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Itsn1 Gene Detail
Summary
  • Symbol
    Itsn1
  • Name
    intersectin 1 (SH3 domain protein 1A)
  • Synonyms
    Eh domain, SH3 domain regulator of endocytosis 1, EHSH1, Ese1, Intersectin-L, Sh3p17
  • Feature Type
    protein coding gene
  • IDs
    MGI:1338069
    NCBI Gene: 16443
  • Alliance
    gene page
  • Transcription Start Sites
    24 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:91526198-91717479 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 53.28 cM, cytoband C4
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5588 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1338069
 protein coding gene Chr16:91526169-91717485 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023050
 protein coding gene Chr16:92763598-92972123 (+)
A/J MGP_AJ_G0023018
 protein coding gene Chr16:88424332-88618733 (+)
AKR/J MGP_AKRJ_G0022988
 protein coding gene Chr16:91099934-91300977 (+)
BALB/cJ MGP_BALBcJ_G0023020
 protein coding gene Chr16:88951014-89143859 (+)
C3H/HeJ MGP_C3HHeJ_G0022781
 protein coding gene Chr16:91669124-91867504 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023467
 protein coding gene Chr16:95754238-95948971 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020969
 protein coding gene Chr16:86120515-86312399 (+)
CAST/EiJ MGP_CASTEiJ_G0022300
 protein coding gene Chr16:92233009-92435730 (+)
CBA/J MGP_CBAJ_G0022750
 protein coding gene Chr16:99853666-100056123 (+)
DBA/2J MGP_DBA2J_G0022884
 protein coding gene Chr16:88327846-88528974 (+)
FVB/NJ MGP_FVBNJ_G0022858
 protein coding gene Chr16:87453230-87648277 (+)
LP/J MGP_LPJ_G0022954
 protein coding gene Chr16:92462899-92659716 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022879
 protein coding gene Chr16:104388381-104588220 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023485
 protein coding gene Chr16:91616157-91815306 (+)
PWK/PhJ MGP_PWKPhJ_G0022045
 protein coding gene Chr16:88508964-88701216 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021875
 protein coding gene Chr16:91180282-91381522 (+)
WSB/EiJ MGP_WSBEiJ_G0022352
 protein coding gene Chr16:91862441-92063195 (+)



Homology
more
  • Human Ortholog
    ITSN1, intersectin 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ITSN1, intersectin 1
  • Synonyms
    ITSN, SH3D1A, SH3P17
  • Links
    NCBI Gene ID: 6453
    neXtProt AC: NX_Q15811
    UniProt: Q15811

  • Chr Location
    21q22.11; chr21:33642400-33899861 (+)  GRCh38
Human Diseases
less
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    30 phenotypes from 4 alleles in 4 genetic backgrounds
    6 phenotypes from multigenic genotypes
    94 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.
Homozygous for a gene trapped allele exhibit embryonic lethal. Mice homozygous for a null allele exhibit some postnatal lethality and impaired vesicle recycling in surviving mice.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    57
  • GO References
    16
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
    941
  • Tissues
    144
  • cDNA Data
    25
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16443 NCBI Gene Model | MGI Sequence Detail 191282 C57BL/6J ±  kb
    transcript NM_010587 RefSeq | MGI Sequence Detail 13976 C57BL/6  
    polypeptide Q9Z0R4 UniProt | EBI | MGI Sequence Detail 1714 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      cDNA 25
      Primer pair 3
      Other 1

      Microarray probesets 13
    Other
    Accession IDs
    less
    MGI:2146349, MGI:2146354, MGI:2146410, MGI:2146490, MGI:2146499
    References
    more
    • Summaries
      All 155
      Developmental Gene Expression 15
      Diseases 4
      Gene Ontology 16
      Phenotypes 94
    • Earliest
      J:42265 Huang TT, et al., Superoxide-mediated cytotoxicity in superoxide dismutase-deficient fetal fibroblasts. Arch Biochem Biophys. 1997 Aug 15;344(2):424-32
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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