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Rs1 Gene Detail
Summary
  • Symbol
    Rs1
  • Name
    retinoschisis (X-linked, juvenile) 1 (human)
  • Synonyms
    Rs1h, tmgc1, Xlrs1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1336189
    NCBI Gene: 20147
  • Gene Overview
    MyGene.info: RS1
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:160768013-160799663 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 73.95 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    60 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1336189
protein coding gene ChrX:160768013-160799663 (.)
129S1/SvImJ MGP_129S1SvImJ_G0036233
protein coding gene ChrX:158696237-158730704 (+)
A/J MGP_AJ_G0036203
protein coding gene ChrX:157953734-157990234 (+)
AKR/J MGP_AKRJ_G0036131
protein coding gene ChrX:162968126-163002483 (+)
BALB/cJ MGP_BALBcJ_G0036196
protein coding gene ChrX:156028654-156060457 (+)
C3H/HeJ MGP_C3HHeJ_G0035902
protein coding gene ChrX:159097744-159130786 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036718
protein coding gene ChrX:163423543-163457218 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033540
protein coding gene ChrX:149176535-149207593 (+)
CAST/EiJ MGP_CASTEiJ_G0035191
protein coding gene ChrX:138107176-138146525 (+)
CBA/J MGP_CBAJ_G0035877
protein coding gene ChrX:168075335-168108088 (+)
DBA/2J MGP_DBA2J_G0036043
protein coding gene ChrX:156912527-156944447 (+)
FVB/NJ MGP_FVBNJ_G0035974
protein coding gene ChrX:156028977-156060272 (+)
LP/J MGP_LPJ_G0036128
protein coding gene ChrX:159877206-159909897 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0036006
protein coding gene ChrX:176788862-176829998 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036759
protein coding gene ChrX:158248546-158282277 (+)
PWK/PhJ MGP_PWKPhJ_G0034889
protein coding gene ChrX:134959922-134992606 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034710
protein coding gene ChrX:138521288-138553644 (+)
WSB/EiJ MGP_WSBEiJ_G0035326
protein coding gene ChrX:156218559-156253211 (+)



Homology
more
  • Human Ortholog
    RS1, retinoschisin 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    RS1, retinoschisin 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    RS, XLRS1
  • Links
    NCBI Gene ID: 6247
    neXtProt AC: NX_O15537
    UniProt: O15537

  • Chr Location
    Xp22.13; chrX:18639688-18672103 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 279
    1 human;1 mouse;1 rat;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: RS1
  • Gene Tree
    Rs1
Human Diseases
more
  • Diseases
    1 with Rs1 mouse models; 1 with human RS1 associations

Human Disease Mouse Models
      
IDs
View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 3 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    3 images
    26 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Hemizygous males for a targeted null X-linked mutation exhibit disrupted organization of retinal cell layers, small cyst-like structures on the inner retina, and altered electroretinographs.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20147 NCBI Gene Model | MGI Sequence Detail 31651 C57BL/6J ±  kb
    transcript NM_011302 RefSeq | MGI Sequence Detail 5855 Not Specified  
    polypeptide Q9Z1L4 UniProt | EBI | MGI Sequence Detail 224 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 50
      Genomic 1
      cDNA 48
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2183287
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 1
      Diseases 3
      Gene Ontology 7
      Phenotypes 26
    • Earliest
      J:46359 Blair HJ, et al., Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis. Hum Mol Genet. 1998 Mar;7(3):549-55
    • Latest
      J:257593 Marangoni D, et al., Rearing Light Intensity Affects Inner Retinal Pathology in a Mouse Model of X-Linked Retinoschisis but Does Not Alter Gene Therapy Outcome. Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1656-1664

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory