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NYX nyctalopin [ Homo sapiens (human) ]

Gene ID: 60506, updated on 11-Jun-2021

Summary

Official Symbol
NYXprovided by HGNC
Official Full Name
nyctalopinprovided by HGNC
Primary source
HGNC:HGNC:8082
See related
Ensembl:ENSG00000188937 MIM:300278
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CLRP; NBM1; CSNB1; CSNB4; CSNB1A
Summary
The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq, Oct 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See NYX in Genome Data Viewer
Location:
Xp11.4
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (41447343..41475652)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (41306596..41334905)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 15, pseudogene Neighboring gene Sharpr-MPRA regulatory region 15169 Neighboring gene DEAD-box helicase 3 X-linked Neighboring gene GEMIN7 pseudogene 1 Neighboring gene calcium/calmodulin dependent serine protein kinase Neighboring gene RNA, U6 small nuclear 1321, pseudogene Neighboring gene YWHAZ pseudogene 10

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-01-22)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-01-22)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138447

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in response to stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
nyctalopin
Names
leucine-rich repeat protein

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.

Genomic

  1. NG_009112.1 RefSeqGene

    Range
    4884..33193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001378477.3NP_001365406.2  nyctalopin precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) and variant 1 both encode the same protein.
    Source sequence(s)
    Z93015
    Related
    ENSP00000367465.1, ENST00000378220.2
    Conserved Domains (5) summary
    smart00082
    Location:331365
    LRRCT; Leucine rich repeat C-terminal domain
    sd00031
    Location:323335
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:6382
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:61115
    LRR_8; Leucine rich repeat
    cd21340
    Location:150310
    PPP1R42; protein phosphatase 1 regulatory subunit 42
  2. NM_022567.3NP_072089.2  nyctalopin precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) and variant 2 both encode the same protein.
    Source sequence(s)
    Z93015
    Consensus CDS
    CCDS14256.1
    Related
    ENSP00000340328.2, ENST00000342595.2
    Conserved Domains (5) summary
    smart00082
    Location:331365
    LRRCT; Leucine rich repeat C-terminal domain
    sd00031
    Location:323335
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:6382
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:61115
    LRR_8; Leucine rich repeat
    cd21340
    Location:150310
    PPP1R42; protein phosphatase 1 regulatory subunit 42

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    41447343..41475652
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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