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Aliases for KIF1A Gene

Aliases for KIF1A Gene

  • Kinesin Family Member 1A 2 3
  • ATSV 3 4 6
  • Axonal Transporter Of Synaptic Vesicles 3 4
  • Unc-104- And KIF1A-Related Protein 3 4
  • Microtubule-Based Motor KIF1A 3 4
  • C2orf20 3 4
  • UNC104 3 6
  • HSN2C 3 6
  • SPG30 3 6
  • MRD9 3 6
  • Kinesin, Heavy Chain, Member 1A, Homolog Of Mouse 3
  • Spastic Paraplegia 30 (Autosomal Recessive) 2
  • Axonal Transport Of Synaptic Vesicles 2
  • Chromosome 2 Open Reading Frame 20 2
  • Kinesin-Like Protein KIF1A 3
  • Tmp_locus_27 3
  • HUnc-104 4

External Ids for KIF1A Gene

Previous Symbols for KIF1A Gene

  • ATSV
  • C2orf20
  • SPG30

Summaries for KIF1A Gene

Entrez Gene Summary for KIF1A Gene

  • The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]

GeneCards Summary for KIF1A Gene

KIF1A (Kinesin Family Member 1A) is a Protein Coding gene. Diseases associated with KIF1A include spastic paraplegia 30 and spastic paraplegia 30, autosomal recessive. GO annotations related to this gene include phospholipid binding and microtubule motor activity. An important paralog of this gene is KIF14.

UniProtKB/Swiss-Prot for KIF1A Gene

  • Motor for anterograde axonal transport of synaptic vesicle precursors.

Gene Wiki entry for KIF1A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIF1A Gene

Genomics for KIF1A Gene

Genomic Location for KIF1A Gene

Start:
240,713,764 bp from pter
End:
240,820,308 bp from pter
Size:
106,545 bases
Orientation:
Minus strand

Genomic View for KIF1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KIF1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF1A Gene

Regulatory Elements for KIF1A Gene

Proteins for KIF1A Gene

  • Protein details for KIF1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12756-KIF1A_HUMAN
    Recommended name:
    Kinesin-like protein KIF1A
    Protein Accession:
    Q12756
    Secondary Accessions:
    • B0I1S5
    • F5H045
    • O95068
    • Q13355
    • Q14752
    • Q2NKJ6
    • Q4LE42
    • Q53T78
    • Q59GH1
    • Q63Z40
    • Q6P1R9
    • Q7KZ57

    Protein attributes for KIF1A Gene

    Size:
    1690 amino acids
    Molecular mass:
    191064 Da
    Quaternary structure:
    • Monomer. Interacts with PPFIA1 and PPFIA4 (By similarity).
    SequenceCaution:
    • Sequence=AAB97363.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAE06111.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAE06111.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact leading to C-terminal exon with non-canonical splice junction.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIF1A Gene

    Alternative splice isoforms for KIF1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIF1A Gene

Proteomics data for KIF1A Gene at MOPED

Post-translational modifications for KIF1A Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys670

No data available for DME Specific Peptides for KIF1A Gene

Domains for KIF1A Gene

Gene Families for KIF1A Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing
  • KIF :Kinesins

UniProtKB/Swiss-Prot:

KIF1A_HUMAN
Domain:
  • Contains 1 FHA domain.:
    • Q12756
  • Contains 1 kinesin motor domain.:
    • Q12756
  • Contains 1 PH domain.:
    • Q12756
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.:
    • Q12756
genes like me logo Genes that share domains with KIF1A: view

Function for KIF1A Gene

Molecular function for KIF1A Gene

UniProtKB/Swiss-Prot Function: Motor for anterograde axonal transport of synaptic vesicle precursors.

Gene Ontology (GO) - Molecular Function for KIF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity TAS 7539720
GO:0003777 microtubule motor activity --
GO:0005515 protein binding --
GO:0005524 ATP binding IEA --
GO:0008017 microtubule binding IEA --
genes like me logo Genes that share ontologies with KIF1A: view
genes like me logo Genes that share phenotypes with KIF1A: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KIF1A Gene

Localization for KIF1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF1A Gene

Cytoplasm, cytoskeleton. Note=Expressed in distal regions of neurites.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIF1A Gene COMPARTMENTS Subcellular localization image for KIF1A gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3
endosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KIF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005871 kinesin complex IBA --
GO:0005874 microtubule IEA --
GO:0043005 neuron projection IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with KIF1A: view

Pathways for KIF1A Gene

SuperPathways for KIF1A Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0007018 microtubule-based movement IBA --
GO:0008089 anterograde axon cargo transport TAS 7539720
GO:0008152 metabolic process TAS 7539720
GO:0008219 cell death --
genes like me logo Genes that share ontologies with KIF1A: view

No data available for Pathways by source for KIF1A Gene

Compounds for KIF1A Gene

(3) Drugbank Compounds for KIF1A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate
target
Adenosine-5'-Diphosphate
20398-34-9 target
Phosphoaminophosphonic Acid-Adenylate Ester
target
genes like me logo Genes that share compounds with KIF1A: view

Transcripts for KIF1A Gene

mRNA/cDNA for KIF1A Gene

(13) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KIF1A Gene

Kinesin family member 1A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIF1A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b ^ 23 ^
SP1:
SP2:
SP3: - -
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37a · 37b ^ 38a · 38b ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^
SP1: - - -
SP2:
SP3:
SP4:
SP5:
SP6: - - - - -
SP7:
SP8:
SP9:
SP10: - - - - - - - - - - - - - - - -
SP11:
SP12:

ExUns: 44a · 44b ^ 45a · 45b ^ 46 ^ 47 ^ 48a · 48b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - - - - -
SP11:
SP12:

Relevant External Links for KIF1A Gene

GeneLoc Exon Structure for
KIF1A
ECgene alternative splicing isoforms for
KIF1A

Expression for KIF1A Gene

mRNA expression in normal human tissues for KIF1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIF1A Gene

This gene is overexpressed in Brain - Cortex (5.7), Brain - Anterior cingulate cortex (BA24) (4.9), Brain - Frontal Cortex (BA9) (4.9), Brain - Amygdala (4.8), and Brain - Hippocampus (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIF1A Gene

SOURCE GeneReport for Unigene cluster for KIF1A Gene Hs.516802

mRNA Expression by UniProt/SwissProt for KIF1A Gene

Q12756-KIF1A_HUMAN
Tissue specificity: Expressed in neurons.
genes like me logo Genes that share expressions with KIF1A: view

Orthologs for KIF1A Gene

This gene was present in the common ancestor of animals.

Orthologs for KIF1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIF1A 36
  • 98.67 (n)
  • 98.86 (a)
KIF1A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIF1A 36
  • 90.61 (n)
  • 97.22 (a)
KIF1A 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIF1A 36
  • 91.48 (n)
  • 98.05 (a)
KIF1A 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kif1a 36
  • 89.17 (n)
  • 97.63 (a)
Kif1a 16
Kif1a 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIF1A 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIF1A 37
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kif1a 36
  • 88.87 (n)
  • 97.63 (a)
chicken
(Gallus gallus)
Aves KIF1A 36
  • 85.45 (n)
  • 95.93 (a)
KIF1A 37
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIF1A 37
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kif1a 36
  • 73.77 (n)
  • 85.32 (a)
Str.17627 36
zebrafish
(Danio rerio)
Actinopterygii kif1a 36
  • 74.48 (n)
  • 85.02 (a)
kif1aa 37
  • 85 (a)
OneToMany
kif1ab 37
  • 80 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta KIF1A_ANOGA 36
  • 61.21 (n)
  • 62.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta unc-104 36
  • 61.15 (n)
  • 61.09 (a)
unc-104 37
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-104 36
  • 52.68 (n)
  • 55.24 (a)
unc-104 37
  • 53 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 46 (a)
OneToMany
Species with no ortholog for KIF1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIF1A Gene

ENSEMBL:
Gene Tree for KIF1A (if available)
TreeFam:
Gene Tree for KIF1A (if available)

Paralogs for KIF1A Gene

genes like me logo Genes that share paralogs with KIF1A: view

Variants for KIF1A Gene

Sequence variations from dbSNP and Humsavar for KIF1A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs4613 -- 240,713,870(+) GGGAC(A/G)GGCGT utr-variant-3-prime
rs14111 -- 240,714,010(-) CTCCC(G/T)GGGCC utr-variant-3-prime
rs734586 -- 240,795,337(-) GTGGG(A/G)TTGAA intron-variant
rs755300 -- 240,713,286(+) CAGTG(C/T)GACGC downstream-variant-500B
rs755301 -- 240,713,491(+) GTCCC(C/T)GGGGA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for KIF1A Gene

Variant ID Type Subtype PubMed ID
nsv876116 CNV Loss 21882294
nsv876144 CNV Loss 21882294
dgv4477n71 CNV Loss 21882294
nsv7337 OTHER Inversion 18451855
nsv470530 CNV Gain 18288195
dgv4479n71 CNV Loss 21882294
nsv876177 CNV Gain+Loss 21882294
dgv4480n71 CNV Loss 21882294
nsv460162 CNV Gain 19166990
dgv4481n71 CNV Gain 21882294
nsv470531 CNV Loss 18288195
nsv519624 CNV Gain+Loss 19592680
nsv460165 CNV Gain 19166990
nsv527844 CNV Gain 19592680
dgv4482n71 CNV Loss 21882294
nsv876184 CNV Loss 21882294
nsv876185 CNV Loss 21882294
nsv876187 CNV Loss 21882294
nsv876188 CNV Loss 21882294
dgv4483n71 CNV Loss 21882294
esv22650 CNV Gain 19812545
esv2721950 CNV Deletion 23290073
nsv460166 CNV Loss 19166990
nsv876191 CNV Loss 21882294
nsv834587 CNV Gain 17160897
nsv526010 CNV Loss 19592680
esv23353 CNV Loss 19812545
esv2659889 CNV Deletion 23128226
esv2721952 CNV Deletion 23290073
esv2662727 CNV Deletion 23128226
esv1760899 CNV Insertion 17803354
esv2721953 CNV Deletion 23290073
esv1477251 CNV Insertion 17803354
nsv460167 CNV Gain 19166990
dgv4484n71 CNV Loss 21882294
dgv4485n71 CNV Loss 21882294
dgv4486n71 CNV Loss 21882294
dgv4487n71 CNV Loss 21882294
esv2568669 CNV Insertion 19546169
nsv512790 CNV Insertion 21212237
esv22959 CNV Loss 19812545

Relevant External Links for KIF1A Gene

HapMap Linkage Disequilibrium report
KIF1A
Human Gene Mutation Database (HGMD)
KIF1A

Disorders for KIF1A Gene

(3) OMIM Diseases for KIF1A Gene (601255)

UniProtKB/Swiss-Prot

KIF1A_HUMAN
  • Spastic paraplegia 30, autosomal recessive (SPG30) [MIM:610357]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. {ECO:0000269 PubMed:21487076}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuropathy, hereditary sensory, 2C (HSN2C) [MIM:614213]: A neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs. {ECO:0000269 PubMed:21820098}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:21376300}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for KIF1A Gene

Relevant External Links for KIF1A

Genetic Association Database (GAD)
KIF1A
genes like me logo Genes that share disorders with KIF1A: view

Publications for KIF1A Gene

  1. The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors. (PMID: 7539720) Okada Y. … Hirokawa N. (Cell 1995) 2 3 23
  2. Characterization of a kinesin-related gene ATSV, within the tuberous sclerosis locus (TSC1) candidate region on chromosome 9q34. (PMID: 8661001) Furlong R.A. … Affara N.A. (Genomics 1996) 3 4 23
  3. Mapping of the kinesin-related gene ATSV to chromosome 2q37. (PMID: 10323250) Keller M.P. … Chance P.F. (Hum. Genet. 1999) 2 3
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for KIF1A Gene

Sources for KIF1A Gene

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