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FLASH GENE

Symbol

NXNL1

contributors: mct - updated : 11-12-2015

HGNC name	nucleoredoxin-like 1
HGNC id	25179

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	19p13.11      Physical location : 17.566.235 - 17.571.725
Synonym name	thioredoxin-like 6
	rod-derived cone viability factor
Synonym symbol(s)	LOC115861, RDCVF, TXNL6

DNA

TYPE	functioning gene
STRUCTURE	5.49 kb     2 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_138454 2 - 948 NP_612463 23 212 - 2015 25415434 truncated form (RDCVF) that is a thioredoxin-like protein secreted by rods that promotes cone survival RDCVF gene therapy has potential for treating retinal degenerative disease RDCVFL - splicing - - - - 2015 25596499 thioredoxin enzyme that interacts with TAU through the thioredoxin RdCVFL, NXNL1 is part of an endogenous defense mechanism against photooxidative stress that is likely of great importance for human vision

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 Nervous brain         Homo sapiens Visual eye retina       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Visual bipolar cell Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

intraspecies

paralog to NXNL2

Homologene

FAMILY

nucleoredoxin family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria,outer
	intracellular,cytoplasm,organelle,membrane
	intracellular,nucleus

basic FUNCTION	thioredoxine-like protein bifunctional with an extracellular form involved in cone viability and the other having oxidoreductase activity
	protects retinal cells from photooxidative damage-induced apoptosis via upregulation of NF-kappaB activity
	trophic factor of the thioredoxins family that promotes the survival of cone photoreceptors
	clock- and light-dependent regulations of NXNL1, NXNL2 that may be part of a protective shield against photooxidative damage

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting CHX2 (regulates NHNL1 promoter activity in the inner retina)
	FLII is a novel NXN-binding partner (binds to NXN and other related proteins, such as Rod-derived cone viability factor (NXNL1)
	interacting with MSRA (critical role in MSRA repair of essential lens proteins under oxidative stress conditions and NXNL1 is important for MSRA defense protection against cataract)

cell & other

REGULATION

induced by

at high levels in lens epithelial cells exposed to H(2)O(2)-induced oxidative stress

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurosensorial visual retina administration of NXNL1 would maintain cones and central vision in most patients suffering from RP neurosensorial visual   therapeutic potential for the treatment of retinitis pigmentosa

ANIMAL & CELL MODELS

in the rd1 mouse, a model of RP, the expression by rods of the trophic factor NXNL1 is lost through their degeneration, but the reduction in its expression by bipolar cells results from a downregulation of its expression