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Klhl17 Gene Detail
Summary
  • Symbol
    Klhl17
  • Name
    kelch-like 17
  • Synonyms
    actinfilin
  • Feature Type
    protein coding gene
  • IDs
    MGI:2678948
    NCBI Gene: 231003
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:156313792-156319314 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 88.63 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    77 from dbSNP Build 142
  • Strain Annotations
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2678948
 protein coding gene Chr4:156313501-156319314 (-)
129S1/SvImJ no annotation
A/J no annotation
AKR/J no annotation
BALB/cJ no annotation
C3H/HeJ no annotation
C57BL/6NJ no annotation
CAROLI/EiJ no annotation
CAST/EiJ no annotation
CBA/J no annotation
DBA/2J no annotation
FVB/NJ no annotation
LP/J no annotation
NOD/ShiLtJ no annotation
NZO/HlLtJ no annotation
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    KLHL17, kelch like family member 17
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KLHL17, kelch like family member 17
  • Synonyms
    AF
  • Links
    NCBI Gene ID: 339451
    neXtProt AC: NX_Q6TDP4
    UniProt: Q6TDP4

  • Chr Location
    1p36.33; chr1:960584-965719 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    3 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 and heterozygous for a null allele exhibit reduced width of dendritic spine heads in neurons. Heterozygotes also show slightly increased mEPSC amplitude, hyperactivity and increased rearing, and reduced social interaction.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    15
  • GO References
    4
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
    36
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00002076083 Ensembl Gene Model | MGI Sequence Detail 5523 C57BL/6J ±  kb
transcript ENSMUST00000105569 Ensembl | MGI Sequence Detail 2723 Not Applicable  
polypeptide ENSMUSP00000101194 Ensembl | MGI Sequence Detail 640 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 36
    cDNA 36

    Microarray probesets 2
Other
Accession IDs
less
MGI:2140408
References
more
  • Summaries
    All 26
    Gene Ontology 4
    Phenotypes 3
  • Earliest
    J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
  • Latest
    J:340562 Hu HT, et al., Autism-related KLHL17 and SYNPO act in concert to control activity-dependent dendritic spine enlargement and the spine apparatus. PLoS Biol. 2023 Aug;21(8):e3002274
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
05/07/2024
MGI 6.23 		The Jackson Laboratory