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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
Location & Maps
more
  • Sequence Map
    Chr15:76347040-76351111 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4072 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 35.75 cM
  • Mapping Data
    3 experiments
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

  • Chr Location
    8q24.3; chr8:144098633-144104237 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Sharpin mouse models

Human Disease Mouse Models
       Dermatitis, Atopic   OMIM: 603165 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
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  • Phenotype Summary
    68 phenotypes from 2 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    57 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.
  • All Mutations and Alleles
    12
  • Chemically induced (other)
    3
  • Gene trapped
    2
  • Radiation induced
    2
  • Spontaneous
    2
  • Targeted
    2
  • Transgenic
    1
  • Genomic Mutations
    5 involving Sharpin
  • Incidental Mutations
Mutations in this gene produces chronic skin lesions.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023724 VEGA Gene Model | MGI Sequence Detail 4072 C57BL/6J ±  kb
transcript OTTMUST00000057935 VEGA | MGI Sequence Detail 1734 Not Applicable  
polypeptide OTTMUSP00000028019 VEGA | MGI Sequence Detail 380 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    8 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 65
    cDNA 65

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-2104, MGI:2146193, MGI:88480
References
more
  • Summaries
    All 68
    Developmental Gene Expression 3
    Diseases 4
    Gene Ontology 9
    Phenotypes 57
  • Earliest
    J:14539 HogenEsch H, et al., A spontaneous mutation characterized by chronic proliferative dermatitis in C57BL mice. Am J Pathol. 1993 Sep;143(3):972-82
  • Latest
    J:236193 Shimizu S, et al., Differential Involvement of the Npl4 Zinc Finger Domains of SHARPIN and HOIL-1L in Linear Ubiquitin Chain Assembly Complex-Mediated Cell Death Protection. Mol Cell Biol. 2016 May 15;36(10):1569-83

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
11/29/2016
MGI 6.06
The Jackson Laboratory