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Rs1 retinoschisis (X-linked, juvenile) 1 (human) [ Mus musculus (house mouse) ]

Gene ID: 20147, updated on 19-Sep-2014
Official Symbol
Rs1provided by MGI
Official Full Name
retinoschisis (X-linked, juvenile) 1 (human)provided by MGI
Primary source
MGI:MGI:1336189
Locus tag
RP23-213O8.1
See related
Ensembl:ENSMUSG00000031293; Vega:OTTMUSG00000019592
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Rs1h; Xlrs1; tmgc1
Location:
X F4; X 73.95 cM
Exon count:
6
Annotation release Status Assembly Chr Location
104 current GRCm38.p2 (GCF_000001635.22) X NC_000086.7 (160768013..160799663)

Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene protein phosphatase with EF hand calcium-binding domain 1 Neighboring gene nuclear encoded tRNA valine 23 (anticodon TAC) Neighboring gene cyclin-dependent kinase-like 5 Neighboring gene gap junction protein, alpha 6 Neighboring gene sex comb on midleg-like 2 (Drosophila)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1) 
  • Targeted (2)  1 citation

Markers

Homology

Gene Ontology Provided by MGI

Process Evidence Code Pubs
adaptation of rhodopsin mediated signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
retina layer formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
retinoschisin
Names
retinoschisin
retinoschisis 1 homolog
X-linked juvenile retinoschisis protein homolog

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_011302.3NP_035432.3  retinoschisin precursor

    See proteins identical to NP_035432.3

    Status: VALIDATED

    Source sequence(s)
    BC046422
    Consensus CDS
    CCDS30505.1
    UniProtKB/Swiss-Prot
    Q9Z1L4
    Related
    ENSMUSP00000033650, OTTMUSP00000021167, ENSMUST00000033650, OTTMUST00000046804
    Conserved Domains (1) summary
    cd00057
    Location:68217
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 104

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

Reference GRCm38.p2 C57BL/6J

Genomic

  1. NC_000086.7 

    Range
    160768013..160799663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Mm_Celera

Genomic

  1. AC_000042.1 

    Range
    144007814..144039864
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)