KEGG   Homo sapiens (human): 201625
Entry
201625            CDS       T01001                                 

Gene name
DNAH12, DHC3, DLP12, DLP3, DNAH12L, DNAH7L, DNAHC12, DNAHC3, DNHD2, HDHC3, HL-19, HL19
Definition
(RefSeq) dynein axonemal heavy chain 12
  KO
K10408  dynein heavy chain, 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
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    201625 (DNAH12)
   05016 Huntington disease
    201625 (DNAH12)
   05022 Pathways of neurodegeneration - multiple diseases
    201625 (DNAH12)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Microtubules
   Tubulin-binding proteins
    Dyneins
     201625 (DNAH12)
SSDB
Motif
Pfam: Sod_Fe_N
Other DBs
NCBI-GeneID: 201625
NCBI-ProteinID: NP_940966
OMIM: 603340
HGNC: 2943
Ensembl: ENSG00000174844
Vega: OTTHUMG00000158598
Pharos: Q6ZR08(Tdark)
UniProt: Q6ZR08
LinkDB
Position
3p14.3
AA seq 457 aa
MSDANKAAIAAEKEALNLKLPPIVHLPENIGVDTPTQSKLLKYRRSKEQQQKINQLVIDG
AKRNLDRTLGKRTPLLPPPDYPQTMTSEMKKKGFNYIYMKQCVESSPLVPIQQEWLDHML
RLIPESLKEGKEREELLESLINEVSSDFENSMKRYLVQSVLVKPPVKSLEDEGGPLPESP
VGLDYSNPWHSSYVQARNQIFSNLHIIHPTMKMLLDLGYTTFADTVLLDFTGIRAKGPID
CESLKTDLSIQTRNAEEKIMNTWYPKVINLFTKKEALEGVKPEKLDAFYSCVSTLMSNQL
KDLLRRTVEGFVKLFDPKDQQRLPIFKIELTFDDDKMEFYPTFQDLEDNVLSLVERIAEA
LQNVQTIPSWLSGTSTPVNLDTELPEHVLHWAVDTLKAAVHRNLEGARKHYETYVEKYNW
LLDGTAVENIETFQTEDHTFDEYTEELDCWVVWEVYF
NT seq 1374 nt   +upstreamnt  +downstreamnt
atgtcagatgcaaacaaagctgccattgcagcagaaaaggaagctctgaacttgaagtta
ccccccattgtccatctcccagaaaacataggcgttgatacaccaacacaaagtaagctg
ctaaaatacagaagatccaaggagcagcagcagaaaattaatcagttagtaattgatgga
gccaaaagaaatttagacagaacactgggtaaaagaacacctctattaccaccacctgat
tatcctcaaactatgaccagtgaaatgaaaaaaaaaggattcaactatatttatatgaag
caatgtgtagaaagtagtcctttagtacctattcagcaggaatggctggatcacatgtta
aggctgatacctgagtctttaaaggaagggaaagaaagagaagaacttcttgaaagtctc
ataaatgaggtgtcaagtgactttgaaaacagcatgaagagatatttggtgcagagcgtt
cttgtgaaaccaccagttaaatcgcttgaagatgaaggaggtcctttacctgaatctcct
gtaggcctagattattctaatccttggcattctagctatgtgcaggcaagaaatcaaata
ttctctaatttgcacattattcatccaactatgaaaatgttactggaccttggttataca
acatttgctgatacagttttgttggacttcacaggaattagagctaaaggtccaattgac
tgtgaatcactgaaaactgatctatcaatacaaactagaaacgcagaagagaagataatg
aatacatggtatccaaaggttataaatctctttaccaagaaggaggcactagaaggtgtt
aaacctgaaaaattggatgcattttatagctgtgtttccacacttatgtcaaatcagcta
aaggatctattaaggagaactgtagaaggatttgtaaaactctttgacccaaaagatcaa
caaaggctgccaatatttaagatagaattgacatttgatgacgacaaaatggaattttat
cctacctttcaagatttggaagataatgtcttgagtttggtggaacgaatagccgaagct
ctgcagaatgtccaaacaatcccctcttggctatcaggaacttcaacaccagtaaatctt
gacacagaacttcctgaacacgtgttacactgggctgttgatacactgaaggcagcagta
catcggaacttagaaggtgcaagaaagcattatgagacatatgttgaaaaatataattgg
ctccttgatgggactgcagttgagaatatagagacttttcagacagaagatcatactttt
gatgaatatacagaggagctggattgctgggtggtatgggaagtgtatttttaa

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