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Klhl31 Gene Detail
Summary
  • Symbol
    Klhl31
  • Name
    kelch-like 31
  • Synonyms
    9830147P19Rik, D930047P17Rik, Kbtbd1
  • Feature Type
    protein coding gene
  • IDs
    MGI:3045305
    NCBI Gene: 244923
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:77636732-77660125 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 43.36 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    162 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3045305
 protein coding gene Chr9:77636500-77660127 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035053
 protein coding gene Chr9:78083382-78110450 (+)
A/J MGP_AJ_G0035034
 protein coding gene Chr9:75358785-75382199 (+)
AKR/J MGP_AKRJ_G0034963
 protein coding gene Chr9:77137894-77165629 (+)
BALB/cJ MGP_BALBcJ_G0035026
 protein coding gene Chr9:75036178-75063318 (+)
C3H/HeJ MGP_C3HHeJ_G0034735
 protein coding gene Chr9:77661793-77690869 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035544
 protein coding gene Chr9:80158658-80194573 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032455
 protein coding gene Chr9:74612137-74636294 (+)
CAST/EiJ MGP_CASTEiJ_G0034057
 protein coding gene Chr9:78022782-78031293 (+)
CBA/J MGP_CBAJ_G0034707
 protein coding gene Chr9:82941866-82967228 (+)
DBA/2J MGP_DBA2J_G0034867
 protein coding gene Chr9:75009948-75034238 (+)
FVB/NJ MGP_FVBNJ_G0034809
 protein coding gene Chr9:74267725-74291588 (+)
LP/J MGP_LPJ_G0034948
 protein coding gene Chr9:78313838-78339535 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034850
 protein coding gene Chr9:84150615-84178157 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035567
 protein coding gene Chr9:77320898-77346988 (+)
PWK/PhJ MGP_PWKPhJ_G0033761
 protein coding gene Chr9:75269625-75286293 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033594
 protein coding gene Chr9:77587246-77595631 (+)
WSB/EiJ MGP_WSBEiJ_G0034169
 protein coding gene Chr9:77241354-77266139 (+)



Homology
more
  • Human Ortholog
    KLHL31, kelch like family member 31
  • Vertebrate Orthologs
    9
  • Human Ortholog
    KLHL31, kelch like family member 31
    Orthology source: HomoloGene, HGNC
  • Synonyms
    bA345L23.2, BKLHD6, KBTBD1, KLHL
  • Links
    NCBI Gene ID: 401265
    neXtProt AC: NX_Q9H511
    UniProt: Q9H511

  • Chr Location
    6p12.1; chr6:53647901-53665854 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Klhl31 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
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    10 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit decreased body weight, decreased grip strength, reduced postnatal skeletal muscle weight, centronuclear myopathy, central cores, Z-disc streaming, skeletal muscle fiber degeneration and sarcoplasmic reticulum dilation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    6
  • GO References
    2
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
    729
  • Tissues
    7
  • cDNA Data
    10
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 244923 NCBI Gene Model | MGI Sequence Detail 23394 C57BL/6J ±  kb
    transcript NM_172925 RefSeq | MGI Sequence Detail 6260 C57BL/6  
    polypeptide Q8BWA5 UniProt | EBI | MGI Sequence Detail 634 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2444582
    References
    more
    • Summaries
      All 27
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 2
      Phenotypes 10
    • Earliest
      J:12013 Russell LB, Definition of functional units in a small chromosomal segment of the mouse and its use in interpreting the nature of radiation-induced mutations. Mutat Res. 1971 Jan;11(1):107-23
    • Latest
      J:247651 Papizan JB, et al., Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice. J Clin Invest. 2017 Oct 02;127(10):3730-3740
    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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    03/03/2020
    MGI 6.15     		The Jackson Laboratory