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Aliases for NXNL1 Gene

Aliases for NXNL1 Gene

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

No data available for 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
GH19F017340 1.2 Ensembl ENCODE 11.1 +120.1 120096 1.6 ELF3 KLF17 ARID4B NFXL1 THRB ZNF48 ZBTB40 RAD21 RARA SLC30A9 ABHD8 MRPL34 PLVAP MVB12A BST2 NXNL1 ANKLE1 CHERP GTPBP3 ENSG00000269350
GH19F017466 1.2 Ensembl ENCODE 11 -5.5 -5548 1.0 HDGF ATF1 PKNOX1 KLF17 ZSCAN9 ZNF2 RAD21 ZNF366 ZNF143 CREM NXNL1 SLC27A1 GC19M017460 GC19M017461
GH19F017467 1.1 ENCODE 10.9 -8.9 -8887 4.7 HDGF ATF1 PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A ZNF48 GLIS2 SLC27A1 ENSG00000269439 NXNL1 MVB12A USE1 PIR43275
GH19F017762 0.9 ENCODE 11.5 -301.8 -301757 1.1 YBX3 HDGF HDAC1 ATF1 PKNOX1 SIN3A BMI1 ZNF2 RFX5 ZNF335 MAP1S B3GNT3 INSL3 PLVAP NXNL1 F2RL3 GC19M017755 GC19P019215
GH19F017453 0.8 ENCODE 10.9 +7.3 7338 0.2 CTCF CBX3 WRNIP1 MAX CDC5L RAD21 ZNF547 EED ZNF143 SMC3 NXNL1 ENSG00000269736 ENSG00000269035
- 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

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 :
  • Contains 1 thioredoxin domain.
  • Belongs to the nucleoredoxin family.
Domain:
  • Contains 1 thioredoxin domain.
Family:
  • Belongs to the nucleoredoxin family.
genes like me logo Genes that share domains with NXNL1: view

No data available for Gene Families for NXNL1 Gene

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

miRNA for NXNL1 Gene

miRTarBase miRNAs that target NXNL1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

Pathways & Interactions for NXNL1 Gene

SuperPathways for NXNL1 Gene

No Data Available

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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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
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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 98.55 (n)
dog
(Canis familiaris)
Mammalia NXNL1 34 35
  • 87.79 (n)
cow
(Bos Taurus)
Mammalia NXNL1 34 35
  • 86.6 (n)
rat
(Rattus norvegicus)
Mammalia Nxnl1 34
  • 81.58 (n)
mouse
(Mus musculus)
Mammalia Nxnl1 34 16 35
  • 80.18 (n)
oppossum
(Monodelphis domestica)
Mammalia NXNL1 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves NXNL1 34 35
  • 66.84 (n)
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 R05H5.3 35
  • 28 (a)
ManyToMany
T20D4.7 35
  • 28 (a)
ManyToMany
Y52E8A.3 35
  • 28 (a)
ManyToMany
C35B1.5 35
  • 27 (a)
ManyToMany
T28A11.13 35
  • 27 (a)
ManyToMany
trx-5 35
  • 26 (a)
ManyToMany
C32D5.8 35
  • 25 (a)
ManyToMany
F29B9.5 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)

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
rs10402938 -- 17,456,371(+) gtagt(C/G)ccagg intron-variant
rs10408265 -- 17,455,801(+) GGAAG(C/T)TGCGG reference, missense
rs10426993 -- 17,456,110(+) GGACA(A/G)GGCCA intron-variant
rs111578010 -- 17,455,970(+) GAGCG(A/G)GCAGG intron-variant
rs111821779 -- 17,455,098(+) TCCGC(C/T)GGGGC downstream-variant-500B

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. … LAcveillard T. (Hum. Mol. Genet. 2010) 3 22 64
  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. … HAcon E. (Hum. Mutat. 2009) 3 46 64
  3. Thioredoxin-like 6 protects retinal cell line from photooxidative damage by upregulating NF-kappaB activity. (PMID: 18474255) Wang X.W. … Ding J.L. (Free Radic. Biol. Med. 2008) 3 22 64
  4. Mapping of transcription start sites of human retina expressed genes. (PMID: 17286855) Roni V. … Wissinger B. (BMC Genomics 2007) 3 4 64
  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. (Adv. Exp. Med. Biol. 2006) 3 22 64

Products for NXNL1 Gene

Sources for NXNL1 Gene

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