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Ss18l1 Gene Detail
Summary
  • Symbol
    Ss18l1
  • Name
    SS18, nBAF chromatin remodeling complex subunit like 1
  • Synonyms
    A230053O16Rik, CREST
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444061
    NCBI Gene: 269397
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:179684302-179711994 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 102.56 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    187 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444061
 protein coding gene Chr2:179684276-179711994 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026984
 protein coding gene Chr2:186539620-186567219 (+)
A/J MGP_AJ_G0026950
 protein coding gene Chr2:178879069-178904910 (+)
AKR/J MGP_AKRJ_G0026920
 protein coding gene Chr2:184230451-184256020 (+)
BALB/cJ MGP_BALBcJ_G0026959
 protein coding gene Chr2:179341229-179366589 (+)
C3H/HeJ MGP_C3HHeJ_G0026700
 protein coding gene Chr2:184589097-184614730 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027405
 protein coding gene Chr2:191932822-191961627 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024772
 protein coding gene Chr2:169570924-169597396 (+)
CAST/EiJ MGP_CASTEiJ_G0026159
 protein coding gene Chr2:182829999-182857086 (+)
CBA/J MGP_CBAJ_G0026677
 protein coding gene Chr2:198893834-198918942 (+)
DBA/2J MGP_DBA2J_G0026815
 protein coding gene Chr2:177974359-177999337 (+)
FVB/NJ MGP_FVBNJ_G0026781
 protein coding gene Chr2:176576519-176603044 (+)
LP/J MGP_LPJ_G0026916
 protein coding gene Chr2:186527875-186556961 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026800
 protein coding gene Chr2:201542153-201570350 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027464
 protein coding gene Chr2:184193781-184222293 (+)
PWK/PhJ MGP_PWKPhJ_G0025895
 protein coding gene Chr2:175485789-175511077 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025695
 protein coding gene Chr2:180688886-180714259 (+)
WSB/EiJ MGP_WSBEiJ_G0026231
 protein coding gene Chr2:185163967-185191465 (+)



Homology
more
  • Human Ortholog
    SS18L1, SS18L1 subunit of BAF chromatin remodeling complex
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SS18L1, SS18L1 subunit of BAF chromatin remodeling complex
  • Synonyms
    CREST, LP2261, SMARCL2
  • Links
    NCBI Gene ID: 26039
    neXtProt AC: NX_O75177
    UniProt: O75177

  • Chr Location
    20q13.33; chr20:62143769-62182514 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 3 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    8 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for disruptions in this gene have central nervous system and coordination defects. They grow slowly and usually die before adulthood. Those that do survive are infertile.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    14
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    721
  • Tissues
    10
  • cDNA Data
    10
  • Literature Summary
    22
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039086 Ensembl Gene Model | MGI Sequence Detail 27693 C57BL/6J ±  kb
    transcript ENSMUST00000041126 Ensembl | MGI Sequence Detail 4343 Not Applicable  
    polypeptide ENSMUSP00000041288 Ensembl | MGI Sequence Detail 402 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 2
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 22
      Gene Ontology 14
      Phenotypes 8
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:344223 Zhang W, et al., NLRP14 deficiency causes female infertility with oocyte maturation defects and early embryonic arrest by impairing cytoplasmic UHRF1 abundance. Cell Rep. 2023 Dec 26;42(12):113531
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory