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Sorbs1 Gene Detail
Summary
  • Symbol
    Sorbs1
  • Name
    sorbin and SH3 domain containing 1
  • Synonyms
    2310065E01Rik, 9530001P15Rik, CAP, c-Cbl-associated protein, mKIAA1296, Ponsin, Sh3d5
  • Feature Type
    protein coding gene
  • IDs
    MGI:700014
    NCBI Gene: 20411
  • Alliance
    gene page
  • Transcription Start Sites
    36 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:40283197-40502223 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 34.25 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6300 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_700014
 protein coding gene Chr19:40280484-40502399 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025111
 protein coding gene Chr19:39499150-39608062 (-)
A/J MGP_AJ_G0025088
 protein coding gene Chr19:37569757-37676630 (-)
AKR/J MGP_AKRJ_G0025056
 protein coding gene Chr19:38863759-38969968 (-)
BALB/cJ MGP_BALBcJ_G0025082
 protein coding gene Chr19:37660190-37766810 (-)
C3H/HeJ MGP_C3HHeJ_G0024842
 protein coding gene Chr19:38999647-39111478 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025526
 protein coding gene Chr19:40581421-40688059 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022939
 protein coding gene Chr19:36977969-37083758 (-)
CAST/EiJ MGP_CASTEiJ_G0024307
 protein coding gene Chr19:38627543-38737641 (-)
CBA/J MGP_CBAJ_G0024822
 protein coding gene Chr19:42563401-42677805 (-)
DBA/2J MGP_DBA2J_G0024954
 protein coding gene Chr19:37473933-37580977 (-)
FVB/NJ MGP_FVBNJ_G0024915
 protein coding gene Chr19:37220553-37329332 (-)
LP/J MGP_LPJ_G0025040
 protein coding gene Chr19:39540279-39651656 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024946
 protein coding gene Chr19:42274756-42381264 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025583
 protein coding gene Chr19:38878674-38988095 (-)
PWK/PhJ MGP_PWKPhJ_G0024057
 protein coding gene Chr19:37309894-37471280 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023860
 protein coding gene Chr19:37613806-37726716 (-)
WSB/EiJ MGP_WSBEiJ_G0024377
 protein coding gene Chr19:39046524-39270122 (-)



Homology
more
  • Human Ortholog
    SORBS1, sorbin and SH3 domain containing 1
  • Vertebrate Orthologs
    1
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SORBS1, sorbin and SH3 domain containing 1
  • Synonyms
    CAP, FLAF2, R85FL, SH3D5, SH3P12, SORB1
  • Links
    NCBI Gene ID: 10580
    neXtProt AC: NX_Q9BX66
    UniProt: Q9BX66

  • Chr Location
    10q24.1; chr10:95311771-95561414 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human SORBS1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    9 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 null allele exhibit decreased triglyceride levels, altered glucose homeostasis, decreased white blood cells and resistance to developing glucose intolerance induced by a high fat diet.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    51
  • GO References
    12
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
    1105
  • Tissues
    92
  • cDNA Data
    25
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025006 Ensembl Gene Model | MGI Sequence Detail 219027 C57BL/6J ±  kb
    transcript ENSMUST00000224667 Ensembl | MGI Sequence Detail 4313 Not Applicable  
    polypeptide ENSMUSP00000153009 Ensembl | MGI Sequence Detail 1290 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      16 Sequences
    • Protein Ontology
      PR:000015407 sorbin and SH3 domain-containing protein 1
      (term hierarchy)
    • InterPro Domains
      IPR050384 Endophilin/SH3RF
      IPR001452 SH3 domain
      IPR036028 SH3-like domain superfamily
      IPR003127 SoHo domain
      IPR035610 Sorbin and SH3 domain-containing protein 1, first SH3 domain
      IPR035611 Sorbin and SH3 domain-containing protein 1, second SH3 domain
      IPR035606 Sorbin and SH3 domain-containing protein 1, third SH3 domain
    • GlyGen
      Q62417 8 sites, 3 N-linked glycans (3 sites), 1 O-linked glycan (5 sites)
    Molecular
    Reagents
    less
    • All nucleic 36
      cDNA 25
      Primer pair 10
      Other 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1922938, MGI:2443814
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 14
      Gene Ontology 12
      Phenotypes 9
    • Earliest
      J:35786 Sparks AB, et al., Cloning of ligand targets: systematic isolation of SH3 domain-containing proteins. Nat Biotechnol. 1996 Jun;14(6):741-4
    • Latest
      J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory