• Gene id: 23095

Gene Summary

• Gene Symbol: KIF1B   Gene   UCSC   Ensembl
• Aliases: CMT2, CMT2A, CMT2A1, HMSNII, KLP, NBLST1
• Gene name: kinesin family member 1B
• Alternate names: kinesin-like protein KIF1B, kinesin superfamily protein KIF1B,
• Gene location: 1p36.22 (10210569: 10381602)     Exons: 52     NC_000001.11
• Gene summary(Entrez): This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008]
• OMIM: 605995

Protein Summary

• Protein general information: O60333  
  • Name: Kinesin like protein KIF1B (Klp)
  • Length: 1816  
  • Mass: 204476
  • Tissue specificity: Isoform 3 is abundant in the skeletal muscle. It is also expressed in fetal brain, lung and kidney, and adult heart, placenta, testis, ovary and small intestine. Isoform 2 is abundant in the brain and also expressed in fetal heart, lun
• Sequence:

  MSGASVKVAVRVRPFNSRETSKESKCIIQMQGNSTSIINPKNPKEAPKSFSFDYSYWSHTSPEDPCFASQNRVYN
  DIGKEMLLHAFEGYNVCIFAYGQTGAGKSYTMMGKQEESQAGIIPQLCEELFEKINDNCNEEMSYSVEVSYMEIY
  CERVRDLLNPKNKGNLRVREHPLLGPYVEDLSKLAVTSYTDIADLMDAGNKARTVAATNMNETSSRSHAVFTIVF
  TQKKHDNETNLSTEKVSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGKVISALAEVDNCTSKSKKKKK
  TDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIKCNAVINEDPNAKLVRELKEE
  VTRLKDLLRAQGLGDIIDIDPLIDDYSGSGSKYLKDFQNNKHRYLLASENQRPGHFSTASMGSLTSSPSSCSLSS
  QVGLTSVTSIQERIMSTPGGEEAIERLKESEKIIAELNETWEEKLRKTEAIRMEREALLAEMGVAIREDGGTLGV
  FSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGQADAERRQDIVLSGAHIKEEHCIFRSERSNSGEVIVTLEPC
  ERSETYVNGKRVSQPVQLRSGNRIIMGKNHVFRFNHPEQARAEREKTPSAETPSEPVDWTFAQRELLEKQGIDMK
  QEMEKRLQEMEILYKKEKEEADLLLEQQRLDYESKLQALQKQVETRSLAAETTEEEEEEEEVPWTQHEFELAQWA
  FRKWKSHQFTSLRDLLWGNAVYLKEANAISVELKKKVQFQFVLLTDTLYSPLPPELLPTEMEKTHEDRPFPRTVV
  AVEVQDLKNGATHYWSLEKLKQRLDLMREMYDRAGEMASSAQDESETTVTGSDPFYDRFHWFKLVGSSPIFHGCV
  NERLADRTPSPTFSTADSDITELADEQQDEMEDFDDEAFVDDAGSDAGTEEGSDLFSDGHDPFYDRSPWFILVGR
  AFVYLSNLLYPVPLIHRVAIVSEKGEVRGFLRVAVQAIAADEEAPDYGSGIRQSGTAKISFDNEYFNQSDFSSVA
  MTRSGLSLEELRIVEGQGQSSEVITPPEEISRINDLDLKSSTLLDGKMVMEGFSEEIGNHLKLGSAFTFRVTVLQ
  ASGILPEYADIFCQFNFLHRHDEAFSTEPLKNNGRGSPLAFYHVQNIAVEITESFVDYIKTKPIVFEVFGHYQQH
  PLHLQGQELNSPPQPCRRFFPPPMPLSKPVPATKLNTMSKTSLGQSMSKYDLLVWFEISELEPTGEYIPAVVDHT
  AGLPCQGTFLLHQGIQRRITVTIIHEKGSELHWKDVRELVVGRIRNKPEVDEAAVDAILSLNIISAKYLKSSHNS
  SRTFYRFEAVWDSSLHNSLLLNRVTPYGEKIYMTLSAYLELDHCIQPAVITKDVCMVFYSRDAKISPPRSLRSLF
  GSGYSKSPDSNRVTGIYELSLCKMSDTGSPGMQRRRRKILDTSVAYVRGEENLAGWRPRGDSLILEHQWELEKLE
  LLHEVEKTRHFLLLRERLGDSIPKSLSDSLSPSLSSGTLSTSTSISSQISTTTFESAITPSESSGYDSGDIESLV
  DREKELATKCLQLLTHTFNREFSQVHGSVSDCKLSDISPIGRDPSESSFSSATLTPSSTCPSLVDSRSNSLDQKT
  PEANSRASSPCPEFEQFQIVPAVETPYLARAGKNEFLNLVPDIEEIRPSSVVSKKGYLHFKEPLYSNWAKHFVVV
  RRPYVFIYNSDKDPVERGIINLSTAQVEYSEDQQAMVKTPNTFAVCTKHRGVLLQALNDKDMNDWLYAFNPLLAG
  TIRSKLSRRCPSQSKY

• Structural information:
  • Protein Domains: (5..35-)
    (/note="Kinesin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00283-)
    (556..61-)
    (/note="FHA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00086-)
    (1702..179-)
    (/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: 2EH0
  • PDBsum: 2EH0
  • DIP: 33015
  • STRING: ENSP00000263934
• Other Databases: GeneCards:  KIF1B  Malacards:  KIF1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043005	neuron projection	IBA	cellular component
GO:0031410	cytoplasmic vesicle	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: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	ISS	cellular component
GO:0031410	cytoplasmic vesicle	ISS	cellular component
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:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990778	protein localization to cell periphery	IEA	biological process
GO:1990049	retrograde neuronal dense core vesicle transport	IEA	biological process
GO:1990048	anterograde neuronal dense core vesicle transport	IEA	biological process
GO:0097110	scaffold protein binding	IEA	molecular function
GO:0019900	kinase binding	IEA	molecular function
GO:0016887	ATPase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0010970	transport along microtubule	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0047497	mitochondrion transport along microtubule	IEA	biological process
GO:0016887	ATPase activity	IEA	molecular function
GO:0008089	anterograde axonal transport	IEA	biological process
GO:0007274	neuromuscular synaptic transmission	IEA	biological process
GO:0005875	microtubule associated complex	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:1990939	ATP-dependent microtubule motor activity	IEA	molecular function
GO:1990090	cellular response to nerve growth factor stimulus	IEA	biological process
GO:1904647	response to rotenone	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0032418	lysosome localization	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0030705	cytoskeleton-dependent intracellular transport	IEA	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0007270	neuron-neuron synaptic transmission	IEA	biological process
GO:0007018	microtubule-based movement	IEA	biological process
GO:0003777	microtubule motor activity	IEA	molecular function
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	ISS	cellular component
GO:0007270	neuron-neuron synaptic transmission	ISS	biological process
GO:0007018	microtubule-based movement	ISS	biological process
GO:0008089	anterograde axonal transport	ISS	biological process
GO:0007274	neuromuscular synaptic transmission	ISS	biological process
GO:0005875	microtubule associated complex	ISS	cellular component
GO:0030705	cytoskeleton-dependent intracellular transport	ISS	biological process
GO:0003777	microtubule motor activity	ISS	molecular function
GO:0019894	kinesin binding	TAS	molecular function
GO:0016887	ATPase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease type 2A1	PMID:11389829
ovary epithelial cancer	PMID:25854172
Multiple sclerosis	PMID:18997785
hepatocellular carcinoma	PMID:26217094
hepatocellular carcinoma	PMID:27122668
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881