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Sash1 Gene Detail
Summary
  • Symbol
    Sash1
  • Name
    SAM and SH3 domain containing 1
  • Synonyms
    1100001C18Rik, 2500002E12Rik, A330076K04Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1917347
    NCBI Gene: 70097
  • Alliance
    gene page
  • Transcription Start Sites
    30 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:8597983-8761814 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 2.75 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5297 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1917347
 protein coding gene Chr10:8597981-8821290 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017004
 protein coding gene Chr10:5995766-6170353 (-)
A/J MGP_AJ_G0016982
 protein coding gene Chr10:5696083-5864878 (-)
AKR/J MGP_AKRJ_G0016946
 protein coding gene Chr10:5802643-5982208 (-)
BALB/cJ MGP_BALBcJ_G0016940
 protein coding gene Chr10:5641826-5813961 (-)
C3H/HeJ MGP_C3HHeJ_G0016765
 protein coding gene Chr10:5965472-6141947 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017402
 protein coding gene Chr10:6119790-6294797 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015107
 protein coding gene Chr10:5226529-5390112 (-)
CAST/EiJ MGP_CASTEiJ_G0016347
 protein coding gene Chr10:5835309-6010454 (-)
CBA/J MGP_CBAJ_G0016737
 protein coding gene Chr10:6332819-6523979 (-)
DBA/2J MGP_DBA2J_G0016845
 protein coding gene Chr10:5614149-5778898 (-)
FVB/NJ MGP_FVBNJ_G0016840
 protein coding gene Chr10:5560402-5726115 (-)
LP/J MGP_LPJ_G0016920
 protein coding gene Chr10:5804574-5970451 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016870
 protein coding gene Chr10:6252092-6423826 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017440
 protein coding gene Chr10:5771600-5942065 (-)
PWK/PhJ MGP_PWKPhJ_G0016132
 protein coding gene Chr10:5569141-5735697 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015914
 protein coding gene Chr10:5845726-6025346 (-)
WSB/EiJ MGP_WSBEiJ_G0016409
 protein coding gene Chr10:5770564-5941208 (-)



Homology
more
  • Human Ortholog
    SASH1, SAM and SH3 domain containing 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SASH1, SAM and SH3 domain containing 1
  • Synonyms
    CAPOK, dJ323M4.1, DUH, DUH1, SH3D6A
  • Links
    NCBI Gene ID: 23328
    neXtProt AC: NX_O94885
    UniProt: O94885

  • Chr Location
    6q24.3-q25.1; chr6:148193468-148552044 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SASH1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    13 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    4
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
membraneless 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
    706
  • cDNA Data
    54
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000015305 Ensembl Gene Model | MGI Sequence Detail 163832 C57BL/6J ±  kb
transcript ENSMUST00000015449 Ensembl | MGI Sequence Detail 7183 Not Applicable  
polypeptide ENSMUSP00000015449 Ensembl | MGI Sequence Detail 1230 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000014463 SAM and SH3 domain-containing protein 1
    (term hierarchy)
  • PDB
    8J1I
  • InterPro Domains
    IPR051725 SAM and SH3 domain-containing protein
    IPR035720 SAM and SH3 domain-containing protein 1, SH3 domain
    IPR037627 SASH1, SAM domain repeat 1
    IPR037630 SASH1, SAM domain repeat 2
    IPR001452 SH3 domain
    IPR036028 SH3-like domain superfamily
    IPR021090 SLy proteins associated disordered region
    IPR001660 Sterile alpha motif domain
    IPR013761 Sterile alpha motif/pointed domain superfamily
  • GlyGen
    P59808 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
Molecular
Reagents
less
  • All nucleic 55
    cDNA 55

    Microarray probesets 2
Other
Accession IDs
less
MGI:1915682, MGI:2444711
References
more
  • Summaries
    All 34
    Gene Ontology 4
    Phenotypes 13
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory