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Sharpin Gene Detail
Summary
  • Symbol
    Sharpin
  • Name
    SHANK-associated RH domain interacting protein
  • Synonyms
    0610041B22Rik, cpdm, SIPL1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913331
    NCBI Gene: 106025
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:76347040-76351111 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 35.75 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913331
protein coding gene Chr15:76347040-76351115 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021986
protein coding gene Chr15:76418182-76422253 (-)
A/J MGP_AJ_G0021944
protein coding gene Chr15:73635021-73639101 (-)
AKR/J MGP_AKRJ_G0021927
protein coding gene Chr15:75636683-75640753 (-)
BALB/cJ MGP_BALBcJ_G0021953
protein coding gene Chr15:73662759-73666832 (-)
C3H/HeJ MGP_C3HHeJ_G0021725
protein coding gene Chr15:75678355-75682425 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022393
protein coding gene Chr15:79270908-79274979 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019922
protein coding gene Chr15:70295423-70299429 (-)
CAST/EiJ MGP_CASTEiJ_G0021244
protein coding gene Chr15:76477047-76481117 (-)
CBA/J MGP_CBAJ_G0021692
protein coding gene Chr15:81779170-81783250 (-)
DBA/2J MGP_DBA2J_G0021817
protein coding gene Chr15:73170830-73174900 (-)
FVB/NJ MGP_FVBNJ_G0021798
protein coding gene Chr15:72220734-72224808 (-)
LP/J MGP_LPJ_G0021888
protein coding gene Chr15:76508529-76512601 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021822
protein coding gene Chr15:87115755-87119826 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022413
protein coding gene Chr15:75876613-75880683 (-)
PWK/PhJ MGP_PWKPhJ_G0020985
protein coding gene Chr15:73328810-73332979 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020825
protein coding gene Chr15:75597907-75601972 (-)
WSB/EiJ MGP_WSBEiJ_G0021296
protein coding gene Chr15:75979510-75983589 (-)



Homology
more
  • Human Ortholog
    SHARPIN, SHANK associated RH domain interactor
  • Vertebrate Orthologs
    8
  • Human Ortholog
    SHARPIN, SHANK associated RH domain interactor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    SIPL1
  • Links
    NCBI Gene ID: 81858
    neXtProt AC: NX_Q9H0F6
    UniProt: Q9H0F6

  • Chr Location
    8q24.3; chr8:144098633-144104265 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Sharpin mouse models

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    68 phenotypes from 2 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    65 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.
Mutations in this gene produces chronic skin lesions.
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
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022552 Ensembl Gene Model | MGI Sequence Detail 4072 C57BL/6J ±  kb
    transcript ENSMUST00000023211 Ensembl | MGI Sequence Detail 1734 Not Applicable  
    polypeptide ENSMUSP00000023211 Ensembl | MGI Sequence Detail 380 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 66
      cDNA 66

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-2104, MGI:2146193, MGI:88480
    References
    more
    • Summaries
      All 101
      Developmental Gene Expression 5
      Diseases 4
      Gene Ontology 11
      Phenotypes 65
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:262056 Franco J, et al., Profiling of epidermal lipids in a mouse model of dermatitis: Identification of potential biomarkers. PLoS One. 2018;13(4):e0196595

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory