Gene Gene information from NCBI Gene database.
Entrez ID 3799
Gene name Kinesin family member 5B
Gene symbol KIF5B
Synonyms (NCBI Gene)
HEL-S-61KINHKNSKNS1UKHC
Chromosome 10
Chromosome location 10p11.22
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1114167297 T>C Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1122
miRTarBase ID miRNA Experiments Reference
MIRT021905 hsa-miR-128-3p Sequencing 20371350
MIRT023550 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT024776 hsa-miR-215-5p Microarray 19074876
MIRT025237 hsa-miR-34a-5p Proteomics 21566225
MIRT025237 hsa-miR-34a-5p Proteomics 21566225
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
68
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003777 Function Microtubule motor activity IDA 28426968
GO:0003777 Function Microtubule motor activity IEA
GO:0003777 Function Microtubule motor activity ISS
GO:0003777 Function Microtubule motor activity TAS 8606779
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602809 6324 ENSG00000170759
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P33176
Protein name Kinesin-1 heavy chain (Conventional kinesin heavy chain) (Ubiquitous kinesin heavy chain) (UKHC)
Protein function Microtubule-dependent motor required for normal distribution of mitochondria and lysosomes. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner (By similarity). Regulates centrosome and n
PDB 1BG2 , 1MKJ , 2P4N , 3J8X , 3J8Y , 4HNA , 4LNU , 5LT0 , 5LT1 , 5LT2 , 5LT3 , 5LT4 , 6OJQ , 7RIK , 8IXA , 8IXB , 8IXD , 8IXE , 8IXF , 8IXG , 8RHB , 8RHH , 8RIK , 8RIZ , 9GNQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00225 Kinesin 14 325 Kinesin motor domain Domain
Sequence
MADLAECNIKVMCRFRPLNESEVNRGDKYIAKFQGEDTVVIASKPYAFDRVFQSSTSQEQ
VYNDCAKKIVKDVLEGYNGTIFAYGQTSSGKTHTMEGKLHDPEGMGIIPRIVQDIFNYIY
SMDENLEFHIKVSYFEIYLDKIRDLLDVSKTNLSVHEDKNRVPYVKGCTERFVCSPDEVM
DTIDEGKSNRHVAVTNMNEHSSRSHSIFLINVKQENTQTEQKLSGKLYLVDLAGSEKVSK
TGAEGAVLDEAKNINKSLSALGNVISALAEGSTYVPYRDSKMTRILQDSLGGNCRTTIVI
CCSPSSYNESETKSTLLFGQRAKTI
KNTVCVNVELTAEQWKKKYEKEKEKNKILRNTIQW
LENELNRWRNGETVPIDEQFDKEKANLEAFTVDKDITLTNDKPATAIGVIGNFTDAERRK
CEEEIAKLYKQLDDKDEEINQQSQLVEKLKTQMLDQEELLASTRRDQDNMQAELNRLQAE
NDASKEEVKEVLQALEELAVNYDQKSQEVEDKTKEYELLSDELNQKSATLASIDAELQKL
KEMTNHQKKRAAEMMASLLKDLAEIGIAVGNNDVKQPEGTGMIDEEFTVARLYISKMKSE
VKTMVKRCKQLESTQTESNKKMEENEKELAACQLRISQHEAKIKSLTEYLQNVEQKKRQL
EESVDALSEELVQLRAQEKVHEMEKEHLNKVQTANEVKQAVEQQIQSHRETHQKQISSLR
DEVEAKAKLITDLQDQNQKMMLEQERLRVEHEKLKATDQEKSRKLHELTVMQDRREQARQ
DLKGLEETVAKELQTLHNLRKLFVQDLATRVKKSAEIDSDDTGGSAAQKQKISFLENNLE
QLTKVHKQLVRDNADLRCELPKLEKRLRATAERVKALESALKEAKENASRDRKRYQQEVD
RIKEAVRSKNMARRGHSAQIAKPIRPGQHPAASPTHPSAIRGGGAFVQNSQPVAVRGGGG
KQV
Sequence length 963
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis
Dopaminergic synapse
Motor proteins
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Salmonella infection
Non-small cell lung cancer
  MHC class II antigen presentation
RHO GTPases activate KTN1
COPI-dependent Golgi-to-ER retrograde traffic
Kinesins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
21
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Attention deficit hyperactivity disorder Likely pathogenic rs1114167297 RCV000492046
Brain atrophy Likely pathogenic rs1114167297 RCV000492046
Fatigable weakness of swallowing muscles Pathogenic rs2491871660 RCV002463584
Feeding difficulties Pathogenic rs2491871660 RCV002463584
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
KIF5B-related developmental disorder Conflicting classifications of pathogenicity rs2491866364 RCV005254042
KIF5B-related osteogenesis imperfecta syndrome Uncertain significance rs2491893358 RCV003329220
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 21656749, 22194472, 23052255, 23342255, 25567908, 26268359, 33832282
Brain Injuries Traumatic Associate 31038188
Carcinoma Non Small Cell Lung Associate 22194472, 22296236, 25982012, 33832282, 35220468
Carcinoma Renal Cell Associate 36471407
Hirschsprung Disease Associate 33561610
Histiocytoma Malignant Fibrous Associate 35438749
Histiocytosis Associate 30573850, 34727172
Lung Neoplasms Associate 22194472, 23052255, 23342255, 24759083, 29667179, 29912274, 34710947, 36471407
Melanoma Associate 23884313
Multiple Myeloma Associate 35677537