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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
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:76231240-76235310 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 35.75 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    75 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 Chr15:76231240-76235311 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SHARPIN, SHANK associated RH domain interactor
  • Synonyms
    AIFID, SIPL1
  • Links
    NCBI Gene ID: 81858
    neXtProt AC: NX_Q9H0F6
    UniProt: Q9H0F6

  • Chr Location
    8q24.3; chr8:144098633-144108124 (-)  GRCh38
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
    69 phenotypes from 2 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    93 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.
Mutations in this gene produces chronic skin lesions.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    44
  • GO References
    14
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
    753
  • Tissues
    28
  • cDNA Data
    66
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 106025 NCBI Gene Model | MGI Sequence Detail 4071 C57BL/6J ±  kb
    transcript NM_025340 RefSeq | MGI Sequence Detail 1747 Not Specified  
    polypeptide Q91WA6 UniProt | EBI | MGI Sequence Detail 380 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 69
      cDNA 66
      Primer pair 2
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-2104, MGI:2146193, MGI:88480
    References
    more
    • Summaries
      All 134
      Developmental Gene Expression 6
      Diseases 4
      Gene Ontology 14
      Phenotypes 93
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:340344 Anderton H, et al., Langerhans cells are an essential cellular intermediary in chronic dermatitis. Cell Rep. 2022 Jun 7;39(10):110922
    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