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Katnb1 Gene Detail
Summary
  • Symbol
    Katnb1
  • Name
    katanin p80 (WD40-containing) subunit B 1
  • Synonyms
    2410003J24Rik, KAT
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921437
    NCBI Gene: 74187
  • Gene Overview
    MyGene.info: KATNB1
Location & Maps
more
  • Sequence Map
    Chr8:95081201-95099874 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      18674 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 47.12 cM, cytoband C5
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    KATNB1, katanin regulatory subunit B1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    KATNB1, katanin regulatory subunit B1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    KAT, LIS6
  • Links
    NCBI Gene ID: 10300
    neXtProt AC: NX_Q9BVA0

  • Chr Location
    16q21; chr16:57735720-57757250 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 4302
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: KATNB1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human KATNB1 associations

Human Disease Mouse Models
       Lissencephaly 6 with Microcephaly; LIS6   OMIM: 616212
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    41 phenotypes from 3 alleles in 3 genetic backgrounds
    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
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.
  • All Mutations and Alleles
    11
  • Chemically induced (ENU)
    1
  • Gene trapped
    6
  • Targeted
    4
  • Incidental Mutations
Nullizygous mice exhibit embryonic lethality, small embryo, brain and limb bud size, variable eye defects, holoprosencephaly, and thin cerebral cortex with fewer cortical progenitors and post-mitotic neurons. Mutant MEFs form multiple centrioles, multipolar spindles, and supernumerary primary cilia.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000031787 Ensembl Gene Model | MGI Sequence Detail 18674 C57BL/6J ±  kb
transcript ENSMUST00000034239 Ensembl | MGI Sequence Detail 3425 Not Applicable  
polypeptide ENSMUSP00000034239 Ensembl | MGI Sequence Detail 658 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    172 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 14
    cDNA 14

    Microarray probesets 4
References
more
  • Summaries
    All 40
    Developmental Gene Expression 5
    Gene Ontology 7
    Phenotypes 10
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:233777 Ray JP, et al., The Interleukin-2-mTORc1 Kinase Axis Defines the Signaling, Differentiation, and Metabolism of T Helper 1 and Follicular B Helper T Cells. Immunity. 2015 Oct 20;43(4):690-702

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory