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Aliases for NXNL1 Gene

Aliases for NXNL1 Gene

  • Nucleoredoxin Like 1 2 3 5
  • Rod-Derived Cone Viability Factor 2 3
  • Nucleoredoxin-Like Protein 1 3 4
  • Thioredoxin-Like Protein 6 3 4
  • Thioredoxin-Like 6 2 3
  • TXNL6 3 4
  • RDCVF 3

External Ids for NXNL1 Gene

Previous HGNC Symbols for NXNL1 Gene

  • TXNL6

Previous GeneCards Identifiers for NXNL1 Gene

  • GC19M017429
  • GC19M017566
  • GC19M017131

Summaries for NXNL1 Gene

Entrez Gene Summary for NXNL1 Gene

  • 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]

GeneCards Summary for NXNL1 Gene

NXNL1 (Nucleoredoxin Like 1) is a Protein Coding gene. Diseases associated with NXNL1 include Retinitis Pigmentosa and Bardet-Biedl Syndrome. An important paralog of this gene is NXNL2.

UniProtKB/Swiss-Prot for NXNL1 Gene

  • May play a role in cone cell viability, slowing down cone degeneration, does not seem to play a role in degenerating rods.

Additional gene information for NXNL1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NXNL1 Gene

Genomics for NXNL1 Gene

GeneHancer (GH) Regulatory Elements for NXNL1 Gene

Promoters and enhancers for NXNL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J017467 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 610.9 -8.9 -8886 4.7 SP1 CC2D1A ZFX MNT ZNF148 NKRF POLR2A MLLT1 GTF2F1 CSDE1 SLC27A1 NXNL1 CHERP MED26 ENSG00000268087 HAUS8 ENSG00000269578 IQCN GTPBP3 ENSG00000268743
GH19J017459 Enhancer 0.8 FANTOM5 607.8 +1.7 1688 0.1 ZSCAN21 YY1 SP7 ZBTB8A ZNF600 ZNF639 ZNF629 OSR2 RUNX3 TSHZ1 NXNL1 ENSG00000269035 GC19M017460 GC19M017461 SLC27A1 CPAMD8 ENSG00000269736
GH19J017460 Promoter 0.5 EPDnew 611.2 +0.0 8 0.1 NXNL1 ENSG00000269035 GC19M017460 GC19M017461 SLC27A1
GH19J017333 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 11.7 +124.9 124861 6.2 ZNF473 HDGF SP1 ZFX CC2D1A ELF3 ZKSCAN8 MNT SIX5 ZNF148 GTPBP3 ANO8 CHERP ENSG00000269578 ENSG00000268743 IQCN C19orf44 SIN3B ENSG00000267904 ENSG00000268087
GH19J017762 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 11.5 -301.7 -301667 1.2 SP1 CC2D1A CSDE1 ZNF384 KLF14 POLR2A RFX1 PRDM10 PKNOX1 ZNF24 FCHO1 MAP1S B3GNT3 INSL3 PLVAP NXNL1 F2RL3 GC19M017755 GC19P021491
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NXNL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NXNL1 gene promoter:
  • c-Myb
  • Egr-2
  • FOXO1
  • FOXO1a
  • MyoD
  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha2
  • Sp1

Genomic Locations for NXNL1 Gene

Genomic Locations for NXNL1 Gene
chr19:17,455,425-17,460,954
(GRCh38/hg38)
Size:
5,530 bases
Orientation:
Minus strand
chr19:17,566,234-17,571,763
(GRCh37/hg19)
Size:
5,530 bases
Orientation:
Minus strand

Genomic View for NXNL1 Gene

Genes around NXNL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NXNL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NXNL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NXNL1 Gene

Proteins for NXNL1 Gene

  • Protein details for NXNL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CM4-NXNL1_HUMAN
    Recommended name:
    Nucleoredoxin-like protein 1
    Protein Accession:
    Q96CM4
    Secondary Accessions:
    • Q0QD37

    Protein attributes for NXNL1 Gene

    Size:
    212 amino acids
    Molecular mass:
    23943 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NXNL1 Gene

Post-translational modifications for NXNL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NXNL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for NXNL1

No data available for DME Specific Peptides for NXNL1 Gene

Domains & Families for NXNL1 Gene

Gene Families for NXNL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NXNL1 Gene

Suggested Antigen Peptide Sequences for NXNL1 Gene

GenScript: Design optimal peptide antigens:
  • Thioredoxin-like protein 6 (NXNL1_HUMAN)
  • Thioredoxin-like 6 (Q0QD37_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96CM4

UniProtKB/Swiss-Prot:

NXNL1_HUMAN :
  • Belongs to the nucleoredoxin family.
Family:
  • Belongs to the nucleoredoxin family.
genes like me logo Genes that share domains with NXNL1: view

Function for NXNL1 Gene

Molecular function for NXNL1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in cone cell viability, slowing down cone degeneration, does not seem to play a role in degenerating rods.
genes like me logo Genes that share phenotypes with NXNL1: view

Animal Models for NXNL1 Gene

MGI Knock Outs for NXNL1:

Animal Model Products

CRISPR Products

miRNA for NXNL1 Gene

miRTarBase miRNAs that target NXNL1

Clone Products

  • Applied Biological Materials (abm): Clones for NXNL1 - Now 50% OFF >
  • * NXNL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * NXNL1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NXNL1 Gene

Localization for NXNL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NXNL1 Gene

Cell projection, cilium, photoreceptor outer segment.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NXNL1 gene
Compartment Confidence
nucleus 3
cytosol 2
extracellular 1
mitochondrion 0
peroxisome 0

Gene Ontology (GO) - Cellular Components for NXNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005640 nuclear outer membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NXNL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NXNL1 Gene

Pathways & Interactions for NXNL1 Gene

PathCards logo

SuperPathways for NXNL1 Gene

No Data Available

Interacting Proteins for NXNL1 Gene

Gene Ontology (GO) - Biological Process for NXNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045454 cell redox homeostasis IEA --
GO:0045494 photoreceptor cell maintenance IEA --
genes like me logo Genes that share ontologies with NXNL1: view

No data available for Pathways by source and SIGNOR curated interactions for NXNL1 Gene

Drugs & Compounds for NXNL1 Gene

No Compound Related Data Available

Transcripts for NXNL1 Gene

mRNA/cDNA for NXNL1 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(17) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for NXNL1 Gene

Nucleoredoxin-like 1:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for NXNL1 - Now 50% OFF >
  • * NXNL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * NXNL1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for NXNL1 Gene

No ASD Table

Relevant External Links for NXNL1 Gene

GeneLoc Exon Structure for
NXNL1
ECgene alternative splicing isoforms for
NXNL1

Expression for NXNL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NXNL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NXNL1 Gene

This gene is overexpressed in Adrenal (29.7), Retina (20.8), Kidney (8.3), and Islet of Langerhans (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NXNL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of NXNL1 Gene:

NXNL1

SOURCE GeneReport for Unigene cluster for NXNL1 Gene:

Hs.661836

Evidence on tissue expression from TISSUES for NXNL1 Gene

  • Eye(4.4)
genes like me logo Genes that share expression patterns with NXNL1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NXNL1 Gene

Orthologs for NXNL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NXNL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NXNL1 35 34
  • 98.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NXNL1 35 34
  • 87.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NXNL1 35 34
  • 86.6 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nxnl1 34
  • 81.58 (n)
mouse
(Mus musculus)
Mammalia Nxnl1 17 35 34
  • 80.18 (n)
oppossum
(Monodelphis domestica)
Mammalia NXNL1 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves NXNL1 35 34
  • 66.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NXNL1 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nxnl1 34
  • 61.55 (n)
zebrafish
(Danio rerio)
Actinopterygii nxnl1 34
  • 61.38 (n)
NXNL1 (1 of 2) 35
  • 50 (a)
OneToMany
NXNL1 (2 of 2) 35
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T20D4.7 35
  • 28 (a)
ManyToMany
Y52E8A.3 35
  • 28 (a)
ManyToMany
R05H5.3 35
  • 28 (a)
ManyToMany
T28A11.13 35
  • 27 (a)
ManyToMany
C35B1.5 35
  • 27 (a)
ManyToMany
trx-5 35
  • 26 (a)
ManyToMany
F29B9.5 35
  • 25 (a)
ManyToMany
C32D5.8 35
  • 25 (a)
ManyToMany
C30H6.8 35
  • 19 (a)
ManyToMany
trx-3 35
  • 19 (a)
ManyToMany
F17B5.1 35
  • 4 (a)
ManyToMany
T05F1.11 35
  • 4 (a)
ManyToMany
Species where no ortholog for NXNL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NXNL1 Gene

ENSEMBL:
Gene Tree for NXNL1 (if available)
TreeFam:
Gene Tree for NXNL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NXNL1: view image

Paralogs for NXNL1 Gene

Paralogs for NXNL1 Gene

(1) SIMAP similar genes for NXNL1 Gene using alignment to 1 proteins:

  • NXNL1_HUMAN
genes like me logo Genes that share paralogs with NXNL1: view

Variants for NXNL1 Gene

Sequence variations from dbSNP and Humsavar for NXNL1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000323488 -- 17,460,024(-) T/A intron_variant
rs1000934826 -- 17,462,757(-) C/T upstream_transcript_variant
rs1001023981 -- 17,460,238(-) C/T intron_variant
rs1001092077 -- 17,457,106(-) A/C intron_variant
rs1001564523 -- 17,457,331(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NXNL1 Gene

Variant ID Type Subtype PubMed ID
nsv833768 CNV loss 17160897

Variation tolerance for NXNL1 Gene

Residual Variation Intolerance Score: 81.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.51; 29.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NXNL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NXNL1
Human Gene Mutation Database (HGMD)
NXNL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NXNL1 Gene

Disorders for NXNL1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NXNL1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa
  • retinitis pigmentosa 1
bardet-biedl syndrome
  • biedl-bardet syndrome
leber congenital amaurosis
  • lca
- elite association - COSMIC cancer census association via MalaCards
Search NXNL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NXNL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NXNL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NXNL1 Gene

Publications for NXNL1 Gene

  1. Cell Signaling with Extracellular Thioredoxin and Thioredoxin-Like Proteins: Insight into Their Mechanisms of Action. (PMID: 29138681) Léveillard T … Aït-Ali N (Oxidative medicine and cellular longevity 2017) 2 3 58
  2. The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina. (PMID: 19843539) Reichman S … Léveillard T (Human molecular genetics 2010) 3 23 58
  3. BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. (PMID: 19402160) Bin J … Héon E (Human mutation 2009) 3 45 58
  4. Thioredoxin-like 6 protects retinal cell line from photooxidative damage by upregulating NF-kappaB activity. (PMID: 18474255) Wang XW … Ding JL (Free radical biology & medicine 2008) 3 23 58
  5. Mapping of transcription start sites of human retina expressed genes. (PMID: 17286855) Roni V … Wissinger B (BMC genomics 2007) 3 4 58

Products for NXNL1 Gene

Sources for NXNL1 Gene

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