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Kif1a Gene Detail
Summary
  • Symbol
    Kif1a
  • Name
    kinesin family member 1A
  • Synonyms
    ATSV, C630002N23Rik, Kns1, LOC381283, N-3 kinesin
  • Feature Type
    protein coding gene
  • IDs
    MGI:108391
    NCBI Gene: 16560
  • Gene Overview
    MyGene.info: KIF1A
Location & Maps
more
  • Sequence Map
    Chr1:93015464-93101951 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      86488 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 46.74 cM, cytoband E1-E2
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    KIF1A, kinesin family member 1A
  • Vertebrate Orthologs
    11
  • Human Ortholog
    KIF1A, kinesin family member 1A
    Orthology source: HomoloGene
  • Synonyms
    ATSV, C2orf20, HSN2C, MRD9, SPG30, UNC104
  • Links
    NCBI Gene ID: 547
    neXtProt AC: NX_Q12756

  • Chr Location
    2q37.3; chr2:240713764-240821025 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Kif1a mouse models; 4 with human KIF1A associations

Human Disease Mouse Models
       Spastic Paraplegia 30, Autosomal Recessive; SPG30   OMIM: 610357 View 2 models
       Mental Retardation, Autosomal Dominant 9; MRD9   OMIM: 614255
Neuropathy, Hereditary Sensory and Autonomic, Type IIA; HSAN2A   OMIM: 201300
Neuropathy, Hereditary Sensory, Type IIC; HSN2C   OMIM: 614213
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    21 phenotypes from 3 alleles in 3 genetic backgrounds
    3 images
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Spontaneous
    2
  • Targeted
    1
  • Genomic Mutations
    2 involving Kif1a
  • Incidental Mutations
Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000048636 VEGA Gene Model | MGI Sequence Detail 86488 C57BL/6J ±  kb
transcript OTTMUST00000124564 VEGA | MGI Sequence Detail 6141 Not Applicable  
polypeptide OTTMUSP00000067752 VEGA | MGI Sequence Detail 1791 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    542 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 334
    cDNA 334

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-11590, MGD-MRK-37431, MGI:2686472
References
more
  • Summaries
    All 40
    Developmental Gene Expression 6
    Diseases 1
    Gene Ontology 5
    Phenotypes 10
  • Earliest
    J:3448 Aizawa H, et al., Kinesin family in murine central nervous system. J Cell Biol. 1992 Dec;119(5):1287-96
  • Latest
    J:222854 Laguna A, et al., Dopaminergic control of autophagic-lysosomal function implicates Lmx1b in Parkinson's disease. Nat Neurosci. 2015 Jun;18(6):826-35

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
05/24/2016
MGI 6.04
The Jackson Laboratory