KEGG T01001: 201625

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

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:

NCBI-ProteinID:

OMIM:

HGNC:

Ensembl:

Vega:

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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