Gene Gene information from NCBI Gene database.
Entrez ID 23095
Gene name Kinesin family member 1B
Gene symbol KIF1B
Synonyms (NCBI Gene)
CMT2CMT2ACMT2A1HMSNIIKLPNBLST1
Chromosome 1
Chromosome location 1p36.22
Summary 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.
7
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.
767
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003774 Function Cytoskeletal motor activity IEA
GO:0003777 Function Microtubule motor activity IEA
GO:0005515 Function Protein binding IPI 12097473, 16225668, 20852589, 25416956, 32814053, 35271311, 36931259
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605995 16636 ENSG00000054523
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
66
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Charcot-Marie-Tooth disease type 2A1 Pathogenic rs121908160 RCV000004921
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenal pheochromocytoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adult-onset proximal spinal muscular atrophy, autosomal dominant Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 18726616, 23061808, 24469107
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma HPO_DG
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 11231025
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 34440432 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyloidosis Amyloidosis BEFREE 30286783
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 20951041
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia HPO_DG
★☆☆☆☆
Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth Disease Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 30560509
★★☆☆☆
Found in Text Mining + Unknown/Other Associations