KIF1A - kinesin family member 1A Gene
Also Known as ATSV; MRD9; HSN2C; SPG30; UNC104; C2orf20; NESCAVS
Species: Homo sapiens
About KIF1A
This gene has 52 transcripts (splice variants), 210 orthologues, 41 paralogues and is associated with 10 phenotypes. Biased expression in brain (RPKM 88.6), adrenal (RPKM 8.2) and 1 other tissue.
Summary
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]
KIF1A Products (24)
| mRNA | Protein | Name |
|---|---|---|
| NM_001244008.2 | NP_001230937.1 | kinesin-like protein KIF1A isoform 1 |
| NM_001320705.2 | NP_001307634.1 | kinesin-like protein KIF1A isoform 3 |
| NM_001330289.2 | NP_001317218.1 | kinesin-like protein KIF1A isoform 4 |
| NM_001330290.2 | NP_001317219.1 | kinesin-like protein KIF1A isoform 5 |
| NM_001379631.1 | NP_001366560.1 | kinesin-like protein KIF1A isoform 6 |
| NM_001379632.1 | NP_001366561.1 | kinesin-like protein KIF1A isoform 7 |
| NM_001379633.1 | NP_001366562.1 | kinesin-like protein KIF1A isoform 8 |
| NM_001379634.1 | NP_001366563.1 | kinesin-like protein KIF1A isoform 9 |
| NM_001379635.1 | NP_001366564.1 | kinesin-like protein KIF1A isoform 10 |
| NM_001379636.1 | NP_001366565.1 | kinesin-like protein KIF1A isoform 11 |
| NM_001379637.1 | NP_001366566.1 | kinesin-like protein KIF1A isoform 12 |
| NM_001379638.1 | NP_001366567.1 | kinesin-like protein KIF1A isoform 13 |
| NM_001379639.1 | NP_001366568.1 | kinesin-like protein KIF1A isoform 14 |
| NM_001379640.1 | NP_001366569.1 | kinesin-like protein KIF1A isoform 15 |
| NM_001379641.1 | NP_001366570.1 | kinesin-like protein KIF1A isoform 16 |
| NM_001379642.1 | NP_001366571.1 | kinesin-like protein KIF1A isoform 17 |
| NM_001379645.1 | NP_001366574.1 | kinesin-like protein KIF1A isoform 8 |
| NM_001379646.1 | NP_001366575.1 | kinesin-like protein KIF1A isoform 10 |
| NM_001379648.1 | NP_001366577.1 | kinesin-like protein KIF1A isoform 19 |
| NM_001379649.1 | NP_001366578.1 | kinesin-like protein KIF1A isoform 18 |
| NM_001379650.1 | NP_001366579.1 | kinesin-like protein KIF1A isoform 2 |
| NM_001379651.1 | NP_001366580.1 | kinesin-like protein KIF1A isoform 2 |
| NM_001379653.1 | NP_001366582.1 | kinesin-like protein KIF1A isoform 2 |
| NM_004321.8 | NP_004312.2 | kinesin-like protein KIF1A isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
22863567 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32814053 | GOA |
KIF1A Protein Structure
Kinesin: Kinesin motor domain (11 - 354)
FHA: FHA domain (517 - 587)
KIF1B: Kinesin protein 1B (805 - 851)
DUF3694: Kinesin protein (1149 - 1296)
PH: PH domain (1577 - 1670)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1690 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
kinesin-like protein KIF1A |
|
KIF1A Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
KIF1A | Q12756 | KIF1B | Homo sapiens | O60333-2 | 32814053 | |
|
Intra
|
KIF1A | Q12756 | KIF1B | Homo sapiens | O60333-2 | 32814053 | |
|
Intra
|
KIF1A | Q12756 | KIF1B | Homo sapiens | O60333-2 | 32814053 | |
|
Intra
|
KIF1A | Q12756 | CTSD | Homo sapiens | P07339 | 32814053 | |
|
Intra
|
KIF1A | Q12756 | CTSD | Homo sapiens | P07339 | 32814053 | |
|
Intra
|
KIF1A | Q12756 | CTSD | Homo sapiens | P07339 | 32814053 | |
|
Intra
|
KIF1A | Q12756 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
KIF1A | Q12756 | KIF1A | Homo sapiens | Q12756 | 22863567 | |
|
Intra
|
KIF1A | Q12756 | SPRED1 | Homo sapiens | Q7Z699 | 32814053 | |
|
Intra
|
KIF1A | Q12756 | TTR | Homo sapiens | P02766 | 32814053 | |
|
Intra
|
KIF1A | Q12756 | SPRED1 | Homo sapiens | Q7Z699 | 32814053 | |
|
Intra
|
KIF1A | Q12756 | TTR | Homo sapiens | P02766 | 32814053 | |
|
Intra
|
KIF1A | Q12756 | KIF1A | Homo sapiens | Q12756 | 22863567 | |
|
Intra
|
KIF1A | Q12756 | KIF1A | Homo sapiens | Q12756 | 15014437 | |
|
Intra
|
KIF1A | Q12756 | KIF1A | Homo sapiens | Q12756 | 22863567 | |
|
Intra
|
KIF1A | Q12756 | TTR | Homo sapiens | P02766 | 32814053 | |
|
Intra
|
KIF1A | Q12756 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
KIF1A | Q12756 | SPRED1 | Homo sapiens | Q7Z699 | 32814053 | |
|
Intra
|
KIF1A | Q12756 | KIF1A | Homo sapiens | Q12756 | 22863567 | |
|
Intra
|
KIF1A | Q12756 | WFS1 | Homo sapiens | O76024 | 32814053 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Nescav Syndrome |
|
|
| Spastic Paraplegia 30, Autosomal Dominant |
|
|
| Neuropathy, Hereditary Sensory, Type Iic |
|
|
| Hereditary Spastic Paraplegia 30 |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
|
| Peho Syndrome |
|
|
| Syndromic Intellectual Disability |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
|
| Kif1a-Associated Neurological Disorder |
|
|
| Paraplegia |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
|
| Neuropathy |
|
|
| Spastic Ataxia |
|
|
| Hereditary Sensory Neuropathy |
|
|
| Spasticity |
|
|
| Hypomagnesemia 6, Renal |
|
|
| Motor Peripheral Neuropathy |
|
|
| Spastic Paraplegia 81, Autosomal Recessive |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
|
| Goldberg-Shprintzen Syndrome |
|
|
| Spastic Ataxia 2 |
|
|
| Chromosome 2q37 Deletion Syndrome |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2a1 |
|
|
| Spastic Paraplegia 10, Autosomal Dominant |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
|
| Spastic Paraplegia 75, Autosomal Recessive |
|
|
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
|
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
|
| Spastic Paraplegia 42, Autosomal Dominant |
|
|
| Valproate Embryopathy |
|
|
| Congenital Fibrosis Of The Extraocular Muscles |
|
|
| Autosomal Dominant Intellectual Developmental Disorder |
|
|
| Spastic Diplegia |
|
|
| Dystonia |
|
|
| Autism Spectrum Disorder |
|
|
| Spastic Paraplegia 2, X-Linked |
|
|
| Autism |
|
|
| Joubert Syndrome 1 |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Neuromuscular Disease |
|
|
| Congenital Nervous System Abnormality |
|
|
| Peripheral Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | KIF1A | VGNC | VGNC:99375 |
| Bos taurus | KIF1A | VGNC | VGNC:30590 |
| Canis familiaris | KIF1A | VGNC | VGNC:42390 |
| Mus musculus | KIF1A | MGD | MGI:108391 |
| Felis catus | KIF1A | VGNC | VGNC:68809 |
| Rattus norvegicus | KIF1A | RGD | RGD:1304996 |
| Others | KIF1A | NCBI |