VARIANT: 3064v1
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Entry
3064v1 Variant
Name
HTT mutation
Gene
HTT
huntingtin isoform 1 [KO:
K04533
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
613004
Network
nt06461
Huntington disease
nt06466
Pathways of neurodegeneration
Disease
H00059
Huntington disease
Drug target
Tominersen (
DG03151
):
D12012
D12013
Reference
PMID:
20301482
Authors
Caron NS, Wright GEB, Hayden MR
Title
Huntington Disease
Journal
GeneReviews (1993)
LinkDB
All DBs
Homo sapiens (human): 9001
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Entry
9001 CDS
T01001
Symbol
HAP1, HAP2, HIP5, HLP, hHLP1
Name
(RefSeq) huntingtin-associated protein 1 isoform 3
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
nt06461
Huntington disease
nt06466
Pathways of neurodegeneration
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
Ortholog
Paralog
GFIT
Motif
Pfam:
HAP1_N
CDC45
Thg1C
DUF7822
NOA36
Motif
Other DBs
NCBI-GeneID:
9001
NCBI-ProteinID:
NP_001073339
OMIM:
600947
HGNC:
4812
UniProt:
P54257
LinkDB
All DBs
Position
17:complement(41717739..41734646)
Genome browser
AA seq
602 aa
AA seq
DB search
MRPKRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGSQF
LSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNSDAPWTRFVFQGPFGSRATGR
GTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYL
LEEVCTAFLIQLLPPVWESVTYGMVLQRERDLNTAARIGQSLVKQNSVLMEENSKLEALL
GSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAH
PCDAPKLISQEALLHQHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILEC
VEQFSEASQQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRMETLPGFQETLAE
ELRTSLRRMISDPVYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEEGLMLAADIM
RGEDFTPAEEFVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELDEATRMNVVT
SALEASGLGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGECPHGALPAASRTSCRSS
CR
NT seq
1809 nt
NT seq
+upstream
nt +downstream
nt
atgcgcccgaagaggttgggccggtgctgcgcggggagccggctcggacccggggaccca
gcagcactcacctgtgcaccttcgccctcagccagtcccgctccggagccctctgcgcag
ccgcaggcacggggcactggacagagagtaggatcccgagccacctctggatcccagttc
ctctcggaagcccgcaccggagctcgcccggcctcggaggctggagccaaggcaggagcc
cggcgcccgtccgcattctcggccatccaaggggatgtccggtctatgcccgacaattcg
gacgcgccgtggacccgcttcgtattccaagggccgtttggttcccgggccactggccgg
gggactggaaaggcagcgggcatctggaagacgccagccgcctacgttggccggcgaccc
ggggtgtccggccctgagcgcgccgcctttattcgggagctggaggaagcactgtgtcct
aacctacctccgccagtcaaaaagatcacccaggaagacgtcaaagtgatgttatatttg
ctggaggaggtgtgtactgccttcctgatccagcttctcccacctgtctgggagagcgtt
acctatgggatggtcctgcagagagagagggacctgaacactgcagctcgcatcggccag
tccctggtgaaacagaacagtgttttgatggaggagaacagcaagctggaagccctgctg
ggctcagccaaggaggagattttatacctcagacaccaggtgaacttgcgggatgagctc
ctccagctctactcagattctgatgaggaggatgaggatgaagaagaggaggaggaagaa
aaggaggcagaagaggaacaggaagaagaagaagcagaggaagacctgcagtgtgctcat
ccctgtgatgcccctaagctgatttcgcaggaggcattgctgcaccagcaccactgccca
cagctggaagccttgcaggagaagctgaggctgctggaggaggagaatcatcagctgaga
gaagaggcctctcaactcgacactcttgaggatgaggaacagatgctcattctggagtgt
gtggagcagttttcggaggccagccaacagatggctgagctgtcggaggtgctggtgctc
aggctggaaaactatgaacggcagcagcaggaggtcgctcggctgcaggcccaggtgctg
aagctgcagcagcgctgccggatggagactcttcctggtttccaggagacgctggctgag
gagctcagaacgtctctaaggaggatgatctcagaccctgtgtattttatggagaggaat
tatgagatgcccagaggggacacatccagcctaaggtatgattttcgctacagtgaggat
cgagagcaggtgcgggggtttgaggctgaggaagggttgatgctggcagcggatatcatg
cggggggaagatttcacgcctgcggaggagttcgtgccccaggaggagctgggggctgcc
aagaaggtgccggctgaggaaggggtgatggaagaggcagagctggtgtcagaggagacc
gagggctgggaggaggtggaactggagctggatgaggcaacgcggatgaacgtggtgaca
tcagccctggaggccagcggcttgggcccttcacacctggacatgaattatgtcctccag
cagctggccaactggcaagatgcccattacaggcggcagctgaggtggaagatgctccag
aaaggtgagtgcccccacggggccctccctgccgccagccggacaagctgcagatcgtcg
tgccgatga
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