KEGG   Homo sapiens (human): 10126
Entry
10126             CDS       T01001                                 

Gene name
DNAL4, MRMV3, PIG27
Definition
(RefSeq) dynein axonemal light chain 4
  KO
K10412  dynein light chain 4, 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
H01287  Congenital mirror movements
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    10126 (DNAL4)
   05016 Huntington disease
    10126 (DNAL4)
   05022 Pathways of neurodegeneration - multiple diseases
    10126 (DNAL4)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Microtubules
   Tubulin-binding proteins
    Dyneins
     10126 (DNAL4)
SSDB
Motif
Pfam: Dynein_light DUF3109 Ground-like
Other DBs
NCBI-GeneID: 10126
NCBI-ProteinID: NP_005731
OMIM: 610565
HGNC: 2955
Ensembl: ENSG00000100246
Vega: OTTHUMG00000151025
Pharos: O96015(Tdark)
UniProt: O96015
LinkDB
Position
22q13.1
AA seq 105 aa
MGETEGKKDEADYKRLQTFPLVRHSDMPEEMRVETMELCVTACEKFSNNNESAAKMIKET
MDKKFGSSWHVVIGEGFGFEITHEVKNLLYLYFGGTLAVCVWKCS
NT seq 318 nt   +upstreamnt  +downstreamnt
atgggagaaacagaagggaagaaagatgaggctgattataagcgactgcagaccttccct
ctggtcaggcactcggacatgccagaggagatgcgcgtggagaccatggagctatgtgtc
acagcctgtgagaaattctccaacaacaacgagagcgccgccaagatgatcaaagagaca
atggacaagaagttcggctcctcctggcacgtggtgatcggcgagggctttgggtttgag
atcacccacgaggtgaagaacctcctctacctgtacttcgggggcaccctggctgtgtgc
gtctggaagtgctcctga

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