit number and identity during limb and skeletal patterning increasing insight on the functional role of primary cilia during development
	plays a crucial role in forebrain development, and in particular, in the control of dorso-ventral patterning and early corticogenesis
	functions after docking and before elaboration of the axoneme
	at centriolar satellites functions as a crucial suppressor of primary ciliogenesis in human cancer cells
	at centriolar satellites has a crucial role in suppressing primary ciliogenesis, whereas OFD1 at centrioles has been shown to be essential for primary ciliogenesis
	BBS4 and OFD1 interacted with proteasomal subunits, and loss of either BBS4 or OFD1 led to depletion of multiple subunits from the centrosomal proteasome
	OFD1 and FOPNL are known to regulate the integrity of the centriole distal end, confirming that this structural element is a target of importance for pathogenic mutations in ciliopathies

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	directly binds to the ciliary protein lebercilin, encoded by LCA5
	interacting with RUVBL1
	direct interaction of FAM161A with lebercilin (LCA5), CEP290, OFD1 and SDCCAG8, all involved in hereditary retinal degeneration
	localizes to centriolar satellites, interacting with proteins associated with human ciliary disease, PCM1, CEP290 and BBS4
	C2CD3 physically associates with OFD1
	KIAA0753vdirectly interacts with OFD1 in the absence of FOPNL, but the interaction between KIAA0753 and OFD1 is much stronger when FOPNL is present in the complex
	SDCCAG8 interacts with proteins of the centriolar satellites (OFD1, AZI1), of the endosomal sorting complex (RABEP2, ERC1), and with non-muscle myosin motor proteins (MYH9, MYH10, MYH14) at the centrosome

cell & other

REGULATION

Other

escaping X-inactivation

ASSOCIATED DISORDERS

corresponding disease(s)

OFD1 , JBTS10 , SGBS2 , RP23

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       gain of function loss of BBS4 or OFD1 results in the accumulation of signaling mediators normally targeted for proteasomal degradation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	animal model which could represent a valuable tool to shed light on the molecular link between mTOR and cysts development and eventually to the identification of novel drug targets for renal cystic disease
	in autophagy-deficient Atg5 or Atg3 null mouse embryonic fibroblasts, Ofd1 accumulates at centriolar satellites, leading to fewer and shorter primary cilia and a defective recruitment of Bbs4 (Bardet–Biedl syndrome 4) to cilia