KEGG   Homo sapiens (human): 27019
Entry
27019             CDS       T01001                                 

Gene name
DNAI1, CILD1, DIC1, ICS1, PCD
Definition
(RefSeq) dynein axonemal intermediate chain 1
  KO
K10409  dynein intermediate 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
    27019 (DNAI1)
   05016 Huntington disease
    27019 (DNAI1)
   05022 Pathways of neurodegeneration - multiple diseases
    27019 (DNAI1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    27019 (DNAI1)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Microtubules
   Tubulin-binding proteins
    Dyneins
     27019 (DNAI1)
SSDB
Motif
Pfam: WD40
Other DBs
NCBI-GeneID: 27019
NCBI-ProteinID: NP_036276
OMIM: 604366
HGNC: 2954
Ensembl: ENSG00000122735
Vega: OTTHUMG00000019825
Pharos: Q9UI46(Tbio)
UniProt: Q9UI46 A0A140VJI0
LinkDB
Position
9p13.3
AA seq 699 aa
MIPASAKAPHKQPHKQSISIGRGTRKRDEDSGTEVGEGTDEWAQSKATVRPPDQLELTDA
ELKEEFTRILTANNPHAPQNIVRYSFKEGTYKPIGFVNQLAVHYTQVGNLIPKDSDEGRR
QHYRDELVAGSQESVKVISETGNLEEDEEPKELETEPGSQTDVPAAGAAEKVTEEELMTP
KQPKERKLTNQFNFSERASQTYNNPVRDRECQTEPPPRTNFSATANQWEIYDAYVEELEK
QEKTKEKEKAKTPVAKKSGKMAMRKLTSMESQTDDLIKLSQAAKIMERMVNQNTYDDIAQ
DFKYYDDAADEYRDQVGTLLPLWKFQNDKAKRLSVTALCWNPKYRDLFAVGYGSYDFMKQ
SRGMLLLYSLKNPSFPEYMFSSNSGVMCLDIHVDHPYLVAVGHYDGNVAIYNLKKPHSQP
SFCSSAKSGKHSDPVWQVKWQKDDMDQNLNFFSVSSDGRIVSWTLVKRKLVHIDVIKLKV
EGSTTEVPEGLQLHPVGCGTAFDFHKEIDYMFLVGTEEGKIYKCSKSYSSQFLDTYDAHN
MSVDTVSWNPYHTKVFMSCSSDWTVKIWDHTIKTPMFIYDLNSAVGDVAWAPYSSTVFAA
VTTDGKAHIFDLAINKYEAICNQPVAAKKNRLTHVQFNLIHPIIIVGDDRGHIISLKLSP
NLRKMPKEKKGQEVQKGPAVEIAKLDKLLNLVREVKIKT
NT seq 2100 nt   +upstreamnt  +downstreamnt
atgattcctgcttctgcgaaggctccccataaacagcctcataagcagagcatcagcata
ggcagaggaaccaggaagagagatgaagattcagggactgaagtgggagaaggcacagat
gaatgggcccaatccaaagccacagttagaccccctgaccagctggagttgaccgatgcg
gagttaaaggaggagttcactcggattttgacagccaacaacccacacgcaccccagaac
attgtcaggtacagcttcaaagaaggcacatataagcctattggctttgtgaaccaactg
gcagttcactacacccaggttgggaacctgatccccaaagactcagatgaaggacggcgg
cagcattaccgcgatgaattagtggcaggttctcaggagtctgtcaaggtgatttcagaa
acaggaaacctcgaagaagacgaagagcccaaggagttagaaactgagcctgggagtcaa
acagatgtgcctgcagctggggcagctgaaaaagtgactgaagaagaattgatgactcct
aagcagcccaaggagagaaagctcactaaccagttcaacttcagtgagagggcctcacag
acctacaacaaccctgtccgggatcgagaatgccagacggagcctcctcccaggacaaac
ttttcagccacagccaatcagtgggagatctatgatgcctatgtagaggaacttgagaag
caggaaaagaccaaagagaaggagaaggcaaagaccccagtggctaaaaaatcagggaag
atggccatgaggaagctgacatctatggagtctcagactgatgatctcatcaaattgtcc
caagctgctaagatcatggagcggatggtcaaccagaatacatatgatgacattgctcaa
gattttaagtactatgacgatgctgctgatgaataccgggaccaggtgggtaccctgctg
ccgctctggaagttccaaaatgacaaagccaagcgcctgtccgtcactgccctctgctgg
aatccaaagtacagggatctgtttgcagtgggatatggctcttatgacttcatgaagcag
agccggggcatgctgctgctctacagcctgaagaaccccagcttccctgagtacatgttc
agcagcaacagcggcgtcatgtgtctcgacatccacgtggaccacccctacctggtggca
gtaggccactatgacggcaacgtggccatttacaacctcaagaagccccactcccagccc
tccttctgcagctcagccaagtctggcaagcactcagaccctgtgtggcaggtcaagtgg
cagaaggatgacatggaccaaaaccttaacttcttctctgtgtcatctgacggcaggatt
gtgtcttggactctcgtgaagagaaagctggttcacatagatgtcatcaagctgaaggtg
gaaggcagcaccacggaagttcctgaggggttgcagctgcacccagtgggttgtggcact
gcctttgacttccacaaagagattgactacatgttcctagtgggcacagaggagggaaaa
atctacaagtgctctaaatcctactccagccaattcctcgacacctatgacgcccacaac
atgtcagtggacactgtgtcctggaacccataccacaccaaggtcttcatgtcctgcagc
tccgactggacagtgaagatctgggaccacaccatcaagaccccgatgttcatctatgac
ctgaactcagccgtgggtgatgtggcctgggcgccatactcttctactgtgttcgcagca
gtcaccacagatgggaaggcccacatatttgacttagccatcaacaagtatgaggccatc
tgcaaccagcctgtggcggccaaaaagaacaggctcacccacgtgcagttcaatctcatc
caccccatcatcattgtgggcgatgaccgtgggcacatcatcagcctcaagctctcaccc
aatttgcgcaagatgccaaaggaaaagaaggggcaggaggtgcagaagggtccagctgtg
gagattgcgaaactggacaaactgctgaacctggtgagggaagtgaaaatcaagacctga

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