Homo sapiens (human): 57531
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Entry
57531 CDS
T01001
Symbol
HACE1, SPPRS
Name
(RefSeq) HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
KO
K12166
E3 ubiquitin-protein ligase HACE1 [EC:
2.3.2.26
]
Organism
hsa
Homo sapiens (human)
Disease
H02293
Spastic paraplegia-psychomotor retardation-seizures syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04121 Ubiquitin system [BR:
hsa04121
]
57531 (HACE1)
Enzymes [BR:
hsa01000
]
2. Transferases
2.3 Acyltransferases
2.3.2 Aminoacyltransferases
2.3.2.26 HECT-type E3 ubiquitin transferase
57531 (HACE1)
Ubiquitin system [BR:
hsa04121
]
Ubiquitin ligases (E3)
HECT type E3
57531 (HACE1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
HECT
Ank
Ank_2
Ank_4
Ank_3
Ank_5
ANK_LRRK2
Motif
Other DBs
NCBI-GeneID:
57531
NCBI-ProteinID:
NP_065822
OMIM:
610876
HGNC:
21033
Ensembl:
ENSG00000085382
UniProt:
Q8IYU2
Structure
PDB
PDBj
LinkDB
All DBs
Position
6:complement(104728094..104859919)
Genome browser
AA seq
909 aa
AA seq
DB search
MERAMEQLNRLTRSLRRARTVELPEDNETAVYTLMPMVMADQHRSVSELLSNSKFDVNYA
FGRVKRSLLHIAANCGSVECLVLLLKKGANPNYQDISGCTPLHLAARNGQKKCMSKLLEY
SADVNICNNEGLTAIHWLAVNGRTELLHDLVQHVSDVDVEDAMGQTALHVACQNGHKTTV
QCLLDSGADINRPNVSGATPLYFACSHGQRDTAQILLLRGAKYLPDKNGVTPLDLCVQGG
YGETCEVLIQYHPRLFQTIIQMTQNEDLRENMLRQVLEHLSQQSESQYLKILTSLAEVAT
TNGHKLLSLSSNYDAQMKSLLRIVRMFCHVFRIGPSSPSNGIDMGYNGNKTPRSQVFKPL
ELLWHSLDEWLVLIATELMKNKRDSTEITSILLKQKGQDQDAASIPPFEPPGPGSYENLS
TGTRESKPDALAGRQEASADCQDVISMTANRLSAVIQAFYMCCSCQMPPGMTSPRFIEFV
CKHDEVLKCFVNRNPKIIFDHFHFLLECPELMSRFMHIIKAQPFKDRCEWFYEHLHSGQP
DSDMVHRPVNENDILLVHRDSIFRSSCEVVSKANCAKLKQGIAVRFHGEEGMGQGVVREW
FDILSNEIVNPDYALFTQSADGTTFQPNSNSYVNPDHLNYFRFAGQILGLALNHRQLVNI
YFTRSFYKHILGIPVNYQDVASIDPEYAKNLQWILDNDISDLGLELTFSVETDVFGAMEE
VPLKPGGGSILVTQNNKAEYVQLVTELRMTRAIQPQINAFLQGFHMFIPPSLIQLFDEYE
LELLLSGMPEIDVSDWIKNTEYTSGYEREDPVIQWFWEVVEDITQEERVLLLQFVTGSSR
VPHGGFANIMGGSGLQNFTIAAVPYTPNLLPTSSTCINMLKLPEYPSKEILKDRLLVALH
CGSYGYTMA
NT seq
2730 nt
NT seq
+upstream
nt +downstream
nt
atggagagagcgatggagcaactcaaccgcctgacgcgctcgctgcgccgcgcgcgcacc
gtggagttgcccgaggataatgaaactgctgtttatacattaatgccaatggttatggct
gatcaacacaggtctgtttctgaactactatcaaattcaaaatttgatgtcaattatgca
ttcggacgtgtgaaaagaagcttgcttcacattgcagcaaattgtggatcggtggaatgc
ttggttttgctgttaaagaaaggagcaaatcctaactatcaagatatttcaggctgtaca
ccccttcatttggcagcaagaaatgggcagaagaaatgtatgagtaaattattagaatat
agcgctgatgtcaacatttgtaataatgaaggccttacagcaatacattggctggctgtg
aatgggcggacagaactactccatgaccttgtgcagcatgtcagtgatgttgatgttgag
gatgccatggggcagacagcactgcatgttgcctgccagaacggtcacaagacgacagtg
cagtgcttgctagacagtggtgctgatattaacaggccaaatgtatcaggagcaactcca
ttgtactttgcttgcagtcatggtcagagagatacagcacagatcctactattacgagga
gccaaatatctgccagataaaaatggagtaactcctctggatttatgtgtacagggtgga
tatggagagacttgtgaagtattaattcaatatcacccgaggctttttcagactattatt
caaatgacacagaatgaagacctccgagaaaacatgttacggcaagttctggagcatttg
tctcagcaaagtgaaagccagtacctaaagattctaacaagccttgctgaagttgctaca
acaaatggtcataaactgcttagcctctctagcaattatgatgctcaaatgaagagcctt
ttaaggattgtgagaatgttttgtcacgtctttcgaattggtccatcctcccccagtaat
ggaattgatatgggctacaatgggaataaaactccaagaagccaggtgttcaagcctctg
gaattgctttggcactcgttagatgaatggctagttttaatagccacagaattgatgaaa
aacaaaagagactcaacagagatcacttctattttactgaaacaaaaaggccaagatcaa
gatgctgcttccattcctccatttgaacctccaggacctgggagctatgaaaatctgtcc
actggcacaagggaatctaaaccagatgctcttgcagggagacaggaagccagtgcagat
tgtcaggatgttatttctatgacagctaaccggctaagtgctgtcattcaagctttttac
atgtgctgttcttgtcagatgcctccgggaatgacttcacctcgtttcattgaatttgtc
tgcaaacatgatgaagttttaaaatgctttgttaatagaaatcccaaaattatatttgac
cactttcactttctccttgaatgtcctgagttgatgtcaagattcatgcatatcataaaa
gcacagccttttaaagatcgctgtgaatggttctatgaacatttgcattcaggacagcca
gattcagatatggtgcacaggccagtgaatgaaaatgatatcctgctggttcacagagat
tctatttttaggagtagctgtgaagttgtgtcaaaagcaaattgtgcaaagctaaagcaa
gggattgctgtacggttccatggagaagaaggcatgggtcaaggtgttgtgcgtgagtgg
tttgatattctgtccaatgagatagtcaatcctgattatgcattgtttacccagtcagct
gatggaacaacttttcagcctaatagcaactcttatgtaaatcctgatcacttgaactat
tttcggtttgctgggcagatcttgggattagcgttgaaccacaggcagctggtcaatatt
tacttcacacgatccttctacaagcacattcttggtattcctgtaaattaccaagatgtg
gcatccattgatccagaatatgcgaaaaatttgcaatggattttagataatgatataagt
gatctgggtctagaactaactttttctgttgagactgatgtgtttggagcaatggaagag
gtgcctttgaaacctgggggtgggagtattcttgtgacacaaaataataaagcggagtac
gtccagcttgttactgaacttcgaatgacaagagccattcagcctcagatcaatgctttt
ttacagggctttcatatgttcattccaccctccctcatacagctttttgatgaatatgaa
ttggagctactgctttctggcatgccagaaattgatgtgagtgattggataaaaaataca
gaatacacaagtggctatgaaagagaagatccagttattcagtggttctgggaagttgta
gaagacattactcaagaggagagagttcttctcttacagtttgttacgggcagttccagg
gtcccacatggtgggtttgctaatatcatgggtggaagtggattgcaaaactttacaatc
gctgctgtgccatatactccaaatcttttaccaacttcaagcacatgcatcaacatgctc
aagttacctgaatacccaagtaaagaaatactcaaggacagacttcttgtggcactacat
tgtggcagctatggttacacaatggcataa
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