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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
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
Attention deficit hyperactivity disorder Likely pathogenic rs1114167297 RCV000492046
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brain atrophy Likely pathogenic rs1114167297 RCV000492046
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatigable weakness of swallowing muscles Pathogenic rs2491871660 RCV002463584
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Feeding difficulties Pathogenic rs2491871660 RCV002463584
★★★★☆
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
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED Disgenet
★★☆☆☆
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
Adenocarcinoma Adenocarcinoma BEFREE 11899199, 22327623, 22797671, 23378251, 23932363, 30015159
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19383809, 21656749, 22194472, 22327622, 22327624, 22797671, 23052255, 23342255, 23927882, 23932363, 26268359, 27496134, 28082048, 28877471, 30015159
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 29739754
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brain atrophy Brain atrophy CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brain Injuries Traumatic Brain injuries Pubtator 31038188 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31204277
★☆☆☆☆
Found in Text Mining only
Bronchioloalveolar Adenocarcinoma Lung adenocarcinoma BEFREE 22296236
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 22797671
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 21613408, 22194472, 23052255, 25047660, 31289444, 31739795
★☆☆☆☆
Found in Text Mining only