ID  Q12756;
PN  Kinesin-like protein KIF1A;
GN  KIF1A;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:21376300}. Cell projection, neuron projection {ECO:0000269|PubMed:25265257, ECO:0000269|PubMed:32652677, ECO:0000269|PubMed:33880452}. Cell projection, axon {ECO:0000250|UniProtKB:P33173}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:P33173}. Synapse {ECO:0000250|UniProtKB:P33173}. Cytoplasmic vesicle, secretory vesicle, neuronal dense core vesicle membrane {ECO:0000250|UniProtKB:F1M4A4}; Peripheral membrane protein {ECO:0000250|UniProtKB:F1M4A4}; Cytoplasmic side {ECO:0000250|UniProtKB:F1M4A4}. Note=Within neuronal cells concentrated in the axon, with smaller amounts in the perinuclear and synaptic regions (By similarity). Accumulates at the distal tip of growing neurites. {ECO:0000250|UniProtKB:P33173, ECO:0000269|PubMed:25265257, ECO:0000269|PubMed:33880452}.
DR  UNIPROT: Q12756;
DR  UNIPROT: B0I1S5;
DR  UNIPROT: F5H045;
DR  UNIPROT: O95068;
DR  UNIPROT: Q13355;
DR  UNIPROT: Q14752;
DR  UNIPROT: Q2NKJ6;
DR  UNIPROT: Q4LE42;
DR  UNIPROT: Q53T78;
DR  UNIPROT: Q59GH1;
DR  UNIPROT: Q63Z40;
DR  UNIPROT: Q6P1R9;
DR  UNIPROT: Q7KZ57;
DR  PDB: 4EGX;
DR  PDB: 4EJQ;
DR  PDB: 4UXO;
DR  PDB: 4UXP;
DR  PDB: 4UXR;
DR  PDB: 4UXS;
DR  Pfam: PF12473;
DR  Pfam: PF00498;
DR  Pfam: PF12423;
DR  Pfam: PF00225;
DR  Pfam: PF16183;
DR  Pfam: PF00169;
DR  PROSITE: PS50006;
DR  PROSITE: PS00411;
DR  PROSITE: PS50067;
DR  PROSITE: PS50003;
DR  OMIM: 601255;
DR  OMIM: 610357;
DR  OMIM: 614213;
DR  OMIM: 614255;
DR  DisGeNET: 547;
DE  Function: Motor for anterograde axonal transport of synaptic vesicle precursors (PubMed:33880452). 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. {ECO:0000250|UniProtKB:F1M4A4, ECO:0000269|PubMed:33880452}.
DE  Disease: Spastic paraplegia 30 (SPG30) [MIM:610357]: 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. Some SPG30 patients have a pure form of the disorder, limited to spastic paraplegia, whereas others may have a complicated form that includes additional features such as cognitive dysfunction, learning disabilities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy. SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:21487076, ECO:0000269|PubMed:22258533, ECO:0000269|PubMed:25265257, ECO:0000269|PubMed:25585697, ECO:0000269|PubMed:26125038, ECO:0000269|PubMed:26410750, ECO:0000269|PubMed:28832565, ECO:0000269|PubMed:29159194, ECO:0000269|PubMed:29934652, ECO:0000269|PubMed:31488895, ECO:0000269|PubMed:31796088, ECO:0000269|PubMed:32096284, ECO:0000269|PubMed:32652677, ECO:0000269|PubMed:33880452}. Note=The disease is caused by variants affecting the gene represented in this entry. Neuropathy, hereditary sensory, 2C (HSN2C) [MIM:614213]: 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. {ECO:0000269|PubMed:21820098}. Note=The disease is caused by variants affecting the gene represented in this entry. NESCAV syndrome (NESCAVS) [MIM:614255]: An autosomal dominant neurodegenerative disorder with variable manifestations. Main features are delayed psychomotor development, progressive spasticity, intellectual disability, speech delay, and learning disabilities. Some patients never achieve ambulation. Additional variable features are cortical visual impairment, often associated with optic atrophy, axonal peripheral neuropathy, seizures, dysautonomia, ataxia, and dystonia. Brain imaging often shows progressive cerebellar atrophy and thin corpus callosum. Disease onset is in infancy or early childhood. {ECO:0000269|PubMed:21376300, ECO:0000269|PubMed:25253658, ECO:0000269|PubMed:25265257, ECO:0000269|PubMed:26125038, ECO:0000269|PubMed:26354034, ECO:0000269|PubMed:26486474, ECO:0000269|PubMed:27034427, ECO:0000269|PubMed:31805580, ECO:0000269|PubMed:32096284, ECO:0000269|PubMed:32652677, ECO:0000269|PubMed:33880452}. Note=The disease is caused by variants affecting the gene represented in this entry. Note=KIF1A dysfunction is associated with a large spectrum of neurologic disorders, including HSN2C, SPG30 and NESCAVS. It has been proposed to collectively name them KIF1A-Associated Neurological Disorder (KAND). Some variants reported here are based on this broad classification. {ECO:0000269|PubMed:28834584, ECO:0000269|PubMed:32652677, ECO:0000269|PubMed:33880452}.
DE  Reference Proteome: Yes;
DE  Interaction: O15162; IntAct: EBI-21249906; Score: 0.37
DE  Interaction: Q12756; IntAct: EBI-7151012; Score: 0.74
DE  Interaction: P08047; IntAct: EBI-2679824; Score: 0.00
DE  Interaction: P31016; IntAct: EBI-7969315; Score: 0.44
DE  Interaction: Q15654; IntAct: EBI-21249990; Score: 0.37
DE  Interaction: P14373; IntAct: EBI-21249982; Score: 0.37
DE  Interaction: Q13077; IntAct: EBI-21249974; Score: 0.37
DE  Interaction: Q63HR2; IntAct: EBI-21249964; Score: 0.37
DE  Interaction: O43597; IntAct: EBI-21249956; Score: 0.37
DE  Interaction: Q96EP0; IntAct: EBI-21249946; Score: 0.37
DE  Interaction: O76081; IntAct: EBI-21249938; Score: 0.37
DE  Interaction: Q8HWS3; IntAct: EBI-21249930; Score: 0.37
DE  Interaction: Q93062; IntAct: EBI-21249922; Score: 0.37
DE  Interaction: P25788; IntAct: EBI-21249914; Score: 0.37
DE  Interaction: Q7Z3S9; IntAct: EBI-21249898; Score: 0.37
DE  Interaction: Q5JR59; IntAct: EBI-21249890; Score: 0.37
DE  Interaction: Q13064; IntAct: EBI-21249882; Score: 0.37
DE  Interaction: Q9UJV3; IntAct: EBI-21249872; Score: 0.37
DE  Interaction: Q99750; IntAct: EBI-21249864; Score: 0.37
DE  Interaction: P51116; IntAct: EBI-21249856; Score: 0.37
DE  Interaction: Q6UY14; IntAct: EBI-21249846; Score: 0.37
DE  Interaction: O94986; IntAct: EBI-11381405; Score: 0.27
DE  Interaction: P56945; IntAct: EBI-15099463; Score: 0.35
DE  Interaction: Q8IWL3; IntAct: EBI-13943458; Score: 0.35
DE  Interaction: Q7Z5A8; IntAct: EBI-21529283; Score: 0.35
DE  Interaction: Q12798; IntAct: EBI-21576600; Score: 0.35
DE  Interaction: Q9BTE6; IntAct: EBI-21593012; Score: 0.35
DE  Interaction: Q8TE96; IntAct: EBI-21601615; Score: 0.35
DE  Interaction: P17980; IntAct: EBI-21604348; Score: 0.35
DE  Interaction: Q9UPQ4; IntAct: EBI-21609883; Score: 0.35
DE  Interaction: Q8NB37; IntAct: EBI-21611026; Score: 0.35
DE  Interaction: Q96EK5; IntAct: EBI-21618538; Score: 0.35
DE  Interaction: Q6UWN0; IntAct: EBI-21625737; Score: 0.35
DE  Interaction: Q96A37; IntAct: EBI-21627270; Score: 0.35
DE  Interaction: Q9H7D0; IntAct: EBI-21689344; Score: 0.35
DE  Interaction: O60333; IntAct: EBI-25914332; Score: 0.56
DE  Interaction: Q9H6L5; IntAct: EBI-16159487; Score: 0.37
DE  Interaction: Q96RS6; IntAct: EBI-20723859; Score: 0.35
DE  Interaction: P51151; IntAct: EBI-16798325; Score: 0.27
DE  Interaction: Q7KZN9; IntAct: EBI-20304305; Score: 0.35
DE  Interaction: P03372; IntAct: EBI-21301141; Score: 0.35
DE  Interaction: Q9NRI5; IntAct: EBI-21382678; Score: 0.00
DE  Interaction: Q9UKE5; IntAct: EBI-21382663; Score: 0.00
DE  Interaction: P07339; IntAct: EBI-25839962; Score: 0.56
DE  Interaction: P28799; IntAct: EBI-25859987; Score: 0.56
DE  Interaction: P02766; IntAct: EBI-25893971; Score: 0.56
DE  Interaction: O76024; IntAct: EBI-25896658; Score: 0.56
DE  Interaction: Q7Z699; IntAct: EBI-25930203; Score: 0.56
DE  Interaction: Q15349; IntAct: EBI-28941290; Score: 0.35
GO  GO:0070161;
GO  GO:0030424;
GO  GO:1904115;
GO  GO:0030425;
GO  GO:0098674;
GO  GO:0005871;
GO  GO:0005874;
GO  GO:0098992;
GO  GO:0048471;
GO  GO:0045202;
GO  GO:0005524;
GO  GO:0016887;
GO  GO:0003774;
GO  GO:0042802;
GO  GO:0008017;
GO  GO:0003777;
GO  GO:0008574;
GO  GO:0008089;
GO  GO:1990048;
GO  GO:0030705;
GO  GO:0099519;
GO  GO:0007018;
GO  GO:0060998;
GO  GO:0061001;
GO  GO:1990049;
GO  GO:0016192;
TP  Membrane Topology: Peripheral; Source: UniProt - By Similarity {ECO:0000250|UniProtKB:F1M4A4};
SQ  MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEE
SQ  MLQHAFEGYNVCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNP
SQ  KNKGNLRVREHPLLGPYVEDLSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEK
SQ  VSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLG
SQ  GNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVINEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDMTNALVG
SQ  MSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETEKIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDG
SQ  GTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVLSGHFIKEEHCVFRSDSRGGSEAVVTLEPC
SQ  EGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAFAQRELLEKQGIDMKQEMEQ
SQ  RLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAFRKWKWYQFT
SQ  SLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYW
SQ  TLEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGRAFVYLSNLLYPVPLVHRVAIVSEKGEVK
SQ  GFLRVAVQAISADEEAPDYGSGVRQSGTAKISFDDQHFEKFQSESCPVVGMSRSGTSQEELRIVEGQGQGADVGPSADEV
SQ  NNNTCSAVPPEGLLLDSSEKAALDGPLDAALDHLRLGNTFTFRVTVLQASSISAEYADIFCQFNFIHRHDEAFSTEPLKN
SQ  TGRGPPLGFYHVQNIAVEVTKSFIEYIKSQPIVFEVFGHYQQHPFPPLCKDVLSPLRPSRRHFPRVMPLSKPVPATKLST
SQ  LTRPCPGPCHCKYDLLVYFEICELEANGDYIPAVVDHRGGMPCMGTFLLHQGIQRRITVTLLHETGSHIRWKEVRELVVG
SQ  RIRNTPETDESLIDPNILSLNILSSGYIHPAQDDRTFYQFEAAWDSSMHNSLLLNRVTPYREKIYMTLSAYIEMENCTQP
SQ  AVVTKDFCMVFYSRDAKLPASRSIRNLFGSGSLRASESNRVTGVYELSLCHVADAGSPGMQRRRRRVLDTSVAYVRGEEN
SQ  LAGWRPRSDSLILDHQWELEKLSLLQEVEKTRHYLLLREKLETAQRPVPEALSPAFSEDSESHGSSSASSPLSAEGRPSP
SQ  LEAPNERQRELAVKCLRLLTHTFNREYTHSHVCVSASESKLSEMSVTLLRDPSMSPLGVATLTPSSTCPSLVEGRYGATD
SQ  LRTPQPCSRPASPEPELLPEADSKKLPSPARATETDKEPQRLLVPDIQEIRVSPIVSKKGYLHFLEPHTSGWARRFVVVR
SQ  RPYAYMYNSDKDTVERFVLNLATAQVEYSEDQQAMLKTPNTFAVCTEHRGILLQAASDKDMHDWLYAFNPLLAGTIRSKL
SQ  SRRRSAQMRV
//