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Nyx nyctalopin [ Mus musculus (house mouse) ]

Gene ID: 236690, updated on 27-Nov-2024

Summary

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Official Symbol
Nyxprovided by MGI
Official Full Name
nyctalopinprovided by MGI
Primary source
MGI:MGI:2448607
See related
Ensembl:ENSMUSG00000051228 AllianceGenome:MGI:2448607
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
nob; CLNP; CSNB1; CSNB4
Summary
Acts upstream of or within visual perception. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix and extracellular space. Used to study congenital stationary night blindness 1A. Human ortholog(s) of this gene implicated in congenital stationary night blindness 1A and night blindness. Orthologous to human NYX (nyctalopin). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in ovary adult (RPKM 1.1), testis adult (RPKM 0.7) and 21 other tissues See more
Orthologs
human all
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Genomic context

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See Nyx in Genome Data Viewer
Location:
X A1.1; X 8.37 cM
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (13327097..13359059)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (13461090..13492820)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_46795 Neighboring gene predicted gene 4728 Neighboring gene ribosomal protein L10A pseudogene Neighboring gene STARR-seq mESC enhancer starr_46797 Neighboring gene predicted gene 14506 Neighboring gene calcium/calmodulin dependent serine protein kinase Neighboring gene predicted gene, 34836 Neighboring gene G protein-coupled receptor 34

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. A naturally occurring mouse model of X-linked congenital stationary night blindness. Pardue MT, et al. Invest Ophthalmol Vis Sci, 1998 Nov. PMID 9804152
  2. Temporal properties of the mouse cone electroretinogram. Krishna VR, et al. J Neurophysiol, 2002 Jan. PMID 11784728
  3. Early Functional and Morphologic Abnormalities in the Diabetic Nyxnob Mouse Retina. Tarchick MJ, et al. Invest Ophthalmol Vis Sci, 2016 Jun 1. PMID 27367517, Free PMC Article
  4. Refractive index measurement of the mouse crystalline lens using optical coherence tomography. Chakraborty R, et al. Exp Eye Res, 2014 Aug. PMID 24939747, Free PMC Article
  5. Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina. Pesch K, et al. Invest Ophthalmol Vis Sci, 2003 May. PMID 12714669

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. murine nyctalopin is anchored to the plasma membrane by a single transmembrane domain, such that the leucin-rich repeat domain is located in the extracellular space.
    Title: Topological analysis of small leucine-rich repeat proteoglycan nyctalopin.
  2. The results of this study suggested that the nyctalopin is acting as an accessory TRP channel subunit critical for proper channel localization to the synapse.
    Title: A role for nyctalopin, a small leucine-rich repeat protein, in localizing the TRP melastatin 1 channel to retinal depolarizing bipolar cell dendrites.
  3. No differences in nob mice and carriers suggesting equal susceptibility to light-induced photoreceptor degeneration.
    Title: The nob mutation does not protect against light-induced retinal degeneration.
  4. These data suggest an important function of the Nyx protein in the inner retina and provide evidence that CSNB1 is based on a defect in the inner retinal circuitry.
    Title: Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina.
  5. Human and mouse nyctalopin are membrane-bound extracellular proteins and are functionally conserved.
    Title: NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein.
  6. Absence of nyctalopin does not disrupt the expression pattern of other proteins known to be required for synaptic transmission.
    Title: Immunohistochemical analysis of the outer plexiform layer in the nob mouse shows no abnormalities.
  7. The nob phenotype is caused by an 85-bp deletion in the mouse nyx gene, which encodes the nyctalopin protein.
    Title: Identification of the gene and the mutation responsible for the mouse nob phenotype.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Spontaneous (1)  1 citation

General gene information

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Homology

Clone Names

  • MGC38926

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within visual perception IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
nyctalopin
Names
no b wave

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)

  1. NM_173415.5 → NP_775591.1  nyctalopin precursor

    See identical proteins and their annotated locations for NP_775591.1

    Status: VALIDATED

    Source sequence(s)
    AI661272, AK031854, BC035244
    Consensus CDS
    CCDS40877.1
    UniProtKB/Swiss-Prot
    P83503, Q8BYN4
    Related
    ENSMUSP00000056313.6, ENSMUST00000050434.6
    Conserved Domains (6) summary
    smart00013
    Location:25 → 56
    LRRNT; Leucine rich repeat N-terminal domain
    smart00082
    Location:331 → 366
    LRRCT; Leucine rich repeat C-terminal domain
    sd00031
    Location:299 → 322
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:63 → 82
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:250 → 309
    LRR_8; Leucine rich repeat
    cl39015
    Location:68 → 312
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    13327097..13359059
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006527613.5 → XP_006527676.1  nyctalopin isoform X1

    See identical proteins and their annotated locations for XP_006527676.1

    UniProtKB/Swiss-Prot
    P83503, Q8BYN4
    Conserved Domains (6) summary
    smart00013
    Location:25 → 56
    LRRNT; Leucine rich repeat N-terminal domain
    smart00082
    Location:331 → 366
    LRRCT; Leucine rich repeat C-terminal domain
    sd00031
    Location:299 → 322
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:63 → 82
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:250 → 309
    LRR_8; Leucine rich repeat
    cl39015
    Location:68 → 312
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

  2. XM_030251314.2 → XP_030107174.1  nyctalopin isoform X1

    UniProtKB/Swiss-Prot
    P83503, Q8BYN4
    Conserved Domains (6) summary
    smart00013
    Location:25 → 56
    LRRNT; Leucine rich repeat N-terminal domain
    smart00082
    Location:331 → 366
    LRRCT; Leucine rich repeat C-terminal domain
    sd00031
    Location:299 → 322
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:63 → 82
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:250 → 309
    LRR_8; Leucine rich repeat
    cl39015
    Location:68 → 312
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

  3. XM_006527614.5 → XP_006527677.1  nyctalopin isoform X1

    See identical proteins and their annotated locations for XP_006527677.1

    UniProtKB/Swiss-Prot
    P83503, Q8BYN4
    Conserved Domains (6) summary
    smart00013
    Location:25 → 56
    LRRNT; Leucine rich repeat N-terminal domain
    smart00082
    Location:331 → 366
    LRRCT; Leucine rich repeat C-terminal domain
    sd00031
    Location:299 → 322
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:63 → 82
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:250 → 309
    LRR_8; Leucine rich repeat
    cl39015
    Location:68 → 312
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P83503.1 GenPept UniProtKB/Swiss-Prot:P83503

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