Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KIF5A Gene

Aliases for KIF5A Gene

  • Kinesin Family Member 5A 2 3 5
  • Kinesin Heavy Chain Neuron-Specific 1 3 4
  • Kinesin Heavy Chain Isoform 5A 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
  • ALS25 3
  • MY050 3
  • NEIMY 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 Myoclonus, Intractable, Neonatal. Among its related pathways are Vesicle-mediated transport and Signaling by Rho GTPases. Gene Ontology (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). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation.

Gene Wiki entry for KIF5A Gene

Additional gene information for KIF5A Gene

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

Genomics for KIF5A Gene

GeneHancer (GH) Regulatory Elements for KIF5A Gene

Promoters and enhancers for KIF5A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J057549 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.2 157 2 ZFX ZNF148 GTF2F1 ZBTB7A SP5 EGR1 SMARCA4 GLIS2 GMEB1 POLR2A KIF5A DTX3 GC12M057556
GH12J057551 Promoter/Enhancer 1 Ensembl dbSUPER 600.7 +1.6 1557 0.4 ZBTB11 HDAC2 BCOR ADNP HLTF KDM1A ZMYM3 KIF5A GC12M057556
GH12J057109 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 10.2 -439.0 -438971 4.1 HDGF ZNF473 MTA3 ZNF652 ZFX ELF3 SP1 CC2D1A CTCF ZNF148 STAT6 NEMP1 EEF1AKMT3 ENSG00000257740 BAZ2A PAN2 SMARCC2 CDK4 ANKRD52 DTX3
GH12J057516 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.4 -29.0 -28955 8.8 SP1 CC2D1A ZFX ELF3 ZKSCAN8 MNT CBFA2T2 ZNF148 NKRF POLR2A MBD6 DDIT3 MIR616 ENSG00000285133 NEMP1 BAZ2A RN7SL809P EEF1AKMT3 DTX3 CDK4
GH12J057583 Enhancer 1.1 Ensembl ENCODE 11.3 +35.2 35157 6.8 CC2D1A CTCF MLLT1 SP1 PRDM1 RAD21 CREB1 GLIS2 RXRA ARID2 GC12P057584 ENSG00000224713 ARHGEF25 DCTN2 EEF1AKMT3 SLC26A10 B4GALNT1 KIF5A TSPAN31 AGAP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIF5A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIF5A gene promoter:
  • ATF
  • CUTL1
  • HOXA3
  • PPAR-gamma1
  • PPAR-gamma2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for KIF5A Gene

Genomic Locations for KIF5A Gene
chr12:57,550,044-57,586,633
(GRCh38/hg38)
Size:
36,590 bases
Orientation:
Plus strand
chr12:57,943,781-57,980,415
(GRCh37/hg19)
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. Interacts with FMR1 (via C-terminus); this interaction is increased in a mGluR-dependent manner. Interacts with ZFYVE27. Interacts with VAPA, VAPB, SURF4, RAB11A (GDP-bound form), RAB11B (GDP-bound form) and RTN3 in a ZFYVE27-dependent manner (By similarity). Interacts with BORCS5 (PubMed:25898167). Interacts with BICD2 (PubMed:20386726).
    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

Post-translational modifications for KIF5A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KIF5A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KIF5A Gene

Domains & Families for KIF5A Gene

Gene Families for KIF5A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for KIF5A Gene

GenScript: Design optimal peptide antigens:
  • KIF5A protein (A5D6Y6_HUMAN)
  • Neuronal kinesin heavy chain (KIF5A_HUMAN)

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.
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

UniProtKB/Swiss-Prot Function:
Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation.
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

Phenotypes From GWAS Catalog for KIF5A Gene

Gene Ontology (GO) - Molecular Function for KIF5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity TAS 7514426
GO:0003777 microtubule motor activity IEA,IBA 21873635
GO:0005515 protein binding IPI 20386726
GO:0005524 ATP binding IEA --
GO:0008017 microtubule binding IBA,IEA 21873635
genes like me logo Genes that share ontologies with KIF5A: view
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIF5A

Clone Products

  • Applied Biological Materials (abm): Clones for KIF5A - Now 50% OFF >
  • * KIF5A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * KIF5A tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for KIF5A

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIF5A gene
Compartment Confidence
cytosol 5
cytoskeleton 4
mitochondrion 1
nucleus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitotic spindle (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIF5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005871 kinesin complex IBA,TAS 21873635
GO:0005874 microtubule IEA,IBA 21873635
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:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0007018 microtubule-based movement TAS,IEA --
GO:0007268 chemical synaptic transmission TAS 7514426
GO:0007411 axon guidance IBA 21873635
GO:0016192 vesicle-mediated transport ISS,IEA --
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

(2) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(141) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for KIF5A Gene

Kinesin family member 5A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIF5A

Clone Products

  • Applied Biological Materials (abm): Clones for KIF5A - Now 50% OFF >
  • * KIF5A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * KIF5A tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for KIF5A

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for KIF5A Gene



NURSA nuclear receptor signaling pathways regulating expression of KIF5A Gene:

KIF5A

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.

Evidence on tissue expression from TISSUES for KIF5A Gene

  • Nervous system(5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIF5A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
  • prostate
  • urethra
  • urinary bladder
Limb:
  • ankle
  • foot
  • knee
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with KIF5A: view

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
chimpanzee
(Pan troglodytes)
Mammalia KIF5A 35 34
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KIF5A 35 34
  • 94.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIF5A 35 34
  • 94.12 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kif5a 34
  • 91.2 (n)
mouse
(Mus musculus)
Mammalia Kif5a 17 35 34
  • 90.88 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 75 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia KIF5A 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kif5a 34
  • 80.1 (n)
zebrafish
(Danio rerio)
Actinopterygii kif5aa 35 34
  • 73.92 (n)
OneToMany
kif5ab 35
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Khc 35 36
  • 58 (a)
OneToMany
nod 36
  • 35 (a)
Kif19A 36
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-116 35 36
  • 52 (a)
OneToMany
klp-10 36
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 59 (a)
OneToMany
Species where no ortholog for KIF5A was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KIF5A: view image

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 Variation AA Info Type
rs1012819766 uncertain-significance, Spastic paraplegia 57,569,403(+) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs1057517673 pathogenic, Myoclonus, intractable, neonatal 57,581,881(+) CC/C coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1057519078 pathogenic, Myoclonus, intractable, neonatal 57,581,512(+) CC/C coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1060502522 uncertain-significance, Spastic paraplegia 57,564,496(+) G/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1060502523 uncertain-significance, Spastic paraplegia 57,582,629(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv2651n54 CNV loss 21841781
esv2672290 CNV deletion 23128226
esv2745931 CNV deletion 23290073
esv2759901 CNV gain 17122850
nsv1053930 CNV loss 25217958
nsv428283 CNV gain 18775914
nsv482992 CNV gain+loss 15286789
nsv559034 CNV loss 21841781
nsv724 CNV insertion 18451855
nsv725 CNV deletion 18451855
nsv8975 CNV gain 18304495

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)

Additional Variant Information for KIF5A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIF5A
Human Gene Mutation Database (HGMD)
KIF5A

SNP Genotyping and Copy Number Assay Products

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

Disorders for KIF5A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spastic paraplegia 10, autosomal dominant
  • spg10
myoclonus, intractable, neonatal
  • neimy
amyotrophic lateral sclerosis 25
  • amyotrophic lateral sclerosis, susceptibility to, 25
spastic paraplegia 10
  • spastic paraplegia 10, autosomal dominant
autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation
  • cmt2 due to kif5a mutation
- 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:18203753, 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.
  • Myoclonus, intractable, neonatal (NEIMY) [MIM:617235]: An autosomal dominant neurologic disorder characterized by severe, infantile-onset myoclonic seizures, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. {ECO:0000269 PubMed:24215330, ECO:0000269 PubMed:27414745, ECO:0000269 PubMed:27463701}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Amyotrophic lateral sclerosis 25 (ALS25) [MIM:617921]: A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS25 is an autosomal dominant form with variable adult onset and incomplete penetrance. {ECO:0000269 PubMed:29342275, ECO:0000269 PubMed:29566793}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. The mutation NM_004984.2:c.33019A>G encoding the predicted missence variant p.Arg1007Gly, may also affect splicing and induce the skipping of exon 27, resulting in a frameshift and a premature stop codon producing a truncated protein p.Asn999Valfs*39. {ECO:0000269 PubMed:29342275}.

Additional Disease Information for KIF5A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 MA … Hedera P (Neurogenetics 2006) 2 3 4 23 58
  2. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. (PMID: 18853458) Goizet C … Brice A (Human mutation 2009) 3 4 23 58
  3. Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. (PMID: 18203753) Ebbing B … Woehlke G (Human molecular genetics 2008) 3 4 23 58
  4. Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. (PMID: 15452312) Fichera M … Neri M (Neurology 2004) 3 4 23 58
  5. 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 PJ … Robinson PA (Cytogenetics and cell genetics 1998) 2 3 23 58

Products for KIF5A Gene

Sources for KIF5A Gene

Content
Loading form....