KEGG   Homo sapiens (human): 57531
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)
SSDB
Motif
Pfam: HECT Ank Ank_2 Ank_4 Ank_3 Ank_5
Other DBs
NCBI-GeneID: 57531
NCBI-ProteinID: NP_065822
OMIM: 610876
HGNC: 21033
Ensembl: ENSG00000085382
UniProt: Q8IYU2
Structure
Position
6:complement(104728094..104859919)
AA seq 909 aa
MERAMEQLNRLTRSLRRARTVELPEDNETAVYTLMPMVMADQHRSVSELLSNSKFDVNYA
FGRVKRSLLHIAANCGSVECLVLLLKKGANPNYQDISGCTPLHLAARNGQKKCMSKLLEY
SADVNICNNEGLTAIHWLAVNGRTELLHDLVQHVSDVDVEDAMGQTALHVACQNGHKTTV
QCLLDSGADINRPNVSGATPLYFACSHGQRDTAQILLLRGAKYLPDKNGVTPLDLCVQGG
YGETCEVLIQYHPRLFQTIIQMTQNEDLRENMLRQVLEHLSQQSESQYLKILTSLAEVAT
TNGHKLLSLSSNYDAQMKSLLRIVRMFCHVFRIGPSSPSNGIDMGYNGNKTPRSQVFKPL
ELLWHSLDEWLVLIATELMKNKRDSTEITSILLKQKGQDQDAASIPPFEPPGPGSYENLS
TGTRESKPDALAGRQEASADCQDVISMTANRLSAVIQAFYMCCSCQMPPGMTSPRFIEFV
CKHDEVLKCFVNRNPKIIFDHFHFLLECPELMSRFMHIIKAQPFKDRCEWFYEHLHSGQP
DSDMVHRPVNENDILLVHRDSIFRSSCEVVSKANCAKLKQGIAVRFHGEEGMGQGVVREW
FDILSNEIVNPDYALFTQSADGTTFQPNSNSYVNPDHLNYFRFAGQILGLALNHRQLVNI
YFTRSFYKHILGIPVNYQDVASIDPEYAKNLQWILDNDISDLGLELTFSVETDVFGAMEE
VPLKPGGGSILVTQNNKAEYVQLVTELRMTRAIQPQINAFLQGFHMFIPPSLIQLFDEYE
LELLLSGMPEIDVSDWIKNTEYTSGYEREDPVIQWFWEVVEDITQEERVLLLQFVTGSSR
VPHGGFANIMGGSGLQNFTIAAVPYTPNLLPTSSTCINMLKLPEYPSKEILKDRLLVALH
CGSYGYTMA
NT seq 2730 nt   +upstreamnt  +downstreamnt
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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Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (13)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (11)   
DNA sequence (52)   
   RefSeq(nuc) (18)   
   GenBank (17)   
   EMBL (17)   
3D Structure (2)   
   PDB (2)   
Protein domain (6)   
   Pfam (6)   
All databases (94)   

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