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Klhl1 Gene Detail
Summary
  • Symbol
    Klhl1
  • Name
    kelch-like 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2136335
    NCBI Gene: 93688
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:96342695-96756525 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 46.92 cM, cytoband E2.1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    15510 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2136335
 protein coding gene Chr14:96340172-96756538 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021612
 protein coding gene Chr14:92224693-92666091 (-)
A/J MGP_AJ_G0021570
 protein coding gene Chr14:89386117-89800326 (-)
AKR/J MGP_AKRJ_G0021546
 protein coding gene Chr14:91995204-92402908 (-)
BALB/cJ MGP_BALBcJ_G0021576
 protein coding gene Chr14:89615708-90019321 (-)
C3H/HeJ MGP_C3HHeJ_G0021354
 protein coding gene Chr14:91853041-92276976 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022016
 protein coding gene Chr14:96020187-96464812 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019556
 protein coding gene Chr14:86518091-86887668 (-)
CAST/EiJ MGP_CASTEiJ_G0020871
 protein coding gene Chr14:89084844-89512606 (-)
CBA/J MGP_CBAJ_G0021322
 protein coding gene Chr14:99516739-99959423 (-)
DBA/2J MGP_DBA2J_G0021446
 protein coding gene Chr14:88836028-89244443 (-)
FVB/NJ MGP_FVBNJ_G0021422
 protein coding gene Chr14:87873149-88257375 (-)
LP/J MGP_LPJ_G0021514
 protein coding gene Chr14:93021056-93457461 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021450
 protein coding gene Chr14:101736717-102287358 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022039
 protein coding gene Chr14:91488877-91913301 (-)
PWK/PhJ MGP_PWKPhJ_G0020614
 protein coding gene Chr14:85759974-86173030 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020452
 protein coding gene Chr14:87389853-87812865 (-)
WSB/EiJ MGP_WSBEiJ_G0020924
 protein coding gene Chr14:92020918-92436593 (-)



Homology
more
  • Human Ortholog
    KLHL1, kelch like family member 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KLHL1, kelch like family member 1
  • Synonyms
    MRP2
  • Links
    NCBI Gene ID: 57626
    neXtProt AC: NX_Q9NR64
    UniProt: Q9NR64

  • Chr Location
    13q21.33; chr13:69700594-70108493 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 3 alleles in 2 genetic backgrounds
    9 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 both homozygous and heterozygous for disruption of this gene develop abnormalities in gait and defects in motor coordination with time. Dendritic atrophy of Purkinje cells is also seen.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    6
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
    785
  • Tissues
    11
  • cDNA Data
    9
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 93688 NCBI Gene Model | MGI Sequence Detail 413831 C57BL/6J ±  kb
    transcript NM_053105 RefSeq | MGI Sequence Detail 4109 C57BL/6  
    polypeptide Q9JI74 UniProt | EBI | MGI Sequence Detail 751 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 11
      cDNA 9
      Primer pair 1
      Other 1

      Microarray probesets 2
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 3
      Gene Ontology 6
      Phenotypes 9
    • Earliest
      J:62929 Nemes JP, et al., The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). Hum Mol Genet. 2000 Jun 12;9(10):1543-51
    • 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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory