Description: Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA. 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## Transcript (Including UTRs) Position: hg19 chr2:241,662,830-241,759,725 Size: 96,896 Total Exon Count: 43 Strand: - Coding Region Position: hg19 chr2:241,662,830-241,737,169 Size: 74,340 Coding Exon Count: 42
Hemoglobin A, Glycosylated Andrew D Paterson et al. Diabetes 2010, A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose., Diabetes.
[PubMed 19875614]
A major locus for A1C and glucose in individuals with diabetes is near SORCS1. This may influence the design and analysis of genetic studies attempting to identify risk factors for long-term diabetic complications.
Hemoglobin A, Glycosylated Andrew D Paterson et al. Diabetes 2010, A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose., Diabetes.
[PubMed 19875614]
A major locus for A1C and glucose in individuals with diabetes is near SORCS1. This may influence the design and analysis of genetic studies attempting to identify risk factors for long-term diabetic complications.
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.
Protein Domain and Structure Information
Pfam Domains: PF00225 - Kinesin motor domain PF00498 - FHA domain PF12423 - Kinesin protein 1B PF12473 - Kinesin protein PF16183 - Kinesin-associated PF16796 - Microtubule binding
ModBase Predicted Comparative 3D Structure on Q12756-2
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.
AB290172 - Homo sapiens mRNA for KIF1A variant protein, complete cds. AB210029 - Homo sapiens mRNA for KIF1A variant protein, partial cds, clone: hh05223. X90840 - H.sapiens mRNA for axonal transporter of synaptic vesicles. AK307119 - Homo sapiens cDNA, FLJ97067. BC111780 - Homo sapiens kinesin family member 1A, mRNA (cDNA clone MGC:133286 IMAGE:40037563), complete cds. BC111799 - Homo sapiens kinesin family member 1A, mRNA (cDNA clone MGC:133285 IMAGE:40037561), complete cds. AB384678 - Synthetic construct DNA, clone: pF1KB0051, Homo sapiens KIF1A gene for kinesin family member 1A, complete cds, without stop codon, in Flexi system. AB587531 - Synthetic construct DNA, clone: pF1KE0700, Homo sapiens KIF1A gene for kinesin family member 1A, without stop codon, in Flexi system. KJ534874 - Homo sapiens clone KIF1A_iso-B_adult-A14 kinesin family member 1A isoform B (KIF1A) mRNA, partial cds, alternatively spliced. KJ534875 - Homo sapiens clone KIF1A_iso-A_fetal-F13 kinesin family member 1A isoform A (KIF1A) mRNA, partial cds, alternatively spliced. KJ534994 - Homo sapiens clone KIF1A_iso-D_fetal-F03 kinesin family member 1A isoform D (KIF1A) mRNA, complete cds, alternatively spliced. KJ535053 - Homo sapiens clone KIF1A_iso-C_fetal-F05 kinesin family member 1A isoform C (KIF1A) mRNA, complete cds, alternatively spliced. BX537556 - Homo sapiens mRNA; cDNA DKFZp686N1746 (from clone DKFZp686N1746). BX649015 - Homo sapiens mRNA; cDNA DKFZp686I2094 (from clone DKFZp686I2094). AB209138 - Homo sapiens mRNA for axonal transport of synaptic vesicles variant protein. AF038173 - Homo sapiens clone 23723 axonal transporter of synaptic vesicles (ATSV) mRNA, partial cds. AF052089 - Homo sapiens clone 23630 and 23737 mRNA sequences. AK297530 - Homo sapiens cDNA FLJ61319 complete cds, highly similar to Kinesin-like protein KIF1A. L79946 - Homo sapiens clone 25553 unknown (HUNC-104) mRNA, partial cds. AK130880 - Homo sapiens cDNA FLJ27370 fis, clone UBA03786, highly similar to Kinesin-like protein KIF1A. U37194 - Human UNC-104- and KIF1A-related protein mRNA, partial cds. DQ575219 - Homo sapiens piRNA piR-43331, complete sequence. BC064906 - Homo sapiens kinesin family member 1A, mRNA (cDNA clone IMAGE:6025756), partial cds. AF004425 - Homo sapiens microtubule-based motor (HsKIF1A) mRNA, partial cds. AB621817 - Homo sapiens KIF1A mRNA for kinesin-like protein KIF1A, partial cds, clone: HP07897-RBdS014C08. JD320736 - Sequence 301760 from Patent EP1572962. MN897723 - Homo sapiens kinesin family member 1A (KIF1A) mRNA, partial cds.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q12756 (Reactome details) participates in the following event(s):
R-HSA-983266 Kinesins bind microtubules R-HSA-6811426 Retrograde COPI vesicles bind kinesin and microtubules R-HSA-6811423 Retrograde vesicle is tethered at the ER by the NRZ complex and t-SNAREs R-HSA-983189 Kinesins R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic R-HSA-983231 Factors involved in megakaryocyte development and platelet production R-HSA-8856688 Golgi-to-ER retrograde transport R-HSA-109582 Hemostasis R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic R-HSA-199991 Membrane Trafficking R-HSA-5653656 Vesicle-mediated transport