NXNL1 nucleoredoxin like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NXNL1provided by HGNC
Official Full Name: nucleoredoxin like 1provided by HGNC
Primary source: HGNC:HGNC:25179
See related: Ensembl:ENSG00000171773 MIM:608791; AllianceGenome:HGNC:25179
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RDCVF; TXNL6
Summary: Retinitis pigmentosa (RP) is a disease that leads to blindness by degeneration of cone photoreceptors. Rods produce factors required for cone viability. The protein encoded by this gene is one of those factors and is similar to a truncated form of thioredoxin. This gene has been proposed to have therapeutic value against RP. [provided by RefSeq, Dec 2015]
Expression: Biased expression in fat (RPKM 1.0) and adrenal (RPKM 0.2) See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (17455425..17460926, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (17590193..17595708, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (17566234..17571735, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study shows that RdCVF acts through binding to Basigin-1 (BSG1), a transmembrane protein expressed specifically by photoreceptors. BSG1 binds to the glucose transporter GLUT1, resulting in increased glucose entry into cones.
Title: Rod-derived cone viability factor promotes cone survival by stimulating aerobic glycolysis.
Data suggest a critical role for TXNL6 in MsrA repair of essential lens proteins under oxidative stress conditions and that TXNL6 is important for MsrA defense protection against cataract.
Title: TXNL6 is a novel oxidative stress-induced reducing system for methionine sulfoxide reductase a repair of α-crystallin and cytochrome C in the eye lens.
regulation of the Nucleoredoxin-like genes involves a CRX responsive element that can act as both as a positive regulator of promoter activity and as a modulator of cell-type specificity
Title: Expression of rod-derived cone viability factor: dual role of CRX in regulating promoter activity and cell-type specificity.
CHX10 regulates RdCVF promoter activity in the inner retina.
Title: The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina.
Observational study of gene-disease association. (HuGE Navigator)
Title: BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
TXNL6 probably protects retinal cells from photooxidative damage-induced apoptosis via upregulation of NF-kappaB activity
Title: Thioredoxin-like 6 protects retinal cell line from photooxidative damage by upregulating NF-kappaB activity.
RdCVF variants have roles in leber congenital amaurosis
Title: Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.
is a truncated thioredoxin-like protein specifically expressed by photoreceptors. The identification of this protein offers new treatment possibilities for retinitis pigmentosa
Title: Identification and characterization of rod-derived cone viability factor.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor ligand activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in photoreceptor cell maintenance	IDA Inferred from Direct Assay more info	PubMed
involved_in photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: nucleoredoxin-like protein 1

Names: rod-derived cone viability factor; thioredoxin-like 6; thioredoxin-like protein 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_138454.2 → NP_612463.1 nucleoredoxin-like protein 1

See identical proteins and their annotated locations for NP_612463.1

Status: REVIEWED

Source sequence(s)

AC010319, BC014127

Consensus CDS

CCDS12360.1

UniProtKB/Swiss-Prot

Q0QD37, Q96CM4

Related

ENSP00000305631.2, ENST00000301944.3

Conserved Domains (1) summary

cd03008
Location:8 → 153

TryX_like_RdCVF; Tryparedoxin (TryX)-like family, Rod-derived cone viability factor (RdCVF) subfamily; RdCVF is a thioredoxin (TRX)-like protein specifically expressed in photoreceptors. RdCVF was isolated and identified as a factor that supports cone survival in retinal ...