NXNL1 (nucleoredoxin like 1)

2011-05-01 Affiliation

Identity

HGNC

NXNL1

LOCATION

19p13.11

LOCUSID

115861

ALIAS

RDCVF,TXNL6

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 115861
MIM: 608791
HGNC: 25179
Ensembl: ENSG00000171773

Variants:

dbSNP: 115861
ClinVar: 115861
TCGA: ENSG00000171773
COSMIC: NXNL1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000171773	ENST00000301944	Q96CM4

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
15220920	2004	Identification and characterization of rod-derived cone viability factor.	126
25957687	2015	Rod-derived cone viability factor promotes cone survival by stimulating aerobic glycolysis.	87
19843539	2010	The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina.	19
19402160	2009	BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.	13
18474255	2008	Thioredoxin-like 6 protects retinal cell line from photooxidative damage by upregulating NF-kappaB activity.	8
21079812	2010	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.	6
20949100	2010	Expression of rod-derived cone viability factor: dual role of CRX in regulating promoter activity and cell-type specificity.	4
17249548	2006	Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.	1

Citation

Dessen P

NXNL1 (nucleoredoxin like 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-05-01

Online version: http://atlasgeneticsoncology.org/gene/52203/nxnl1