Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

KIF1A_HUMAN

GO
G2C
SynGO

Motor for anterograde axonal transport of synaptic vesicle precursors. Also required for neuronal dense core vesicles (DCVs) transport to the dendritic spines and axons. The interaction calcium-dependent with CALM1 increases vesicle motility and interaction with the scaffolding proteins PPFIA2 and TANC2 recruits DCVs to synaptic sites. [View more on UniProt]

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Position Amino acid Mutation Disease Overlap with binding region
99 Thr Met NESCAVsyndrome(NESCAVS) -
255 Ala Val Spasticparaplegia30(SPG30) -
58 Ser Leu NESCAVsyndrome(NESCAVS) -
102 Gly Asp NESCAVsyndrome(NESCAVS) -
144 Val Phe NESCAVsyndrome(NESCAVS) -
167 Arg Cys NESCAVsyndrome(NESCAVS) -
167 Arg Cys Spasticparaplegia30(SPG30) -
202 Ala Pro NESCAVsyndrome(NESCAVS) -
215 Ser Arg NESCAVsyndrome(NESCAVS) -
216 Arg Cys NESCAVsyndrome(NESCAVS) -
216 Arg His NESCAVsyndrome(NESCAVS) -
216 Arg Pro NESCAVsyndrome(NESCAVS) -
249 Leu Gln NESCAVsyndrome(NESCAVS) -
253 Glu Lys NESCAVsyndrome(NESCAVS) -
316 Arg Trp NESCAVsyndrome(NESCAVS) -
350 Arg Gly Spasticparaplegia30(SPG30) -
69 Ser Leu Spasticparaplegia30(SPG30) -
102 Gly Ser Spasticparaplegia30(SPG30) -
11 Arg Gln Spasticparaplegia30(SPG30) -
11 Arg Trp Spasticparaplegia30(SPG30) -
78 Gly Ser Spasticparaplegia30(SPG30) -
106 Thr Asn Spasticparaplegia30(SPG30) -
148 Glu Asp NESCAVsyndrome(NESCAVS) -
167 Arg His Spasticparaplegia30(SPG30) -
173 Leu Pro Spasticparaplegia30(SPG30) -
186 Val Phe NESCAVsyndrome(NESCAVS) -
199 Gly Arg NESCAVsyndrome(NESCAVS) -
252 Ser Arg Spasticparaplegia30(SPG30) -
254 Arg Gln NESCAVsyndrome(NESCAVS) -
254 Arg Trp NESCAVsyndrome(NESCAVS) -
258 Thr Met Spasticparaplegia30(SPG30) -
307 Arg Pro NESCAVsyndrome(NESCAVS) -
307 Arg Gln NESCAVsyndrome(NESCAVS) -
323 Ser Pro NESCAVsyndrome(NESCAVS) -
350 Arg Trp Spasticparaplegia30(SPG30) -

No annotated instance was found. To search for linear motifs, use the ELM prediction server.

Molecular function

Term Name % Distance from the top of the tree Annotated in KIF1A_HUMAN
GO:0017076 purine nucleotide binding 29.0323 4 yes
GO:0032555 purine ribonucleotide binding 29.0323 4 yes
GO:0035639 purine ribonucleoside triphosphate binding 29.0323 4 yes
GO:0016462 pyrophosphatase activity 25.8065 5 yes
GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides 25.8065 4 yes
GO:0017111 ribonucleoside triphosphate phosphatase activity 25.8065 6 yes
GO:0005524 ATP binding 16.1290 5 yes
GO:0030554 adenyl nucleotide binding 16.1290 5 yes
GO:0032559 adenyl ribonucleotide binding 16.1290 5 yes
GO:0008017 microtubule binding 12.9032 5 yes
GO:0015631 tubulin binding 12.9032 4 yes
GO:0016887 ATP hydrolysis activity 12.9032 7 yes

Biological process

Term Name % Distance from top the of the tree Annotated in KIF1A_HUMAN
GO:0048522 positive regulation of cellular process 67.7419 4 no
GO:0010646 regulation of cell communication 54.8387 4 no
GO:0051128 regulation of cellular component organization 48.3871 4 yes
GO:0006996 organelle organization 45.1613 4 no
GO:0009966 regulation of signal transduction 38.7097 4 no
GO:0008104 protein localization 35.4839 4 no
GO:0048523 negative regulation of cellular process 35.4839 4 no
GO:0060255 regulation of macromolecule metabolic process 35.4839 4 no
GO:0080090 regulation of primary metabolic process 35.4839 4 no
GO:0051049 regulation of transport 32.2581 4 no
GO:0009893 positive regulation of metabolic process 32.2581 4 no
GO:0010604 positive regulation of macromolecule metabolic process 32.2581 5 no
GO:0031323 regulation of cellular metabolic process 32.2581 4 no
GO:0051171 regulation of nitrogen compound metabolic process 32.2581 4 no
GO:0051173 positive regulation of nitrogen compound metabolic process 32.2581 5 no
GO:0051246 regulation of protein metabolic process 32.2581 5 no
GO:0051247 positive regulation of protein metabolic process 32.2581 6 no
GO:0010647 positive regulation of cell communication 29.0323 5 no
GO:0023056 positive regulation of signaling 29.0323 4 no
GO:0030030 cell projection organization 29.0323 4 no
GO:0050804 modulation of chemical synaptic transmission 25.8065 5 no
GO:0051050 positive regulation of transport 25.8065 4 no
GO:0099177 regulation of trans-synaptic signaling 25.8065 4 no
GO:1902531 regulation of intracellular signal transduction 25.8065 5 no
GO:0031325 positive regulation of cellular metabolic process 25.8065 5 no
GO:0048584 positive regulation of response to stimulus 25.8065 4 no
GO:0016192 vesicle-mediated transport 22.5806 4 yes
GO:0031344 regulation of cell projection organization 22.5806 5 yes
GO:0043269 regulation of ion transport 22.5806 5 no
GO:0120036 plasma membrane bounded cell projection organization 22.5806 5 no
GO:0031399 regulation of protein modification process 22.5806 6 no
GO:0031401 positive regulation of protein modification process 22.5806 7 no
GO:0022607 cellular component assembly 22.5806 4 no
GO:0009967 positive regulation of signal transduction 22.5806 5 no
GO:0022603 regulation of anatomical structure morphogenesis 19.3548 4 yes
GO:0030705 cytoskeleton-dependent intracellular transport 19.3548 4 yes
GO:0051650 establishment of vesicle localization 19.3548 4 yes
GO:0120035 regulation of plasma membrane bounded cell projection organization 19.3548 6 yes
GO:0010970 transport along microtubule 16.1290 4 yes
GO:0010975 regulation of neuron projection development 16.1290 7 yes
GO:0016482 cytosolic transport 16.1290 4 yes
GO:0099111 microtubule-based transport 16.1290 4 yes
GO:0008088 axo-dendritic transport 12.9032 5 yes
GO:0008089 anterograde axonal transport 12.9032 7 yes
GO:0047496 vesicle transport along microtubule 12.9032 5 yes
GO:0050807 regulation of synapse organization 12.9032 5 yes
GO:0072384 organelle transport along microtubule 12.9032 4 yes
GO:0098930 axonal transport 12.9032 6 yes
GO:0099518 vesicle cytoskeletal trafficking 12.9032 5 yes
GO:0008090 retrograde axonal transport 9.6774 7 yes
GO:0032252 secretory granule localization 9.6774 4 yes
GO:0032253 dense core granule localization 9.6774 5 yes
GO:0060998 regulation of dendritic spine development 9.6774 4 yes
GO:0099519 dense core granule cytoskeletal transport 9.6774 6 yes
GO:1901950 dense core granule transport 9.6774 5 yes
GO:1990048 anterograde neuronal dense core vesicle transport 9.6774 6 yes
GO:1990049 retrograde neuronal dense core vesicle transport 9.6774 6 yes
GO:0061001 regulation of dendritic spine morphogenesis 6.4516 5 yes
GO:0099175 regulation of postsynapse organization 6.4516 6 yes

Disease

Term Name % Distance from top the of the tree Annotated in KIF1A_HUMAN
DOID:0060038 specific developmental disorder 6.4516 3 yes
DOID:0060307 autosomal dominant intellectual developmental disorder 6.4516 5 yes
DOID:0070039 NESCAV syndrome 6.4516 6 yes
DOID:0110781 hereditary spastic paraplegia 30 6.4516 6 yes
DOID:1059 intellectual disability 6.4516 4 yes
DOID:2476 hereditary spastic paraplegia 6.4516 5 yes
DOID:331 central nervous system disease 6.4516 3 yes
DOID:607 paraplegia 6.4516 4 yes
DOID:0050700 cardiomyopathy 6.4516 4 no
DOID:0060036 intrinsic cardiomyopathy 6.4516 5 no
DOID:114 heart disease 6.4516 3 no
DOID:2843 long QT syndrome 6.4516 6 no
Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
RETR1_HUMAN [view interactions] Low throughput no no
KIF1A_HUMAN [view entry] [view interactions] Low throughput yes no
DLG4_HUMAN [view entry] [view interactions] High throughput yes yes
APLP2_HUMAN [view interactions] High throughput no yes
COX15_HUMAN [view interactions] High throughput no yes
KS6A2_HUMAN [view interactions] High throughput no yes
BCAR1_HUMAN [view interactions] High throughput no yes
HSC20_HUMAN [view interactions] High throughput no yes
HDAC4_HUMAN [view interactions] High throughput no yes
TRIP6_HUMAN [view interactions] High throughput no yes
TRI27_HUMAN [view interactions] High throughput no yes
TRAF1_HUMAN [view interactions] High throughput no no
TNS2_HUMAN [view interactions] High throughput no no
SPY2_HUMAN [view interactions] High throughput no yes
RNF31_HUMAN [view interactions] High throughput no yes
RFX6_HUMAN [view interactions] High throughput no no
PSA3_HUMAN [view interactions] High throughput no no
PLS1_HUMAN [view interactions] High throughput no no
NT2NA_HUMAN [view interactions] High throughput no no
MKRN3_HUMAN [view interactions] High throughput no yes
MDFI_HUMAN [view interactions] High throughput no no
FXR2_HUMAN [view entry] [view interactions] High throughput yes yes
CATD_HUMAN [view interactions] High throughput no yes
GRN_HUMAN [view interactions] High throughput no no
TTHY_HUMAN [view interactions] High throughput no no
WFS1_HUMAN [view entry] [view interactions] High throughput yes yes
SPRE1_HUMAN [view interactions] High throughput no yes
ESR1_HUMAN [view interactions] High throughput no no
DISC1_HUMAN [view entry] [view interactions] High throughput yes no
TNIK_HUMAN [view entry] [view interactions] High throughput yes yes
SP1_HUMAN [view interactions] High throughput no yes
CE152_HUMAN [view interactions] High throughput no yes
RAB9A_HUMAN [view interactions] High throughput no yes
MED1_HUMAN [view interactions] High throughput no no
PPARG_HUMAN [view interactions] High throughput no yes
RXRA_HUMAN [view interactions] High throughput no yes
ANDR_HUMAN [view interactions] High throughput no no
RIMB1_HUMAN [view interactions] High throughput no yes
ATL4_HUMAN [view interactions] High throughput no yes
TRIM1_HUMAN [view interactions] High throughput no no
MTUS2_HUMAN [view interactions] High throughput no yes
RBPMS_HUMAN [view interactions] High throughput no no
RGS20_HUMAN [view interactions] High throughput no no
SIR7_HUMAN [view interactions] High throughput no yes
EGFR_HUMAN [view interactions] High throughput no no
PRS6A_HUMAN [view entry] [view interactions] High throughput yes yes
RN166_HUMAN [view interactions] High throughput no no
NTRK1_HUMAN [view interactions] High throughput no yes
KIF1B_HUMAN [view interactions] High throughput no yes
CETN1_HUMAN [view interactions] High throughput no no
KBP_HUMAN [view interactions] High throughput no yes
TAFA3_HUMAN [view interactions] High throughput no no
DQX1_HUMAN [view interactions] High throughput no no
LYPD4_HUMAN [view interactions] High throughput no no
AASD1_HUMAN [view interactions] High throughput no yes
GALD1_HUMAN [view interactions] High throughput no yes
TRI35_HUMAN [view interactions] High throughput no yes
DOCK5_HUMAN [view entry] [view interactions] High throughput yes no
HNRPL_HUMAN [view interactions] High throughput no yes
RN123_HUMAN [view interactions] High throughput no yes
MGDP1_HUMAN [view interactions] High throughput no yes
PTPC1_HUMAN [view interactions] High throughput no yes
PTN3_HUMAN [view interactions] High throughput no yes
PLK1_HUMAN [view interactions] High throughput no yes
STAU1_HUMAN [view entry] [view interactions] High throughput yes yes
LMBRL_HUMAN [view interactions] High throughput no no
PKHA4_HUMAN [view interactions] High throughput no yes
KI20A_HUMAN [view interactions] High throughput no yes
TRI67_HUMAN [view interactions] High throughput no no
TRIM9_HUMAN [view entry] [view interactions] High throughput yes no
AP4AT_HUMAN [view interactions] High throughput no no
PKHM3_HUMAN [view interactions] High throughput no yes
FGF11_HUMAN [view interactions] High throughput no no
TEBP_HUMAN [view interactions] High throughput no yes
SPSB4_HUMAN [view interactions] High throughput no no
IMP3_HUMAN [view interactions] High throughput no no
DUS16_HUMAN [view interactions] High throughput no yes
RILP_HUMAN [view interactions] High throughput no no
FRIL_HUMAN [view interactions] High throughput no yes
PRPS2_HUMAN [view interactions] High throughput no no
CALM2_HUMAN [view entry] [view interactions] High throughput yes yes
CALM3_HUMAN [view entry] [view interactions] High throughput yes yes
CALM1_HUMAN [view entry] [view interactions] High throughput yes yes
HECD1_HUMAN [view interactions] High throughput no yes
KIF1C_HUMAN [view interactions] High throughput no yes
FBSP1_HUMAN [view entry] [view interactions] High throughput yes no
MARE1_HUMAN [view entry] [view interactions] High throughput yes yes
KINH_HUMAN [view entry] [view interactions] High throughput yes no
JIP3_HUMAN [view entry] [view interactions] High throughput yes yes
ANFY1_HUMAN [view entry] [view interactions] High throughput yes yes
LAMP2_HUMAN [view interactions] High throughput no yes
LAMP3_HUMAN [view interactions] High throughput no no
LTOR1_HUMAN [view entry] [view interactions] High throughput yes yes
IFM1_HUMAN [view interactions] High throughput no no
RAB7A_HUMAN [view entry] [view interactions] High throughput yes yes
ZDHC5_HUMAN [view entry] [view interactions] High throughput yes yes
LIPA3_HUMAN [view entry] [view interactions] Computational yes yes
TBA1A_HUMAN [view entry] [view interactions] Computational yes yes
MADD_HUMAN [view entry] [view interactions] Computational yes yes
LIPA1_HUMAN [view entry] [view interactions] Computational yes yes
KLC1_HUMAN [view entry] [view interactions] Computational yes no
TBB2B_HUMAN [view entry] [view interactions] Computational yes yes
KIFA3_HUMAN [view entry] [view interactions] Computational yes yes
RAB3A_HUMAN [view entry] [view interactions] Computational yes yes
KLC2_HUMAN [view entry] [view interactions] Computational yes yes