Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23095
Gene name Gene Name - the full gene name approved by the HGNC.
Kinesin family member 1B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KIF1B
Synonyms (NCBI Gene) Gene synonyms aliases
CMT2, CMT2A, CMT2A1, HMSNII, KLP, NBLST1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMT2A1, NBLST1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.22
Summary Summary of gene provided in NCBI Entrez Gene.
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]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121908160 A>T Pathogenic Missense variant, coding sequence variant
rs121908161 A>T Risk-factor Missense variant, coding sequence variant
rs121908162 C>T Likely-benign, risk-factor Genic downstream transcript variant, missense variant, coding sequence variant
rs121908163 C>T Likely-pathogenic, likely-benign, risk-factor Genic downstream transcript variant, missense variant, coding sequence variant
rs139572764 T>A Conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016600 hsa-miR-193b-3p Microarray 20304954
MIRT021443 hsa-miR-9-5p Microarray 17612493
MIRT023106 hsa-miR-124-3p Microarray 18668037
MIRT030116 hsa-miR-26b-5p Microarray 19088304
MIRT031988 hsa-miR-16-5p Microarray 21199864
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003777 Function Microtubule motor activity IBA 21873635
GO:0003777 Function Microtubule motor activity ISS
GO:0005515 Function Protein binding IPI 16225668, 20852589, 25416956
GO:0005524 Function ATP binding IEA
GO:0005739 Component Mitochondrion IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605995 16636 ENSG00000054523
Protein
UniProt ID O60333
Protein name Kinesin-like protein KIF1B (Klp) (EC 5.6.1.3)
Protein function Has a plus-end-directed microtubule motor activity and functions as a motor for transport of vesicles and organelles along microtubules. ; [Isoform 2]: Has a plus-end-directed microtubule motor activity an
PDB 2EH0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00225 Kinesin 11 354 Kinesin motor domain Domain
PF16183 Kinesin_assoc 358 555 Kinesin-associated Family
PF00498 FHA 556 627 FHA domain Family
PF12423 KIF1B 845 892 Kinesin protein 1B Family
PF12473 DUF3694 1266 1413 Kinesin protein Family
PF00169 PH 1702 1799 PH domain Domain
Tissue specificity 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
MSGASVKVAVRVRPFNSRETSKESKCIIQMQGNSTSIINPKNPKEAPKSFSFDYSYWSHT
SPEDPCFASQNRVYNDIGKEMLLHAFEGYNVCIFAYGQTGAGKSYTMMGKQEESQAGIIP
QLCEELFEKINDNCNEEMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
LSKLAVTSYTDIADLMDAGNKARTVAATNMNETSSRSHAVFTIVFTQKKHDNETNLSTEK
VSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGKVISALAEVDNCTSKSKKKKK
TDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQI
KCNAVI
NEDPNAKLVRELKEEVTRLKDLLRAQGLGDIIDIDPLIDDYSGSGSKYLKDFQNNKHRYL
LASENQRPGHFSTASMGSLTSSPSSCSLSSQVGLTSVTSIQERIMSTPGGEEAIERLKES
EKIIAELNETWEEKLRKTEAIRMEREALLAEMGVAIREDGGTLGVFSPKKTPHLVNLNED
PLMSECLLYYIKDGI
TRVGQADAERRQDIVLSGAHIKEEHCIFRSERSNSGEVIVTLEPC
ERSETYVNGKRVSQPVQLRSGNRIIMG
KNHVFRFNHPEQARAEREKTPSAETPSEPVDWT
FAQRELLEKQGIDMKQEMEKRLQEMEILYKKEKEEADLLLEQQRLDYESKLQALQKQVET
RSLAAETTEEEEEEEEVPWTQHEFELAQWAFRKWKSHQFTSLRDLLWGNAVYLKEANAIS
VELKKKVQFQFVLLTDTLYSPLPPELLPTEMEKTHEDRPFPRTVVAVEVQDLKNGATHYW
SLEKLKQRLDLMREMYDRAGEMASSAQDESETTVTGSDPFYDRFHWFKLVGSSPIFHGCV
NERLADRTPSPTFSTADSDITELADEQQDEMEDFDDEAFVDDAGSDAGTEEGSDLFSDGH
DPFYDRSPWFILVGRAFVYLSNLLYPVPLIHRVAIVSEKGEVRGFLRVAVQAIAADEEAP
DYGSGIRQSGTAKISFDNEYFNQSDFSSVAMTRSGLSLEELRIVEGQGQSSEVITPPEEI
SRINDLDLKSSTLLDGKMVMEGFSEEIGNHLKLGSAFTFRVTVLQASGILPEYADIFCQF
NFLHRHDEAFSTEPLKNNGRGSPLAFYHVQNIAVEITESFVDYIKTKPIVFEVFGHYQQH
PLHLQGQELNSPPQPCRRFFPPPMPLSKPVPATKLNTMSKTSLGQSMSKYDLLVWFEISE
LEPTGEYIPAVVDHTAGLPCQGTFLLHQGIQRRITVTIIHEKGSELHWKDVRELVVGRIR
NKPEVDEAAVDAILSLNIISAKYLKSSHNSSRTFYRFEAVWDSSLHNSLLLNRVTPYGEK
IYMTLSAYLELDHCIQPAVITKDVCMVFYSRDA
KISPPRSLRSLFGSGYSKSPDSNRVTG
IYELSLCKMSDTGSPGMQRRRRKILDTSVAYVRGEENLAGWRPRGDSLILEHQWELEKLE
LLHEVEKTRHFLLLRERLGDSIPKSLSDSLSPSLSSGTLSTSTSISSQISTTTFESAITP
SESSGYDSGDIESLVDREKELATKCLQLLTHTFNREFSQVHGSVSDCKLSDISPIGRDPS
ESSFSSATLTPSSTCPSLVDSRSNSLDQKTPEANSRASSPCPEFEQFQIVPAVETPYLAR
AGKNEFLNLVPDIEEIRPSSVVSKKGYLHFKEPLYSNWAKHFVVVRRPYVFIYNSDKDPV
ERGIINLSTAQVEYSEDQQAMVKTPNTFAVCTKHRGVLLQALNDKDMNDWLYAFNPLLA
G
TIRSKLSRRCPSQSKY
Sequence length 1816
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Motor proteins   COPI-dependent Golgi-to-ER retrograde traffic
Kinesins
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Aniridia Aniridia rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979
View all (159 more)
Charcot-marie-tooth disease Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth Disease, Axonal, Type 2a1, Autosomal dominant Charcot-Marie-Tooth disease type 2A1 rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295
View all (1137 more)
25802885, 11389829
Glomerulonephritis Glomerulonephritis rs778043831
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure ClinVar
Distal amyotrophy Distal amyotrophy ClinVar
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth disease type 2A1 GenCC
Hereditary Pheochromocytoma-Paraganglioma hereditary pheochromocytoma-paraganglioma GenCC
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 34440432
Carcinoma Hepatocellular Associate 22363396, 22712471, 22807686, 24204805, 24357186, 26217094, 27122668
Carcinoma Ovarian Epithelial Associate 25854172
Carcinoma Renal Cell Associate 26823729
Corneal Dystrophy Crystalline of Schnyder Associate 16163269
Hepatitis B Associate 22363396
Hepatitis B Chronic Associate 22363396
Islet cell tumor syndrome Associate 35046208
Multiple Sclerosis Associate 19935835, 21594895, 23469041
Muscle Weakness Stimulate 38274408