KEGG   VARIANT: 3064v1
Entry
3064v1                      Variant                                

Name
HTT mutation
Gene
HTT  huntingtin [KO:K04533]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613004
Network
nt06410  Calcium signaling
nt06413  Autophagy
nt06414  Apoptosis
nt06416  TNF signaling
nt06418  Oxidative phosphorylation
nt06419  Microtubule-based transport
nt06420  Ubiquitin-proteasome system
nt06440  Transcription
nt06461  Huntington disease
  Element
N00977  Mutation-caused aberrant Htt to retrograde axonal transport
N00979  Mutation-caused aberrant Htt to anterograde axonal transport
N00980  Mutation-caused aberrant Htt to REST-mediated transcriptional repression
N00981  Mutation-caused aberrant Htt to CREB-mediated transcription
N00982  Mutation-caused aberrant Htt to p53-mediated transcription
N00983  Mutation-caused aberrant Htt to extrinsic apoptotic pathway
N00985  Mutation-caused aberrant Htt to mGluR5-Ca2+ -apoptotic pathway
N00986  Mutation-caused aberrant Htt to VGCC-Ca2+ -apoptotic pathway
N00987  Mutation-caused aberrant Htt to transport of calcium
N00989  Mutation-caused aberrant Htt to electron transfer in Complex II
N00991  Mutation-caused aberrant Htt to electron transfer in Complex III
N00992  Mutation-caused aberrant Htt to TNF-JNK signaling pathway
N00993  Mutation-caused aberrant Htt to autophagy-vesicle nucleation
N01061  Mutation-caused aberrant Htt to 26S proteasome-mediated protein degradation
Drug target
Tominersen (DG03151): D12012 D12013
Reference
  Authors
Caron NS, Wright GEB, Hayden MR
  Title
Huntington Disease
  Journal
GeneReviews (1993)
LinkDB

KEGG   Homo sapiens (human): 9001
Entry
9001              CDS       T01001                                 

Gene name
HAP1, HAP2, HIP5, HLP, hHLP1
Definition
(RefSeq) huntingtin associated protein 1
  KO
K04647  huntingtin-associated protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04727  GABAergic synapse
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06419  Microtubule-based transport
nt06461  Huntington disease
  Element
N00977  Mutation-caused aberrant Htt to retrograde axonal transport
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04727 GABAergic synapse
    9001 (HAP1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    9001 (HAP1)
   05016 Huntington disease
    9001 (HAP1)
   05022 Pathways of neurodegeneration - multiple diseases
    9001 (HAP1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    9001 (HAP1)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Calcium ion-dependent exocytosis
   Others
    9001 (HAP1)
SSDB
Motif
Pfam: HAP1_N NOA36 bZIP_1
Other DBs
NCBI-GeneID: 9001
NCBI-ProteinID: NP_817084
OMIM: 600947
HGNC: 4812
Ensembl: ENSG00000173805
Vega: OTTHUMG00000133498
Pharos: P54257(Tbio)
UniProt: P54257
LinkDB
Position
17q21.2
AA seq 619 aa
MRPKRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGSQF
LSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNSDAPWTRFVFQGPFGSRATGR
GTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYL
LEELLPPVWESVTYGMVLQRERDLNTAARIGQSLVKQNSVLMEENSKLEALLGSAKEEIL
YLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAHPCDAPKLI
SQEALLHQHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQFSEAS
QQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRMYGAETEKLQKQLASEKEIQM
QLQEEETLPGFQETLAEELRTSLRRMISDPVYFMERNYEMPRGDTSSLRYDFRYSEDREQ
VRGFEAEEGLMLAADIMRGEDFTPAEEFVPQEELGAAKKVPAEEGVMEEAELVSEETEGW
EEVELELDEATRMNVVTSALEASGLGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGE
CPHGALPAASRTSCRSSCR
NT seq 1860 nt   +upstreamnt  +downstreamnt
atgcgcccgaagaggttgggccggtgctgcgcggggagccggctcggacccggggaccca
gcagcactcacctgtgcaccttcgccctcagccagtcccgctccggagccctctgcgcag
ccgcaggcacggggcactggacagagagtaggatcccgagccacctctggatcccagttc
ctctcggaagcccgcaccggagctcgcccggcctcggaggctggagccaaggcaggagcc
cggcgcccgtccgcattctcggccatccaaggggatgtccggtctatgcccgacaattcg
gacgcgccgtggacccgcttcgtattccaagggccgtttggttcccgggccactggccgg
gggactggaaaggcagcgggcatctggaagacgccagccgcctacgttggccggcgaccc
ggggtgtccggccctgagcgcgccgcctttattcgggagctggaggaagcactgtgtcct
aacctacctccgccagtcaaaaagatcacccaggaagacgtcaaagtgatgttatatttg
ctggaggagcttctcccacctgtctgggagagcgttacctatgggatggtcctgcagaga
gagagggacctgaacactgcagctcgcatcggccagtccctggtgaaacagaacagtgtt
ttgatggaggagaacagcaagctggaagccctgctgggctcagccaaggaggagatttta
tacctcagacaccaggtgaacttgcgggatgagctcctccagctctactcagattctgat
gaggaggatgaggatgaagaagaggaggaggaagaaaaggaggcagaagaggaacaggaa
gaagaagaagcagaggaagacctgcagtgtgctcatccctgtgatgcccctaagctgatt
tcgcaggaggcattgctgcaccagcaccactgcccacagctggaagccttgcaggagaag
ctgaggctgctggaggaggagaatcatcagctgagagaagaggcctctcaactcgacact
cttgaggatgaggaacagatgctcattctggagtgtgtggagcagttttcggaggccagc
caacagatggctgagctgtcggaggtgctggtgctcaggctggaaaactatgaacggcag
cagcaggaggtcgctcggctgcaggcccaggtgctgaagctgcagcagcgctgccggatg
tatggggctgagactgaaaagttgcagaagcagctggcttcggagaaggaaatccagatg
cagctccaggaagaggagactcttcctggtttccaggagacgctggctgaggagctcaga
acgtctctaaggaggatgatctcagaccctgtgtattttatggagaggaattatgagatg
cccagaggggacacatccagcctaaggtatgattttcgctacagtgaggatcgagagcag
gtgcgggggtttgaggctgaggaagggttgatgctggcagcggatatcatgcggggggaa
gatttcacgcctgcggaggagttcgtgccccaggaggagctgggggctgccaagaaggtg
ccggctgaggaaggggtgatggaagaggcagagctggtgtcagaggagaccgagggctgg
gaggaggtggaactggagctggatgaggcaacgcggatgaacgtggtgacatcagccctg
gaggccagcggcttgggcccttcacacctggacatgaattatgtcctccagcagctggcc
aactggcaagatgcccattacaggcggcagctgaggtggaagatgctccagaaaggtgag
tgcccccacggggccctccctgccgccagccggacaagctgcagatcgtcgtgccgatga

DBGET integrated database retrieval system