KEGG   Homo sapiens (human): 83544
Entry
83544             CDS       T01001                                 

Gene name
DNAL1, C14orf168, CILD16, LC1
Definition
(RefSeq) dynein axonemal light chain 1
  KO
K10411  dynein light chain 1, axonemal
Organism
hsa  Homo sapiens (human)
Pathway
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06419  Microtubule-based transport
nt06461  Huntington disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
  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]
 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
   04812 Cytoskeleton proteins [BR:hsa04812]
    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
Vega: OTTHUMG00000171642
Pharos: Q4LDG9(Tbio)
UniProt: Q4LDG9
LinkDB
Position
14q24.3
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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