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Aliases for KIF1A Gene

Aliases for KIF1A Gene

  • Kinesin Family Member 1A 2 3 5
  • Axonal Transporter Of Synaptic Vesicles 3 4
  • Unc-104- And KIF1A-Related Protein 3 4
  • Microtubule-Based Motor KIF1A 3 4
  • C2orf20 3 4
  • ATSV 3 4
  • 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
  • Tmp_locus_27 3
  • HUnc-104 4
  • UNC104 3
  • HSN2C 3
  • SPG30 3
  • MRD9 3

External Ids for KIF1A Gene

Previous HGNC Symbols for KIF1A Gene

  • ATSV
  • C2orf20
  • SPG30

Previous GeneCards Identifiers for KIF1A Gene

  • GC02M241975
  • GC02M241973
  • GC02M241373
  • GC02M241653
  • GC02M233413

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, autosomal recessive and neuropathy, hereditary sensory, type iic. Among its related pathways are Platelet activation, signaling and aggregation and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include ATPase activity 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

Regulatory Elements for KIF1A Gene

Promoters for KIF1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIF1A on UCSC Golden Path with GeneCards custom track

Genomic Location for KIF1A Gene

Chromosome:
2
Start:
240,713,764 bp from pter
End:
240,821,025 bp from pter
Size:
107,262 bases
Orientation:
Minus strand

Genomic View for KIF1A Gene

Genes around KIF1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 670
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for KIF1A

No data available for DME Specific Peptides for KIF1A Gene

Domains & Families for KIF1A Gene

Gene Families for KIF1A Gene

Suggested Antigen Peptide Sequences for KIF1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q12756

UniProtKB/Swiss-Prot:

KIF1A_HUMAN :
  • Contains 1 FHA domain.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.
Domain:
  • Contains 1 FHA domain.
  • Contains 1 kinesin motor domain.
  • Contains 1 PH domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.
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:0005515 protein binding IEA --
GO:0008017 microtubule binding IEA --
GO:0016887 ATPase activity IBA --
genes like me logo Genes that share ontologies with KIF1A: view
genes like me logo Genes that share phenotypes with KIF1A: view

Human Phenotype Ontology for KIF1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIF1A Gene

MGI Knock Outs for KIF1A:

Animal Model Products

  • Taconic Biosciences Mouse Models for KIF1A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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. {ECO:0000269 PubMed:25265257}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIF1A Gene COMPARTMENTS Subcellular localization image for KIF1A gene
Compartment Confidence
cytoskeleton 4
cytosol 3
mitochondrion 2
nucleus 2
endosome 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for KIF1A Gene

Pathways & Interactions for KIF1A Gene

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

Gene Ontology (GO) - Biological Process for KIF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with KIF1A: view

No data available for SIGNOR curated interactions for KIF1A Gene

Drugs & Compounds for KIF1A Gene

(2) Drugs for KIF1A Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate Experimental Pharma Target 0
Phosphoaminophosphonic Acid-Adenylate Ester Experimental Pharma Target 0
genes like me logo Genes that share compounds with KIF1A: view

Transcripts for KIF1A Gene

mRNA/cDNA for KIF1A Gene

(14) 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 (x5.7), Brain - Anterior cingulate cortex (BA24) (x4.9), Brain - Frontal Cortex (BA9) (x4.9), Brain - Amygdala (x4.8), and Brain - Hippocampus (x4.4).

Protein differential expression in normal tissues from HIPED for KIF1A Gene

This gene is overexpressed in Brain (23.2), Frontal cortex (13.6), Liver (9.8), Fetal Brain (7.8), and Spinal cord (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with KIF1A: view

Protein tissue co-expression partners for KIF1A Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for KIF1A Gene

This gene was present in the common ancestor of animals.

Orthologs for KIF1A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KIF1A 35
  • 90.61 (n)
  • 97.22 (a)
KIF1A 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIF1A 35
  • 91.48 (n)
  • 98.05 (a)
KIF1A 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kif1a 35
  • 89.17 (n)
  • 97.63 (a)
Kif1a 16
Kif1a 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIF1A 35
  • 98.67 (n)
  • 98.86 (a)
KIF1A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kif1a 35
  • 88.87 (n)
  • 97.63 (a)
oppossum
(Monodelphis domestica)
Mammalia KIF1A 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIF1A 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIF1A 35
  • 85.45 (n)
  • 95.93 (a)
KIF1A 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIF1A 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kif1a 35
  • 73.77 (n)
  • 85.32 (a)
Str.17627 35
zebrafish
(Danio rerio)
Actinopterygii kif1a 35
  • 74.48 (n)
  • 85.02 (a)
kif1aa 36
  • 85 (a)
OneToMany
kif1ab 36
  • 80 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta KIF1A_ANOGA 35
  • 61.21 (n)
  • 62.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta unc-104 35
  • 61.15 (n)
  • 61.09 (a)
unc-104 36
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-104 35
  • 52.68 (n)
  • 55.24 (a)
unc-104 36
  • 53 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
VAR_066649 Mental retardation, autosomal dominant 9 (MRD9)
VAR_066650 -
VAR_075471 -
VAR_075472 Mental retardation, autosomal dominant 9 (MRD9)
VAR_075473 Mental retardation, autosomal dominant 9 (MRD9)

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

Variation tolerance for KIF1A Gene

Residual Variation Intolerance Score: 0.723% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIF1A Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF1A Gene

Disorders for KIF1A Gene

MalaCards: The human disease database

(18) MalaCards diseases for KIF1A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 30, autosomal recessive
  • spg30
neuropathy, hereditary sensory, type iic
  • neuropathy, hereditary sensory, 2c
hereditary spastic paraplegia
  • familial spastic paraplegia
peho syndrome
  • infantile cerebellooptic atrophy
spastic paraplegia 3
  • spg3a
- elite association - COSMIC cancer census association via MalaCards
Search KIF1A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIF1A_HUMAN
  • 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, ECO:0000269 PubMed:25265257, ECO:0000269 PubMed:26125038}. 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.
  • 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.

Relevant External Links for KIF1A

Genetic Association Database (GAD)
KIF1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIF1A
genes like me logo Genes that share disorders with KIF1A: view

No data available for Genatlas for KIF1A Gene

Publications for KIF1A Gene

  1. 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 67
  2. 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
  3. KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. (PMID: 22258533) Klebe S. … Stevanin G. (Eur. J. Hum. Genet. 2012) 2 3
  4. Mapping of the kinesin-related gene ATSV to chromosome 2q37. (PMID: 10323250) Keller M.P. … Chance P.F. (Hum. Genet. 1999) 2 3
  5. HIV-1 capsids bind and exploit the kinesin-1 adaptor FEZ1 for inward movement to the nucleus. (PMID: 25818806) Malikov V. … Naghavi M.H. (Nat Commun 2015) 3

Products for KIF1A Gene

Sources for KIF1A Gene

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