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Kansl1 Gene Detail
Summary
  • Symbol
    Kansl1
  • Name
    KAT8 regulatory NSL complex subunit 1
  • Synonyms
    1700081L11Rik, mKIAA1267
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923969
    NCBI Gene: 76719
  • Gene Overview
    MyGene.info: KANSL1
Location & Maps
more
  • Sequence Map
    Chr11:104333501-104468861 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      135361 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 67.79 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    KANSL1, KAT8 regulatory NSL complex subunit 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    KANSL1, KAT8 regulatory NSL complex subunit 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CENP-36, hMSL1v1, KDVS, KIAA1267, MSL1v1, NSL1
  • Links
    NCBI Gene ID: 284058
    neXtProt AC: NX_Q7Z3B3

  • Chr Location
    17q21.31; chr17:46029916-46225374 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 9140
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: KANSL1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human KANSL1 associations

Human Disease Mouse Models
       Koolen-De Vries Syndrome; KDVS   OMIM: 610443
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    12 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
    175
  • Gene trapped
    170
  • Targeted
    5
  • Genomic Mutations
    1 involving Kansl1
  • Incidental Mutations
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003147 VEGA Gene Model | MGI Sequence Detail 135361 C57BL/6J ±  kb
transcript OTTMUST00000006497 VEGA | MGI Sequence Detail 5427 Not Applicable  
polypeptide OTTMUSP00000003069 VEGA | MGI Sequence Detail 1099 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    292 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000031979 KAT8 regulatory NSL complex subunit 1
  • InterPro Domains
    IPR026180 KAT8 regulatory NSL complex subunit 1
    IPR029332 PEHE domain
Molecular
Reagents
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  • All nucleic 168
    Genomic 1
    cDNA 167

    Microarray probesets 6
References
more
  • Summaries
    All 36
    Gene Ontology 2
    Phenotypes 12
  • Earliest
    J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-le-grand). 1999 Jul;45(5):737-50
  • Latest
    J:228652 Rodriguez-Martin T, et al., Reduced number of axonal mitochondria and tau hypophosphorylation in mouse P301L tau knockin neurons. Neurobiol Dis. 2016 Jan;85:1-10

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory