KEGG T01001: 201625

Homo sapiens (human): 201625

Entry

201625            CDS       T01001

Symbol

DNAH12, DHC3, DLP12, DLP3, DNAH12L, DNAH7L, DNAHC12, DNAHC3, DNHD2, HDHC3, HL-19, HL19

Name

(RefSeq) dynein axonemal heavy chain 12

K10408

dynein axonemal heavy chain

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

Brite

KEGG Orthology (KO) [BR:hsa00001]
09140 Cellular Processes
  09142 Cell motility
   04814 Motor proteins
    201625 (DNAH12)
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)
09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    201625 (DNAH12)
   04812 Cytoskeleton proteins [BR:hsa04812]
    201625 (DNAH12)
Cilium and associated proteins [BR:hsa03037]
Motile cilia and associated proteins
  Dynein arm
   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:

NCBI-ProteinID:

OMIM:

HGNC:

Ensembl:

Pharos:

Q6ZR08(Tdark)

UniProt:

Q6ZR08

LinkDB

Position

3:complement(57293700..57556034)

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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