Human Gene KIF1A (ENST00000498729.9) from GENCODE V44
Description: Homo sapiens kinesin family member 1A (KIF1A), transcript variant 6, mRNA. (from RefSeq NM_001379631) RefSeq Summary (NM_001244008): 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]. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation ##RefSeq-Attributes-END## Gencode Transcript: ENST00000498729.9 Gencode Gene: ENSG00000130294.18 Transcript (Including UTRs) Position: hg38 chr2:240,713,767-240,820,219 Size: 106,453 Total Exon Count: 49 Strand: - Coding Region Position: hg38 chr2:240,717,364-240,797,752 Size: 80,389 Coding Exon Count: 48
ID:KIF1A_HUMAN DESCRIPTION: RecName: Full=Kinesin-like protein KIF1A; AltName: Full=Axonal transporter of synaptic vesicles; AltName: Full=Microtubule-based motor KIF1A; AltName: Full=Unc-104- and KIF1A-related protein; Short=hUnc-104; FUNCTION: Motor for anterograde axonal transport of synaptic vesicle precursors (By similarity). SUBUNIT: Monomer. Interacts with PPFIA1 and PPFIA4 (By similarity). SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Note=Expressed in distal regions of neurites. TISSUE SPECIFICITY: Expressed in neurons. DISEASE: Defects in KIF1A are the cause of spastic paraplegia autosomal recessive type 30 (SPG30) [MIM:610357]. SPG30 is 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. DISEASE: Defects in KIF1A are the cause of hereditary sensory neuropathy type 2C (HSN2C) [MIM:614213]. HSN2C is 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. DISEASE: Defects in KIF1A are the cause of mental retardation autosomal dominant type 9 (MRD9) [MIM:614255]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. SIMILARITY: Belongs to the kinesin-like protein family. Unc-104 subfamily. SIMILARITY: Contains 1 FHA domain. SIMILARITY: Contains 1 kinesin-motor domain. SIMILARITY: Contains 1 PH domain. SEQUENCE CAUTION: Sequence=AAB97363.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAE06111.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAE06111.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact leading to C-terminal exon with non-canonical splice junction;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q12756
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0007018 microtubule-based movement GO:0008089 anterograde axonal transport GO:0022027 interkinetic nuclear migration GO:0098840 protein transport along microtubule GO:1990048 anterograde neuronal dense core vesicle transport GO:1990049 retrograde neuronal dense core vesicle transport