KIF1A (kinesin family member 1A) - Rat Genome Database

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Gene: KIF1A (kinesin family member 1A) Homo sapiens
Analyze
Symbol: KIF1A
Name: kinesin family member 1A
RGD ID: 1312759
HGNC Page HGNC
Description: Enables identical protein binding activity. Predicted to be involved in several processes, including dense core granule cytoskeletal transport; regulation of dendritic spine development; and regulation of dendritic spine morphogenesis. Predicted to be located in neuron projection and neuronal dense core vesicle. Predicted to be extrinsic component of neuronal dense core vesicle membrane. Predicted to be part of kinesin complex. Predicted to be active in axon; dendrite; and microtubule. Implicated in NESCAV syndrome; hereditary sensory neuropathy; hereditary sensory neuropathy type 2C; hereditary spastic paraplegia; and hereditary spastic paraplegia 30.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATSV; axonal transport of synaptic vesicles; axonal transporter of synaptic vesicles; C2orf20; chromosome 2 open reading frame 20; DKFZp686I2094; FLJ30229; HSN2C; HUNC-104; kinesin, heavy chain, member 1A, homolog of mouse; kinesin-like protein KIF1A; MGC133285; MGC133286; microtubule-based motor KIF1A; MRD9; NESCAVS; spastic paraplegia 30 (autosomal recessive); SPG30; tmp_locus_27; unc-104- and KIF1A-related protein; UNC104
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2240,713,761 - 240,824,293 (-)EnsemblGRCh38hg38GRCh38
GRCh382240,713,767 - 240,821,403 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,653,184 - 241,760,820 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,301,857 - 241,408,297 (-)NCBINCBI36hg18NCBI36
Celera2235,326,008 - 235,411,535 (-)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2233,412,721 - 233,497,777 (-)NCBIHuRef
CHM1_12241,659,240 - 241,765,801 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cortical bone morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal hip bone morphology  (IAGP)
Abnormal hippocampus morphology  (IAGP)
Abnormal palate morphology  (IAGP)
Abnormal saccadic eye movements  (IAGP)
Abnormality of epiphysis morphology  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of the ankles  (IAGP)
Abnormality of the cervical spine  (IAGP)
Abnormality of the diaphragm  (IAGP)
Abnormality of the knee  (IAGP)
Abnormality of the vertebral column  (IAGP)
Abnormality of upper lip  (IAGP)
Absent speech  (IAGP)
Acral ulceration  (IAGP)
Anhidrosis  (IAGP)
Ankle clonus  (IAGP)
Anteverted nares  (IAGP)
Arachnodactyly  (IAGP)
Areflexia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Ataxia  (IAGP)
Atonic seizure  (IAGP)
Atrophy/Degeneration affecting the brainstem  (IAGP)
Autistic behavior  (IAGP)
Autoamputation of digits  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral generalized polymicrogyria  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Biparietal narrowing  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Chorea  (IAGP)
Cleft palate  (IAGP)
Clonus  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased corneal reflex  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Decreased number of peripheral myelinated nerve fibers  (IAGP)
Decreased sensory nerve conduction velocity  (IAGP)
Diaphragmatic eventration  (IAGP)
Diffuse cerebellar atrophy  (IAGP)
Dilation of lateral ventricles  (IAGP)
Distal amyotrophy  (IAGP)
Distal sensory impairment  (IAGP)
Drowsiness  (IAGP)
Duane anomaly  (IAGP)
Dyskinesia  (IAGP)
Dysmetria  (IAGP)
Dystrophic fingernails  (IAGP)
Dystrophic toenail  (IAGP)
Epicanthus  (IAGP)
Epileptic spasm  (IAGP)
Episodic hyperhidrosis  (IAGP)
External ear malformation  (IAGP)
Eyelid myoclonus  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flexion contracture  (IAGP)
Focal emotional seizure with laughing  (IAGP)
Focal impaired awareness seizure  (IAGP)
Focal motor seizure  (IAGP)
Foot acroosteolysis  (IAGP)
Full cheeks  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hyperhidrosis  (IAGP)
Hyperlordosis  (IAGP)
Hyperreflexia  (IAGP)
Hypogeusia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Inability to walk  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Laryngomalacia  (IAGP)
Leg muscle stiffness  (IAGP)
Leukoencephalopathy  (IAGP)
Limitation of joint mobility  (IAGP)
Lower limb amyotrophy  (IAGP)
Lower limb hyperreflexia  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb spasticity  (IAGP)
Macrotia  (IAGP)
Malar flattening  (IAGP)
Microcephaly  (IAGP)
Microglossia  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Oculogyric crisis  (IAGP)
Open mouth  (IAGP)
Optic atrophy  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Osteolytic defects of the phalanges of the hand  (IAGP)
Painless fractures due to injury  (IAGP)
Palpebral edema  (IAGP)
Paronychia  (IAGP)
Pedal edema  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral edema  (IAGP)
Peripheral neuropathy  (IAGP)
Poor speech  (IAGP)
Porencephalic cyst  (IAGP)
Progressive  (IAGP)
Progressive spastic paraplegia  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced bone mineral density  (IAGP)
Retrognathia  (IAGP)
Scissor gait  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe muscular hypotonia  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep disturbance  (IAGP)
Slowly progressive  (IAGP)
Small hand  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Stereotypy  (IAGP)
Talipes equinovarus  (IAGP)
Tapered finger  (IAGP)
Typical absence seizure  (IAGP)
Unsteady gait  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Variable expressivity  (IAGP)
Ventriculomegaly  (IAGP)
Visual loss  (IAGP)
Widened subarachnoid space  (IAGP)
Wormian bones  (IAGP)
References

Additional References at PubMed
PMID:1538749   PMID:1846075   PMID:7539720   PMID:7937745   PMID:8619474   PMID:8661001   PMID:8889548   PMID:9110174   PMID:10323250   PMID:10737800   PMID:11701947   PMID:12435738  
PMID:12477932   PMID:12522103   PMID:14702039   PMID:15014437   PMID:15489334   PMID:15604093   PMID:15722511   PMID:15815621   PMID:16434418   PMID:16946706   PMID:18029348   PMID:20162572  
PMID:20195357   PMID:20301682   PMID:21089229   PMID:21697133   PMID:21824248   PMID:21873635   PMID:22586326   PMID:22863567   PMID:23404705   PMID:23669038   PMID:24722188   PMID:24797263  
PMID:24927296   PMID:25585697   PMID:25659891   PMID:25818806   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26354034   PMID:26410750   PMID:26486474   PMID:26638075   PMID:27034427  
PMID:27851960   PMID:28065597   PMID:28332297   PMID:28380382   PMID:28514442   PMID:28611215   PMID:28675297   PMID:28970574   PMID:28985824   PMID:29128334   PMID:29547997   PMID:29568061  
PMID:29676528   PMID:30179486   PMID:30770469   PMID:30948266   PMID:31073040   PMID:31091453   PMID:31488895   PMID:31512412   PMID:31527615   PMID:31586073   PMID:31589786   PMID:31678930  
PMID:31805580   PMID:31983434   PMID:31995633   PMID:32045731   PMID:32096284   PMID:32174959   PMID:32511265   PMID:32814053   PMID:34079125  


Genomics

Comparative Map Data
KIF1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2240,713,761 - 240,824,293 (-)EnsemblGRCh38hg38GRCh38
GRCh382240,713,767 - 240,821,403 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,653,184 - 241,760,820 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,301,857 - 241,408,297 (-)NCBINCBI36hg18NCBI36
Celera2235,326,008 - 235,411,535 (-)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2233,412,721 - 233,497,777 (-)NCBIHuRef
CHM1_12241,659,240 - 241,765,801 (-)NCBICHM1_1
Kif1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39192,943,177 - 93,029,760 (-)NCBIGRCm39mm39
GRCm39 Ensembl192,943,186 - 93,029,673 (-)Ensembl
GRCm38193,015,455 - 93,102,039 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl193,015,464 - 93,101,951 (-)EnsemblGRCm38mm10GRCm38
MGSCv37194,912,033 - 94,998,442 (-)NCBIGRCm37mm9NCBIm37
MGSCv36194,848,684 - 94,932,228 (-)NCBImm8
Celera195,964,533 - 96,050,948 (-)NCBICelera
Cytogenetic Map1DNCBI
Kif1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2993,563,033 - 93,647,412 (-)NCBI
Rnor_6.0 Ensembl9100,171,772 - 100,253,609 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.09100,171,851 - 100,253,626 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0999,830,158 - 99,911,717 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4992,296,552 - 92,368,316 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1992,489,616 - 92,573,089 (-)NCBI
Celera991,101,708 - 91,183,111 (-)NCBICelera
Cytogenetic Map9q36NCBI
Kif1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955542756,835 - 832,889 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955542756,834 - 832,805 (+)NCBIChiLan1.0ChiLan1.0
KIF1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B246,774,669 - 246,883,469 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B246,778,679 - 246,860,326 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B127,969,494 - 128,078,282 (-)NCBIMhudiblu_PPA_v0panPan3
KIF1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12550,855,703 - 50,945,014 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2550,858,698 - 50,944,964 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2551,072,045 - 51,136,473 (-)NCBI
ROS_Cfam_1.02551,053,878 - 51,118,327 (-)NCBI
UMICH_Zoey_3.12550,894,784 - 50,959,304 (-)NCBI
UNSW_CanFamBas_1.02550,641,341 - 50,705,691 (-)NCBI
UU_Cfam_GSD_1.02550,917,144 - 50,981,524 (-)NCBI
Kif1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303192,242,542 - 192,307,773 (-)NCBI
SpeTri2.0NW_004936745911,651 - 976,878 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KIF1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15139,610,626 - 139,694,826 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115139,610,624 - 139,694,841 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215157,512,025 - 157,563,535 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KIF1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110126,784,843 - 126,890,649 (-)NCBI
ChlSab1.1 Ensembl10126,781,589 - 126,867,219 (-)Ensembl
Vero_WHO_p1.0NW_02366604072,498,200 - 72,611,057 (+)NCBI
Kif1a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248474,961,552 - 5,035,125 (-)NCBI

Position Markers
D2S140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,739,474 - 241,739,623UniSTSGRCh37
GRCh372241,739,462 - 241,739,616UniSTSGRCh37
Build 362241,388,135 - 241,388,289RGDNCBI36
Celera2235,413,768 - 235,413,922RGD
Celera2235,413,780 - 235,413,929UniSTS
Cytogenetic Map2q37.3UniSTS
HuRef2233,500,030 - 233,500,185UniSTS
HuRef2233,500,018 - 233,500,178UniSTS
Marshfield Genetic Map2263.56RGD
Marshfield Genetic Map2263.56UniSTS
Genethon Genetic Map2272.5UniSTS
TNG Radiation Hybrid Map2135566.0UniSTS
deCODE Assembly Map2259.43UniSTS
Stanford-G3 RH Map29322.0UniSTS
Whitehead-RH Map21077.5UniSTS
NCBI RH Map21905.3UniSTS
GeneMap99-G3 RH Map210161.0UniSTS
RH47481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,656,484 - 241,656,603UniSTSGRCh37
Build 362241,305,157 - 241,305,276RGDNCBI36
Celera2235,329,308 - 235,329,427RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,416,024 - 233,416,143UniSTS
GeneMap99-GB4 RH Map2742.01UniSTS
NCBI RH Map21915.5UniSTS
G42187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,653,264 - 241,653,354UniSTSGRCh37
Build 362241,301,937 - 241,302,027RGDNCBI36
Celera2235,326,088 - 235,326,178RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,412,804 - 233,412,894UniSTS
G54130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,653,214 - 241,653,353UniSTSGRCh37
Build 362241,301,887 - 241,302,026RGDNCBI36
Celera2235,326,038 - 235,326,177RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,412,754 - 233,412,893UniSTS
G31188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,669,812 - 241,669,932UniSTSGRCh37
Build 362241,318,485 - 241,318,605RGDNCBI36
Celera2235,342,632 - 235,342,752RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,429,349 - 233,429,469UniSTS
G31189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,675,400 - 241,675,516UniSTSGRCh37
Build 362241,324,073 - 241,324,189RGDNCBI36
Celera2235,348,220 - 235,348,336RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,434,962 - 233,435,078UniSTS
G31190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,736,388 - 241,736,591UniSTSGRCh37
Build 362241,385,061 - 241,385,264RGDNCBI36
Celera2235,410,694 - 235,410,897RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,496,934 - 233,497,137UniSTS
KIF1A_8222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,653,190 - 241,653,912UniSTSGRCh37
Build 362241,301,863 - 241,302,585RGDNCBI36
Celera2235,326,014 - 235,326,736RGD
HuRef2233,412,730 - 233,413,452UniSTS
A002D44  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,653,211 - 241,653,422UniSTSGRCh37
Build 362241,301,884 - 241,302,095RGDNCBI36
Celera2235,326,035 - 235,326,246RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,412,751 - 233,412,962UniSTS
GeneMap99-GB4 RH Map2742.01UniSTS
NCBI RH Map21915.5UniSTS
ha3288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,714,355 - 241,714,896UniSTSGRCh37
Celera2235,387,176 - 235,387,717UniSTS
HuRef1111,716,142 - 11,716,449UniSTS
HuRef5125,369,964 - 125,370,075UniSTS
HuRef1143,546,074 - 143,546,373UniSTS
HuRef2233,473,946 - 233,474,487UniSTS
HuRef1200,790,082 - 200,790,199UniSTS
D2S140  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q37.3UniSTS
TNG Radiation Hybrid Map2135566.0UniSTS
Stanford-G3 RH Map29322.0UniSTS
NCBI RH Map21902.3UniSTS
GeneMap99-G3 RH Map210161.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7822
Count of miRNA genes:1216
Interacting mature miRNAs:1607
Transcripts:ENST00000320389, ENST00000404283, ENST00000415042, ENST00000428768, ENST00000431776, ENST00000448728, ENST00000460788, ENST00000463388, ENST00000465813, ENST00000488776, ENST00000492812, ENST00000494452, ENST00000498729
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High