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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
  • Thioredoxin-Like Protein 6 3 4
  • Thioredoxin-Like 6 2 3
  • TXNL6 3 4
  • Nucleoredoxin-Like Protein 1 3
  • 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

Regulatory Elements for NXNL1 Gene

Enhancers for NXNL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H017762 1.4 Ensembl ENCODE dbSUPER 11.5 -301.8 -301757 1 HDAC1 YBX3 HDGF PKNOX1 BMI1 RFX5 ZNF366 RCOR1 FOS SP3 MAP1S B3GNT3 INSL3 PLVAP NXNL1 F2RL3 GC19M017755 GC19P019904
GH19H017340 1.4 Ensembl ENCODE dbSUPER 11.2 +120.1 120096 1 ELF3 ARID4B KLF17 THRB RAD21 RARA SLC30A9 ATF7 MIXL1 THAP11 ABHD8 MRPL34 PLVAP MVB12A BST2 NXNL1 ANKLE1 CHERP GTPBP3 ENSG00000269350
GH19H017467 1.3 ENCODE dbSUPER 10.9 -8.9 -8887 4 HDGF PKNOX1 ATF1 ZFP64 ARID4B SIN3A ZNF766 GLIS2 ZNF143 ZNF207 CHERP ENSG00000268087 HAUS8 ENSG00000269578 KIAA1683 MED26 GTPBP3 SLC27A1 ENSG00000268743 ENSG00000269427
GH19H017466 1.2 Ensembl ENCODE 11 -5.6 -5613 0 HDAC1 ATF1 RB1 ARNT KLF17 ZNF2 ZSCAN9 RAD21 ZNF366 ZNF143 NXNL1 SLC27A1 GC19M017461 GC19M017460
GH19H017472 1.3 Ensembl ENCODE dbSUPER 7.6 -12.2 -12185 1 BCOR HDAC1 CTCF LEF1 ATF1 JUN ZMYM3 MAX FOSL1 TCF12 CHERP SLC27A1 ENSG00000269578 MVB12A ENSG00000268087 GTPBP3 ENSG00000267904 HAUS8 SLC35E1 KIAA1683
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NXNL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NXNL1 Gene

Chromosome:
19
Start:
17,455,425 bp from pter
End:
17,460,954 bp from pter
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:

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

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.

Gene Ontology (GO) - Molecular Function for NXNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004791 thioredoxin-disulfide reductase activity IBA --
genes like me logo Genes that share ontologies with NXNL1: view
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NXNL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Nucleus outer membrane.

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 4
mitochondrion 3
extracellular 2
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for NXNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005640 nuclear outer membrane IEA --
GO:0005737 cytoplasm IBA --
GO:0005739 mitochondrion 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

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 --
GO:0098869 cellular oxidant detoxification 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 where relevant :

Unigene Clusters for NXNL1 Gene

Nucleoredoxin-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NXNL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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

Primer Products

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 33 34
  • 98.55 (n)
dog
(Canis familiaris)
Mammalia NXNL1 33 34
  • 87.79 (n)
cow
(Bos Taurus)
Mammalia NXNL1 33 34
  • 86.6 (n)
rat
(Rattus norvegicus)
Mammalia Nxnl1 33
  • 81.58 (n)
mouse
(Mus musculus)
Mammalia Nxnl1 33 16 34
  • 80.18 (n)
oppossum
(Monodelphis domestica)
Mammalia NXNL1 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves NXNL1 33 34
  • 66.84 (n)
lizard
(Anolis carolinensis)
Reptilia NXNL1 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nxnl1 33
  • 61.55 (n)
zebrafish
(Danio rerio)
Actinopterygii nxnl1 33
  • 61.38 (n)
NXNL1 (1 of 2) 34
  • 50 (a)
OneToMany
NXNL1 (2 of 2) 34
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R05H5.3 34
  • 28 (a)
ManyToMany
T20D4.7 34
  • 28 (a)
ManyToMany
Y52E8A.3 34
  • 28 (a)
ManyToMany
C35B1.5 34
  • 27 (a)
ManyToMany
T28A11.13 34
  • 27 (a)
ManyToMany
trx-5 34
  • 26 (a)
ManyToMany
C32D5.8 34
  • 25 (a)
ManyToMany
F29B9.5 34
  • 25 (a)
ManyToMany
C30H6.8 34
  • 19 (a)
ManyToMany
trx-3 34
  • 19 (a)
ManyToMany
F17B5.1 34
  • 4 (a)
ManyToMany
T05F1.11 34
  • 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)

Paralogs for NXNL1 Gene

Paralogs for NXNL1 Gene

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

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 Sequence Context AA Info Type
rs1000323488 -- 17,460,024(+) TTTGA(A/T)TTTTT intron-variant
rs1000934826 -- 17,462,757(+) TTCAG(C/T)GTCCC upstream-variant-2KB
rs1001023981 -- 17,460,238(+) ACTCC(C/T)GACCT intron-variant
rs1001092077 -- 17,457,106(+) AAAAA(A/C)AAAAT intron-variant
rs1001564523 -- 17,457,331(+) TACTT(A/C)TACTA 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)

Relevant External Links for NXNL1 Gene

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

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

Relevant External Links for NXNL1

Genetic Association Database (GAD)
NXNL1
Human Genome Epidemiology (HuGE) Navigator
NXNL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NXNL1
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. The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina. (PMID: 19843539) Reichman S … Léveillard T (Human molecular genetics 2010) 3 22 60
  2. 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 60
  3. 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 22 60
  4. Mapping of transcription start sites of human retina expressed genes. (PMID: 17286855) Roni V … Wissinger B (BMC genomics 2007) 3 4 60
  5. Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA. (PMID: 17249548) Hanein S … Leveillard T (Advances in experimental medicine and biology 2006) 3 22 60

Products for NXNL1 Gene

Sources for NXNL1 Gene

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