| Entry |
|
| Gene name |
HAP1, HAP2, HIP5, HLP, hHLP1
|
| Definition |
huntingtin-associated protein 1
|
| Orthology |
| huntingtin-associated protein 1 |
|
| Organism |
|
| Pathway |
| GABAergic synapse | | Huntington's disease |
|
| Class |
Organismal Systems; Nervous system; GABAergic synapse [PATH: hsa04727]
Human Diseases; Neurodegenerative diseases; Huntington's disease [PATH: hsa05016]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
17q21.2-q21.3
|
| AA seq |
602 aa  
MRPKRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGSQF
LSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNSDAPWTRFVFQGPFGSRATGR
GTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYL
LEEVCTAFLIQLLPPVWESVTYGMVLQRERDLNTAARIGQSLVKQNSVLMEENSKLEALL
GSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAH
PCDAPKLISQEALLHQHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILEC
VEQFSEASQQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRMETLPGFQETLAE
ELRTSLRRMISDPVYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEEGLMLAADIM
RGEDFTPAEEFVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELDEATRMNVVT
SALEASGLGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGECPHGALPAASRTSCRSS
CR |
| NT seq |
1809 nt  +upstreamnt +downstreamnt
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 |