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Sap130 Gene Detail
Summary
  • Symbol
    Sap130
  • Name
    Sin3A associated protein
  • Synonyms
    2610304F09Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919782
    NCBI Gene: 269003
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:31767436-31856121 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 17.81 cM, cytoband B2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2176 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919782
 protein coding gene Chr18:31767424-31856121 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024215
 protein coding gene Chr18:29740877-29835974 (+)
A/J MGP_AJ_G0024180
 protein coding gene Chr18:28758914-28844202 (+)
AKR/J MGP_AKRJ_G0024149
 protein coding gene Chr18:29552727-29643796 (+)
BALB/cJ MGP_BALBcJ_G0024180
 protein coding gene Chr18:28852672-28941921 (+)
C3H/HeJ MGP_C3HHeJ_G0023948
 protein coding gene Chr18:29587190-29677961 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024622
 protein coding gene Chr18:30805769-30899994 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022064
 protein coding gene Chr18:28983954-29068013 (+)
CAST/EiJ MGP_CASTEiJ_G0023423
 protein coding gene Chr18:29482840-29572501 (+)
CBA/J MGP_CBAJ_G0023916
 protein coding gene Chr18:31761681-31854130 (+)
DBA/2J MGP_DBA2J_G0024048
 protein coding gene Chr18:28433960-28520468 (+)
FVB/NJ MGP_FVBNJ_G0024014
 protein coding gene Chr18:28143070-28229295 (+)
LP/J MGP_LPJ_G0024129
 protein coding gene Chr18:29826409-29915905 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024042
 protein coding gene Chr18:33121459-33215254 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024670
 protein coding gene Chr18:29419862-29511315 (+)
PWK/PhJ MGP_PWKPhJ_G0023166
 protein coding gene Chr18:28585913-28671248 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022975
 protein coding gene Chr18:29629777-29715711 (+)
WSB/EiJ MGP_WSBEiJ_G0023486
 protein coding gene Chr18:29317926-29406620 (+)



Homology
more
  • Human Ortholog
    SAP130, Sin3A associated protein 130
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SAP130, Sin3A associated protein 130
  • Links
    NCBI Gene ID: 79595
    neXtProt AC: NX_Q9H0E3
    UniProt: Q9H0E3

  • Chr Location
    2q14.3; chr2:127941217-128028120 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Sap130 mouse models

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 2 alleles in 4 genetic backgrounds
    7 phenotypes from multigenic genotypes
    15 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 a transposon insertion are viable and fertile.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    9
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
    47
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 269003 NCBI Gene Model | MGI Sequence Detail 88686 C57BL/6J ±  kb
    transcript NM_001357555 RefSeq | MGI Sequence Detail 4330 C57BL/6  
    polypeptide Q8BIH0 UniProt | EBI | MGI Sequence Detail 1057 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000014445 histone deacetylase complex subunit SAP130
      (term hierarchy)
    • InterPro Domains
      IPR024137 Histone deacetylase complex subunit SAP130
      IPR031963 Histone deacetylase complex subunit SAP130, C-terminal domain
    • GlyGen
      Q8BIH0 15 sites, 1 O-linked glycan (15 sites)
    Molecular
    Reagents
    less
    • All nucleic 47
      cDNA 47

      Microarray probesets 3
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 9
      Phenotypes 15
    • Earliest
      J:320044 Zhang Y, et al., SAP30, a novel protein conserved between human and yeast, is a component of a histone deacetylase complex. Mol Cell. 1998 Jun;1(7):1021-31
    • 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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory