• Gene id: 547

Gene Summary

• Gene Symbol: KIF1A   Gene   UCSC   Ensembl
• Aliases: ATSV, C2orf20, HSN2C, MRD9, NESCAVS, SPG30, UNC104
• Gene name: kinesin family member 1A
• Alternate names: kinesin-like protein KIF1A, axonal transporter of synaptic vesicles, kinesin, heavy chain, member 1A, homolog of mouse, microtubule-based motor KIF1A, unc-104- and KIF1A-related protein,
• Gene location: 2q37.3 (240820307: 240713763)     Exons: 50     NC_000002.12
• Gene summary(Entrez): 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 h
• OMIM: 609505

SNPs

rs397515414

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.71137272T>A
NC_000016.9   g.71171175T>A
NG_033116.2   g.98451A>T
NM_017558.5   c.922A>T
NM_017558.4   c.922A>T
NM_001270974.2   c.922A>T
NM_001270974.1   c.922A>T
NM_001198542.1   c.1003A>T
NM_001198543.1   c.973A>T
XM_006721206.3   c.973A>T
XM_01152314  

rs397515413

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.70988133C>A
NC_000016.9   g.71022036C>A
NG_033116.2   g.247590G>T
NM_001270974.2   c.3985G>T
NM_001270974.1   c.3985G>T
XM_006721206.3   c.4036G>T
XM_011523146.2   c.4168G>T
XM_017023346.2   c.4105G>T
XM_011523151.2   c.4066G>T
XM_011523148.1   c.4087G>

rs2267437

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.41620695C>A
NC_000022.11   g.41620695C>G
NC_000022.10   g.42016699C>A
NC_000022.10   g.42016699C>G|SEQ=[C/A/G]|GENE=XRCC6
DESI1   27351

rs4938723

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

Protein Summary

• Protein general information: Q12756  
  • Name: Kinesin like protein KIF1A (Axonal transporter of synaptic vesicles) (Microtubule based motor KIF1A) (Unc 104 and KIF1A related protein) (hUnc 104)
  • Length: 1690  
  • Mass: 191064
  • Tissue specificity: Expressed in neurons. {ECO
• Sequence:

  MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYR
  DIGEEMLQHAFEGYNVCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIY
  CERVRDLLNPKNKGNLRVREHPLLGPYVEDLSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIF
  TQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGKVISALAEMDSGPNKNKKKKK
  TDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVINEDPNNKLIRELKDE
  VTRLRDLLYAQGLGDITDMTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETEKIIAELNET
  WEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGER
  RQDIVLSGHFIKEEHCVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQA
  RQERERTPCAETPAEPVDWAFAQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQ
  KQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAFRKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQ
  FVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQDQKNGATHYWTLEKLRQRLDLMREMYDRAAEVPSS
  VIEDCDNVVTGGDPFYDRFPWFRLVGRAFVYLSNLLYPVPLVHRVAIVSEKGEVKGFLRVAVQAISADEEAPDYG
  SGVRQSGTAKISFDDQHFEKFQSESCPVVGMSRSGTSQEELRIVEGQGQGADVGPSADEVNNNTCSAVPPEGLLL
  DSSEKAALDGPLDAALDHLRLGNTFTFRVTVLQASSISAEYADIFCQFNFIHRHDEAFSTEPLKNTGRGPPLGFY
  HVQNIAVEVTKSFIEYIKSQPIVFEVFGHYQQHPFPPLCKDVLSPLRPSRRHFPRVMPLSKPVPATKLSTLTRPC
  PGPCHCKYDLLVYFEICELEANGDYIPAVVDHRGGMPCMGTFLLHQGIQRRITVTLLHETGSHIRWKEVRELVVG
  RIRNTPETDESLIDPNILSLNILSSGYIHPAQDDRTFYQFEAAWDSSMHNSLLLNRVTPYREKIYMTLSAYIEME
  NCTQPAVVTKDFCMVFYSRDAKLPASRSIRNLFGSGSLRASESNRVTGVYELSLCHVADAGSPGMQRRRRRVLDT
  SVAYVRGEENLAGWRPRSDSLILDHQWELEKLSLLQEVEKTRHYLLLREKLETAQRPVPEALSPAFSEDSESHGS
  SSASSPLSAEGRPSPLEAPNERQRELAVKCLRLLTHTFNREYTHSHVCVSASESKLSEMSVTLLRDPSMSPLGVA
  TLTPSSTCPSLVEGRYGATDLRTPQPCSRPASPEPELLPEADSKKLPSPARATETDKEPQRLLVPDIQEIRVSPI
  VSKKGYLHFLEPHTSGWARRFVVVRRPYAYMYNSDKDTVERFVLNLATAQVEYSEDQQAMLKTPNTFAVCTEHRG
  ILLQAASDKDMHDWLYAFNPLLAGTIRSKLSRRRSAQMRV

• Structural information:
  • Protein Domains: (5..35-)
    (/note="Kinesin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00283-)
    (516..57-)
    (/note="FHA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00086-)
    (1575..167-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR000253  IPR022164  IPR027640  IPR022140  IPR032405   IPR019821  IPR001752  IPR036961  IPR027417  IPR011993  IPR001849  IPR008984  
  • Prosite: PS50006 PS00411 PS50067 PS50003
  • CDD: cd00060
  • PDB: 4EGX 4EJQ 4UXO 4UXP 4UXR 4UXS
  • PDBsum: 4EGX 4EJQ 4UXO 4UXP 4UXR 4UXS
  • DIP: 42405
  • STRING: ENSP00000438388
• Other Databases: GeneCards:  KIF1A  Malacards:  KIF1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990048	anterograde neuronal dense core vesicle transport	ISS	biological process
GO:1990049	retrograde neuronal dense core vesicle transport	ISS	biological process
GO:0016887	ATPase activity	IBA	molecular function
GO:0008574	ATP-dependent microtubule motor activity, plus-end-directed	IBA	molecular function
GO:0005874	microtubule	IBA	cellular component
GO:0043005	neuron projection	IBA	cellular component
GO:0030705	cytoskeleton-dependent intracellular transport	IBA	biological process
GO:0030425	dendrite	IBA	cellular component
GO:0030424	axon	IBA	cellular component
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0008017	microtubule binding	IBA	molecular function
GO:0007018	microtubule-based movement	IBA	biological process
GO:0005871	kinesin complex	IBA	cellular component
GO:0003777	microtubule motor activity	IBA	molecular function
GO:0098992	neuronal dense core vesicle	ISS	cellular component
GO:0060998	regulation of dendritic spine development	ISS	biological process
GO:0098674	extrinsic component of neuronal dense core vesicle membrane	ISS	cellular component
GO:0099519	dense core granule cytoskeletal transport	ISS	biological process
GO:0061001	regulation of dendritic spine morphogenesis	ISS	biological process
GO:0003777	microtubule motor activity	IEA	molecular function
GO:0007018	microtubule-based movement	IEA	biological process
GO:0008017	microtubule binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005874	microtubule	IEA	cellular component
GO:0003774	motor activity	TAS	molecular function
GO:0008089	anterograde axonal transport	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005874	microtubule	IEA	cellular component
GO:0008089	anterograde axonal transport	IEA	biological process
GO:0022027	interkinetic nuclear migration	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0061001	regulation of dendritic spine morphogenesis	IEA	biological process
GO:0098674	extrinsic component of neuronal dense core vesicle membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0099519	dense core granule cytoskeletal transport	IEA	biological process
GO:1990048	anterograde neuronal dense core vesicle transport	IEA	biological process
GO:1990049	retrograde neuronal dense core vesicle transport	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0008017	microtubule binding	IEA	molecular function
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0060998	regulation of dendritic spine development	IEA	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0098840	protein transport along microtubule	IEA	biological process
GO:0098992	neuronal dense core vesicle	IEA	cellular component
GO:0099012	neuronal dense core vesicle membrane	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Autosomal dominant mental retardation	KEGG:H00773
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Hereditary spastic paraplegia	KEGG:H00266
Autosomal dominant mental retardation	KEGG:H00773
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Hereditary sensory neuropathy	PMID:21820098
Hereditary sensory neuropathy	PMID:25265257
Hereditary spastic paraplegia 30	PMID:21487076
Hereditary spastic paraplegia	PMID:28362824
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq