KEGG   Homo sapiens (human): 83544
Entry
83544             CDS       T01001                                 
Symbol
DNAL1, C14orf168, CILD16, LC1
Name
(RefSeq) dynein axonemal light chain 1
  KO
K10411  dynein axonemal light chain 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04814  Motor proteins
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06461  Huntington disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
  Element
N00976  Retrograde axonal transport
N00977  Mutation-caused aberrant Htt to retrograde axonal transport
N01159  Mutation-caused aberrant TUBA4A to retrograde axonal transport
N01160  Mutation-caused aberrant SOD1 to retrograde axonal transport
Disease
H00564  Primary ciliary dyskinesia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04814 Motor proteins
    83544 (DNAL1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    83544 (DNAL1)
   05016 Huntington disease
    83544 (DNAL1)
   05022 Pathways of neurodegeneration - multiple diseases
    83544 (DNAL1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    83544 (DNAL1)
   04812 Cytoskeleton proteins [BR:hsa04812]
    83544 (DNAL1)
Cilium and associated proteins [BR:hsa03037]
 Motile cilia and associated proteins
  Dynein arm
   83544 (DNAL1)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Microtubules
   Tubulin-binding proteins
    Dyneins
     83544 (DNAL1)
SSDB
Motif
Pfam: LRR_4 LRR_9 LRR_8
Other DBs
NCBI-GeneID: 83544
NCBI-ProteinID: NP_113615
OMIM: 610062
HGNC: 23247
Ensembl: ENSG00000119661
Pharos: Q4LDG9(Tbio)
UniProt: Q4LDG9
Structure
LinkDB
Position
14:73644986..73703732
AA seq 190 aa
MAKATTIKEALARWEEKTGQRPSEAKEIKLYAQIPPIEKMDASLSMLANCEKLSLSTNCI
EKIANLNGLKNLRILSLGRNNIKNLNGLEAVGDTLEELWISYNFIEKLKGIHIMKKLKIL
YMSNNLVKDWAEFVKLAELPCLEDLVFVGNPLEEKHSAENNWIEEATKRVPKLKKLDGTP
VIKGDEEEDN
NT seq 573 nt   +upstreamnt  +downstreamnt
atggcgaaagcaacaacaatcaaagaagccttagcgagatgggaagagaaaactggccag
aggccatctgaagccaaagagataaaactttatgcccagattccccctatagagaagatg
gatgcatccttgtccatgcttgctaattgcgagaagctttcactgtctacaaactgcatt
gaaaaaattgccaacctgaatggcttaaaaaacttgaggatattatctttaggaagaaac
aacataaagaacttaaatggactggaggcagtaggggacacattagaagaactgtggatc
tcctacaattttattgagaagttgaaagggatccacataatgaagaaattgaagattctc
tacatgtctaataacctggtaaaagactgggctgagtttgtgaagctggcagaactgcca
tgcctcgaagacctggtgtttgtaggcaatcccttggaagagaaacattctgctgagaat
aactggattgaagaagcaaccaagagagtgcccaaactgaaaaagctggatggtactcca
gtaattaaaggggatgaggaagaagacaactaa

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