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FLASH GENE

Symbol

FAM161A

contributors: mct/pgu - updated : 19-12-2018

HGNC name	family with sequence similarity 161, member A
HGNC id	25808

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	RP28 retinitis pigmentosa 28
Location	2p15      Physical location : 62.051.984 - 62.081.278
Synonym name	hypothetical protein LOC84140
Synonym symbol(s)	FLJ13305, MGC129983, MGC129982

DNA

TYPE	functioning gene
STRUCTURE	29.29 kb     7 Exon(s)

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_032180 6 - 3692 NP_115556 76.8 660 - 2012 22791751 skipping of exon 4 NM_001201543 7 - 3777 NP_001188472 83 716 - 2012 22791751 contains a supplementary in-frame 168 bp exon between exons 3 and 4

EXPRESSION

Rna function	mRNA is developmentally regulated and controlled by the transcription factor CRX
Type

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 Nervous brain       moderately Reproductive male system testis     highly Respiratory lung       moderately Visual eye retina     predominantly Mus musculus

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Mus musculus Visual cone photoreceptor Mus musculus Visual ganglion cell Mus musculus Visual rod photoreceptor Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	localizes to photoreceptor cells during development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three conserved alpha-helical coiled-coil structural motifs
	evolutionarily conserved region in the C-terminal part, the so-called UPF0564 domain that consists of 400 AAs and can be found in various eukaryotic species
	C-terminal domain having a critical role for molecular interactions and integrity of the connecting cilium

HOMOLOGY

intraspecies

paralog to FAM161B

Homologene

FAMILY

FAM161 family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
text	located at the base of the photoreceptor connecting cilium, where it interacts with several other ciliopathy-associated proteins
	presence of FAM161A in the connecting cilium, the basal body and the adjacent centriole of photoreceptor cells and thus designate FAM161A as a novel ciliary protein
	localizes at the base of the photoreceptor connecting cilium

basic FUNCTION	retinal-ciliopathy-associated protein
	is a microtubule-associated ciliary protein presumably involved in microtubule stabilization to maintain the microtubule tracks and/or in transport processes along microtubules in photoreceptors and other retinal cell types
	possible function of FAM161 family members (FAM161A, FAM161B) in microtubule-network organization and centrosome biology
	may be a scaffolding protein that is important for microtubule stabilization and/or microtubule-based transport processes along cytoplasmic and ciliary microtubules
	is a novel centrosomal-ciliary protein that likely is implicated in the regulation of microtubule-based cellular processes in the retina
	is required for the molecular delivery into the outer segment cilium, a function which is essential for outer segment disk formation and ultimately visual function
	is important for normal photoreceptor structure and survival
	basal body protein photoreceptor module that contains POC1B and FAM161A and is required for photoreceptor homeostasis
	its activities are probably not limited to ciliary tasks but also extend to more general cellular functions
	ciliary genes FAM161A and TTC8 have been implicated in retinal degeneration (RD)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	FAM161A interacts with FAM161B
	direct interaction with lebercilin (LCA5), CEP290, OFD1 and SDCCAG8, all involved in hereditary retinal degeneration

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RP28

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS