Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
3831
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Kinesin light chain 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
KLC1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
KLC, KNS2, KNS2A |
Chromosome
Chromosome number
|
14 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
14q32.33 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various c |
UniProt ID |
Q07866
|
Protein name |
Kinesin light chain 1 (KLC 1) |
Protein function |
Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport (PubMed:21385839). The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By simil |
PDB |
3NF1
,
5OJ8
,
7AI4
,
7AIE
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF13424
|
TPR_12 |
211 → 287 |
|
Repeat |
PF00515
|
TPR_1 |
297 → 329 |
Tetratricopeptide repeat |
Repeat |
PF13374
|
TPR_10 |
463 → 502 |
|
Repeat |
|
Tissue specificity |
TISSUE SPECIFICITY: Found in a variety of tissues. Mostly abundant in brain and spine. {ECO:0000269|PubMed:14970196}. |
Sequence |
|
Sequence length |
573 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
31268507, 30285260, 31374203, 25056061, 28540026, 26198764 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Cytochrome-c oxidase deficiency |
Cytochrome-c Oxidase Deficiency |
|
|
ClinVar |
Mental depression |
Major Depressive Disorder |
|
29662059 |
ClinVar |
Gout |
Gout |
|
|
GWAS |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
Alzheimer disease |
Alzheimer disease |
|
|
GWAS |
Insomnia |
Insomnia |
|
|
GWAS |
|
|