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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
  • Gene Overview
    MyGene.info: SAP130
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:31634371-31723061 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 17.81 cM, cytoband B2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    494 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 Chr18:31634347-31723068 (.)
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
    10
  • Human Ortholog
    SAP130, Sin3A associated protein 130
    Orthology source: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 79595
    neXtProt AC: NX_Q9H0E3
    UniProt: Q9H0E3

  • Chr Location
    2q14.3; chr2:127941217-128028093 (-)  GRCh38.p7

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
    18 phenotypes from 3 alleles in 5 genetic backgrounds
    6 phenotypes from multigenic genotypes
    12 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.
Mice homozygous for a transposon insertion are viable and fertile.
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 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
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000024260 Ensembl Gene Model | MGI Sequence Detail 88691 C57BL/6J ±  kb
transcript ENSMUST00000178164 Ensembl | MGI Sequence Detail 4030 Not Applicable  
polypeptide ENSMUSP00000136842 Ensembl | MGI Sequence Detail 1057 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    3 Sequences
  • InterPro Domains
    IPR024137 Histone deacetylase complex subunit SAP130
    IPR031963 Histone deacetylase complex subunit SAP130, C-terminal domain
Molecular
Reagents
less
  • All nucleic 47
    cDNA 47

    Microarray probesets 3
References
more
  • Summaries
    All 37
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 6
    Phenotypes 12
  • 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:249035 Kannan M, et al., WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. Proc Natl Acad Sci U S A. 2017 Oct 31;114(44):E9308-E9317

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/27/2018
MGI 6.13
The Jackson Laboratory