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Ascc1 Gene Detail
Summary
  • Symbol
    Ascc1
  • Name
    activating signal cointegrator 1 complex subunit 1
  • Synonyms
    1810015P09Rik, ASC1p50, CGI-18
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916340
    NCBI Gene: 69090
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:60002805-60099988 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 29.67 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    547 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916340
protein coding gene Chr10:60002479-60099990 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017264
protein coding gene Chr10:59206142-59309296 (+)
A/J MGP_AJ_G0017242
protein coding gene Chr10:57471504-57572075 (+)
AKR/J MGP_AKRJ_G0017202
protein coding gene Chr10:58966743-59075639 (+)
BALB/cJ MGP_BALBcJ_G0017202
protein coding gene Chr10:57560502-57659260 (+)
C3H/HeJ MGP_C3HHeJ_G0017025
protein coding gene Chr10:58884027-58984479 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017660
protein coding gene Chr10:61321814-61433663 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015351
protein coding gene Chr10:54482518-54576090 (+)
CAST/EiJ MGP_CASTEiJ_G0016596
protein coding gene Chr10:58813845-58920404 (+)
CBA/J MGP_CBAJ_G0016997
protein coding gene Chr10:63530747-63636312 (+)
DBA/2J MGP_DBA2J_G0017102
protein coding gene Chr10:56780770-56878203 (+)
FVB/NJ MGP_FVBNJ_G0017096
protein coding gene Chr10:56011373-56109862 (+)
LP/J MGP_LPJ_G0017177
protein coding gene Chr10:59577566-59675684 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017124
protein coding gene Chr10:66035105-66139763 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017698
protein coding gene Chr10:58770484-58874127 (+)
PWK/PhJ MGP_PWKPhJ_G0016379
protein coding gene Chr10:56581216-56676904 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016162
protein coding gene Chr10:58105724-58204473 (+)
WSB/EiJ MGP_WSBEiJ_G0016660
protein coding gene Chr10:58682131-58785915 (+)



Homology
more
  • Human Ortholog
    ASCC1, activating signal cointegrator 1 complex subunit 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ASCC1, activating signal cointegrator 1 complex subunit 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ASC1p50, CGI-18, p50, SMABF2
  • Links
    NCBI Gene ID: 51008
    neXtProt AC: NX_Q8N9N2
    UniProt: Q8N9N2

  • Chr Location
    10q22.1; chr10:72096032-72217134 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human ASCC1 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
    13 phenotype references
  • All Mutations and Alleles
    45
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    1
  • Gene trapped
    40
  • Radiation induced
    1
  • Targeted
    2
  • Genomic Mutations
    2 involving Ascc1
  • Incidental Mutations
    APF
  • Find Mice (IMSR)
Gene Ontology
(GO)
Classifications
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  • 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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000044475 Ensembl Gene Model | MGI Sequence Detail 97184 C57BL/6J ±  kb
transcript ENSMUST00000050516 Ensembl | MGI Sequence Detail 1450 Not Applicable  
polypeptide ENSMUSP00000052351 Ensembl | MGI Sequence Detail 356 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000004359 activating signal cointegrator 1 complex subunit 1
  • InterPro Domains
    IPR009210 Activating signal cointegrator 1 complex subunit 1
    IPR004087 K Homology domain
    IPR004088 K Homology domain, type 1
    IPR036612 K Homology domain, type 1 superfamily
    IPR019510 Protein kinase A anchor protein, nuclear localisation signal domain
Molecular
Reagents
less
  • All nucleic 15
    cDNA 14
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
less
MGI:2143642
References
more
  • Summaries
    All 39
    Developmental Gene Expression 3
    Gene Ontology 4
    Phenotypes 13
  • Earliest
    J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
  • Latest
    J:231973 Knierim E, et al., Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. Am J Hum Genet. 2016 Mar 3;98(3):473-89

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory