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Aliases for KIF5A Gene

Aliases for KIF5A Gene

  • Kinesin Family Member 5A 2 3 5
  • Kinesin Heavy Chain Neuron-Specific 1 3 4
  • Neuronal Kinesin Heavy Chain 3 4
  • NKHC 3 4
  • Spastic Paraplegia 10 (Autosomal Dominant) 2
  • Kinesin, Heavy Chain, Neuron-Specific 3
  • KIF5A Variant Protein 3
  • D12S1889 3
  • MY050 3
  • SPG10 3
  • NKHC1 4

External Ids for KIF5A Gene

Previous HGNC Symbols for KIF5A Gene

  • SPG10

Previous GeneCards Identifiers for KIF5A Gene

  • GC12M059133
  • GC12P058087
  • GC12P057660
  • GC12P056230
  • GC12P057943
  • GC12P054981

Summaries for KIF5A Gene

Entrez Gene Summary for KIF5A Gene

  • This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]

GeneCards Summary for KIF5A Gene

KIF5A (Kinesin Family Member 5A) is a Protein Coding gene. Diseases associated with KIF5A include Spastic Paraplegia 10, Autosomal Dominant and Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Kif5a Mutation. Among its related pathways are Golgi-to-ER retrograde transport and Signaling by Rho GTPases. GO annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is KIF5C.

UniProtKB/Swiss-Prot for KIF5A Gene

  • Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL).

Gene Wiki entry for KIF5A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIF5A Gene

Genomics for KIF5A Gene

Regulatory Elements for KIF5A Gene

Enhancers for KIF5A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KIF5A on UCSC Golden Path with GeneCards custom track

Promoters for KIF5A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIF5A on UCSC Golden Path with GeneCards custom track

Genomic Location for KIF5A Gene

Chromosome:
12
Start:
57,549,998 bp from pter
End:
57,586,632 bp from pter
Size:
36,635 bases
Orientation:
Plus strand

Genomic View for KIF5A Gene

Genes around KIF5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF5A Gene

Proteins for KIF5A Gene

  • Protein details for KIF5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12840-KIF5A_HUMAN
    Recommended name:
    Kinesin heavy chain isoform 5A
    Protein Accession:
    Q12840
    Secondary Accessions:
    • A6H8M5
    • Q4LE26

    Protein attributes for KIF5A Gene

    Size:
    1032 amino acids
    Molecular mass:
    117378 Da
    Quaternary structure:
    • Oligomer composed of two heavy chains and two light chains. Interacts with GRIP1 (By similarity).
    SequenceCaution:
    • Sequence=BAE06127.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIF5A Gene

neXtProt entry for KIF5A Gene

Proteomics data for KIF5A Gene at MOPED

Post-translational modifications for KIF5A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KIF5A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for KIF5A Gene

Domains & Families for KIF5A Gene

Gene Families for KIF5A Gene

Protein Domains for KIF5A Gene

Suggested Antigen Peptide Sequences for KIF5A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q12840

UniProtKB/Swiss-Prot:

KIF5A_HUMAN :
  • Composed of three structural domains: a large globular N-terminal domain which is responsible for the motor activity of kinesin (it hydrolyzes ATP and binds microtubule), a central alpha-helical coiled coil domain that mediates the heavy chain dimerization; and a small globular C-terminal domain which interacts with other proteins (such as the kinesin light chains), vesicles and membranous organelles.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily.
Domain:
  • Composed of three structural domains: a large globular N-terminal domain which is responsible for the motor activity of kinesin (it hydrolyzes ATP and binds microtubule), a central alpha-helical coiled coil domain that mediates the heavy chain dimerization; and a small globular C-terminal domain which interacts with other proteins (such as the kinesin light chains), vesicles and membranous organelles.
  • Contains 1 kinesin motor domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily.
genes like me logo Genes that share domains with KIF5A: view

Function for KIF5A Gene

Molecular function for KIF5A Gene

GENATLAS Biochemistry:
kinesin heavy chain member 3A,involved in neuronal cellular functioning,amplified in certain tumors,homolog to Drosophila costal 2, associating to cubitus interruptus (CI) in the hedgehog pathways
UniProtKB/Swiss-Prot Function:
Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL).
genes like me logo Genes that share phenotypes with KIF5A: view

Human Phenotype Ontology for KIF5A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIF5A Gene

MGI Knock Outs for KIF5A:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for KIF5A Gene

Localization for KIF5A Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF5A Gene

Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. Note=Concentrated in the cell body of the neurons, particularly in the perinuclear region. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIF5A Gene COMPARTMENTS Subcellular localization image for KIF5A gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2

Gene Ontology (GO) - Cellular Components for KIF5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043025 neuronal cell body IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with KIF5A: view

Pathways & Interactions for KIF5A Gene

genes like me logo Genes that share pathways with KIF5A: view

Gene Ontology (GO) - Biological Process for KIF5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IEA,TAS --
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
genes like me logo Genes that share ontologies with KIF5A: view

No data available for SIGNOR curated interactions for KIF5A Gene

Drugs & Compounds for KIF5A Gene

(2) Drugs for KIF5A Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
GSK-923295 Investigational Pharma CENP-E inhibitor,small-molecule, Kinesin protein inhibitors 0
MPI-0479605 Pharma Mps1 inhibitor,selective and ATP competitive 0

(2) ApexBio Compounds for KIF5A Gene

Compound Action Cas Number
GSK-923295 CENP-E inhibitor,small-molecule 1088965-37-0
MPI-0479605 Mps1 inhibitor,selective and ATP competitive 1246529-32-7
genes like me logo Genes that share compounds with KIF5A: view

Transcripts for KIF5A Gene

mRNA/cDNA for KIF5A Gene

Unigene Clusters for KIF5A Gene

Kinesin family member 5A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIF5A Gene

No ASD Table

Relevant External Links for KIF5A Gene

GeneLoc Exon Structure for
KIF5A
ECgene alternative splicing isoforms for
KIF5A

Expression for KIF5A Gene

mRNA expression in normal human tissues for KIF5A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIF5A Gene

This gene is overexpressed in Brain - Cortex (x8.9), Brain - Frontal Cortex (BA9) (x8.2), Brain - Anterior cingulate cortex (BA24) (x7.6), Brain - Amygdala (x7.0), and Brain - Hippocampus (x5.0).

Protein differential expression in normal tissues from HIPED for KIF5A Gene

This gene is overexpressed in Plasma (22.9) and Nasal epithelium (16.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIF5A Gene



SOURCE GeneReport for Unigene cluster for KIF5A Gene Hs.151219

mRNA Expression by UniProt/SwissProt for KIF5A Gene

Q12840-KIF5A_HUMAN
Tissue specificity: Distributed throughout the CNS but is highly enriched in subsets of neurons.
genes like me logo Genes that share expression patterns with KIF5A: view

Primer Products

No data available for Protein tissue co-expression partners for KIF5A Gene

Orthologs for KIF5A Gene

This gene was present in the common ancestor of animals.

Orthologs for KIF5A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KIF5A 35
  • 94.12 (n)
  • 98.93 (a)
KIF5A 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIF5A 35
  • 94.38 (n)
  • 99.03 (a)
KIF5A 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kif5a 35
  • 90.88 (n)
  • 98.15 (a)
Kif5a 16
Kif5a 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIF5A 35
  • 99.74 (n)
  • 99.9 (a)
KIF5A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kif5a 35
  • 91.2 (n)
  • 97.27 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 75 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia KIF5A 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kif5a 35
  • 80.1 (n)
  • 88.88 (a)
zebrafish
(Danio rerio)
Actinopterygii kif5aa 35
  • 73.92 (n)
  • 74.51 (a)
kif5aa 36
  • 73 (a)
OneToMany
kif5ab 36
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Khc 37
  • 59 (a)
Kif19A 37
  • 29 (a)
nod 37
  • 35 (a)
Khc 36
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea klp-10 37
  • 28 (a)
unc-116 37
  • 47 (a)
unc-116 36
  • 52 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
OneToMany
Species with no ortholog for KIF5A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 KIF5A Gene

ENSEMBL:
Gene Tree for KIF5A (if available)
TreeFam:
Gene Tree for KIF5A (if available)

Paralogs for KIF5A Gene

genes like me logo Genes that share paralogs with KIF5A: view

Variants for KIF5A Gene

Sequence variations from dbSNP and Humsavar for KIF5A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_032842 Spastic paraplegia 10, autosomal dominant (SPG10)
VAR_032843 Spastic paraplegia 10, autosomal dominant (SPG10)
rs121434444 Spastic paraplegia 10, autosomal dominant (SPG10) 57,569,648(+) GATTG(C/T)GAAGC reference, missense
VAR_033108 Spastic paraplegia 10, autosomal dominant (SPG10)
VAR_046744 Spastic paraplegia 10, autosomal dominant (SPG10)

Structural Variations from Database of Genomic Variants (DGV) for KIF5A Gene

Variant ID Type Subtype PubMed ID
nsv899118 CNV Gain 21882294
dgv513e1 CNV Complex 17122850
nsv428283 CNV Gain 18775914
nsv724 CNV Insertion 18451855
nsv8975 CNV Gain 18304495
esv2672290 CNV Deletion 23128226
esv2745931 CNV Deletion 23290073
nsv725 CNV Loss 18451855

Variation tolerance for KIF5A Gene

Residual Variation Intolerance Score: 1.95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.86; 34.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIF5A Gene

Human Gene Mutation Database (HGMD)
KIF5A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF5A Gene

Disorders for KIF5A Gene

MalaCards: The human disease database

(7) MalaCards diseases for KIF5A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 10, autosomal dominant
  • spg10
autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation
  • cmt2 due to kif5a mutation
spastic paraplegia 10
  • spastic paraplegia 10, autosomal dominant
paraplegia
  • paraplegia, lower
hereditary spastic paraplegia
  • familial spastic paraplegia
- elite association - COSMIC cancer census association via MalaCards
Search KIF5A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIF5A_HUMAN
  • Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]: 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. {ECO:0000269 PubMed:12355402, ECO:0000269 PubMed:15452312, ECO:0000269 PubMed:16476820, ECO:0000269 PubMed:16489470, ECO:0000269 PubMed:18245137, ECO:0000269 PubMed:18853458, ECO:0000269 PubMed:21107874}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KIF5A

Genetic Association Database (GAD)
KIF5A
Human Genome Epidemiology (HuGE) Navigator
KIF5A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIF5A
genes like me logo Genes that share disorders with KIF5A: view

No data available for Genatlas for KIF5A Gene

Publications for KIF5A Gene

  1. Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. (PMID: 16489470) Blair M.A. … Hedera P. (Neurogenetics 2006) 2 3 4 23 67
  2. Assignment of GALGT encoding beta-1, 4N-acetylgalactosaminyl-transferase (GalNAc-T) and KIF5A encoding neuronal kinesin (D12S1889) to human chromosome band 12q13 by assignment to ICI YAC 26EG10 and in situ hybridization. medjph@stjames.leeds.ac.uk. (PMID: 9858832) Hamlin P.J. … Robinson P.A. (Cytogenet. Cell Genet. 1998) 2 3 23
  3. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. (PMID: 18853458) Goizet C. … Brice A. (Hum. Mutat. 2009) 3 23
  4. Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. (PMID: 18203753) Ebbing B. … Woehlke G. (Hum. Mol. Genet. 2008) 3 23
  5. Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. (PMID: 15452312) Fichera M. … Neri M. (Neurology 2004) 3 23

Products for KIF5A Gene

Sources for KIF5A Gene

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