KEGG   Homo sapiens (human): 83737Help
Entry
83737             CDS       T01001                                 

Gene name
ITCH, ADMFD, AIF4, AIP4, NAPP1
Definition
(RefSeq) itchy E3 ubiquitin protein ligase
  KO
K05632  E3 ubiquitin-protein ligase Itchy [EC:2.3.2.26]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04120  Ubiquitin mediated proteolysis
hsa04144  Endocytosis
hsa04668  TNF signaling pathway
hsa04932  Non-alcoholic fatty liver disease (NAFLD)
Disease
H01232  Syndromic multisystem autoimmune disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04120 Ubiquitin mediated proteolysis
    83737 (ITCH)
 09130 Environmental Information Processing
  09132 Signal transduction
   04668 TNF signaling pathway
    83737 (ITCH)
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    83737 (ITCH)
 09160 Human Diseases
  09166 Endocrine and metabolic diseases
   04932 Non-alcoholic fatty liver disease (NAFLD)
    83737 (ITCH)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    83737 (ITCH)
   04121 Ubiquitin system [BR:hsa04121]
    83737 (ITCH)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.2  Aminoacyltransferases
    2.3.2.26  HECT-type E3 ubiquitin transferase
     83737 (ITCH)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Clathrin-mediated endocytosis
   Ubiquitin E3 ligases
    83737 (ITCH)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  HECT type E3
   83737 (ITCH)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: HECT WW C2
Motif
Other DBs
NCBI-GeneID: 83737
NCBI-ProteinID: NP_001244066
OMIM: 606409
HGNC: 13890
Ensembl: ENSG00000078747
Vega: OTTHUMG00000032300
Pharos: Q96J02(Tbio)
UniProt: Q96J02
Structure
PDB: 

Position
20q11.22
AA seq 903 aa AA seqDB search
MSDSGSQLGSMGSLTMKSQLQITVISAKLKENKKNWFGPSPYVEVTVDGQSKKTEKCNNT
NSPKWKQPLTVIVTPVSKLHFRVWSHQTLKSDVLLGTAALDIYETLKSNNMKLEEVVVTL
QLGGDKEPTETIGDLSICLDGLQLESEVVTNGETTCSENGVSLCLPRLECNSAISAHCNL
CLPGLSDSPISASRVAGFTGASQNDDGSRSKDETRVSTNGSDDPEDAGAGENRRVSGNNS
PSLSNGGFKPSRPPRPSRPPPPTPRRPASVNGSPSATSESDGSSTGSLPPTNTNTNTSEG
ATSGLIIPLTISGGSGPRPLNPVTQAPLPPGWEQRVDQHGRVYYVDHVEKRTTWDRPEPL
PPGWERRVDNMGRIYYVDHFTRTTTWQRPTLESVRNYEQWQLQRSQLQGAMQQFNQRFIY
GNQDLFATSQSKEFDPLGPLPPGWEKRTDSNGRVYFVNHNTRITQWEDPRSQGQLNEKPL
PEGWEMRFTVDGIPYFVDHNRRTTTYIDPRTGKSALDNGPQIAYVRDFKAKVQYFRFWCQ
QLAMPQHIKITVTRKTLFEDSFQQIMSFSPQDLRRRLWVIFPGEEGLDYGGVAREWFFLL
SHEVLNPMYCLFEYAGKDNYCLQINPASYINPDHLKYFRFIGRFIAMALFHGKFIDTGFS
LPFYKRILNKPVGLKDLESIDPEFYNSLIWVKENNIEECDLEMYFSVDKEILGEIKSHDL
KPNGGNILVTEENKEEYIRMVAEWRLSRGVEEQTQAFFEGFNEILPQQYLQYFDAKELEV
LLCGMQEIDLNDWQRHAIYRHYARTSKQIMWFWQFVKEIDNEKRMRLLQFVTGTCRLPVG
GFADLMGSNGPQKFCIEKVGKENWLPRSHTCFNRLDLPPYKSYEQLKEKLLFAIEETEGF
GQE
NT seq 2712 nt NT seq  +upstreamnt  +downstreamnt
atgtctgacagtggatcacaacttggttcaatgggtagcctcaccatgaaatcacagctt
cagatcactgtcatctcagcaaaacttaaggaaaataagaagaattggtttggaccaagt
ccttacgtagaggtcacagtagatggacagtcaaagaagacagaaaaatgcaacaacaca
aacagtcccaagtggaagcaaccccttacagttatcgttacccctgtgagtaaattacat
tttcgtgtgtggagtcaccagacactgaaatctgatgttttgttgggaactgctgcatta
gatatttatgaaacattaaagtcaaacaatatgaaacttgaagaagtagttgtgactttg
cagcttggaggtgacaaagagccaacagagacaataggagacttgtcaatttgtcttgat
gggctacagttagagtctgaagttgttaccaatggtgaaactacatgttcagaaaatggg
gtttcgctctgtttgcccaggctggagtgcaatagtgcgatctcggctcactgcaacctc
tgcctcccgggtttaagtgattctcctatctcagcctcccgagtagctgggtttacaggt
gcttctcagaatgatgatggctccagatccaaggatgaaacaagagtgagcacaaatgga
tcagatgaccctgaagatgcaggagctggtgaaaataggagagtcagtgggaataattct
ccatcactctcaaatggtggttttaaaccttctagacctccaagaccttcacgaccacca
ccacccaccccacgtagaccagcatctgtcaatggttcaccatctgccacttctgaaagt
gatgggtctagtacaggctctctgccgccgacaaatacaaatacaaatacatctgaagga
gcaacatctggattaataattcctcttactatatctggaggctcaggccctaggccatta
aatcctgtaactcaagctcccttgccacctggttgggagcagagagtggaccagcacggg
cgagtttactatgtagatcatgttgagaaaagaacaacatgggatagaccagaacctcta
cctcctggctgggaacggcgggttgacaacatgggacgtatttattatgttgaccatttc
acaagaacaacaacgtggcagaggccaacactggaatccgtccggaactatgaacaatgg
cagctacagcgtagtcagcttcaaggagcaatgcagcagtttaaccagagattcatttat
gggaatcaagatttatttgctacatcacaaagtaaagaatttgatcctcttggtccattg
ccacctggatgggagaagagaacagacagcaatggcagagtatatttcgtcaaccacaac
acacgaattacacaatgggaagaccccagaagtcaaggtcaattaaatgaaaagccctta
cctgaaggttgggaaatgagattcacagtggatggaattccatattttgtggaccacaat
agaagaactaccacctatatagatccccgcacaggaaaatctgccctagacaatggacct
cagatagcctatgttcgggacttcaaagcaaaggttcagtatttccggttctggtgtcag
caactggccatgccacagcacataaagattacagtgacaagaaaaacattgtttgaggat
tcctttcaacagataatgagcttcagtccccaagatctgcgaagacgtttgtgggtgatt
tttccaggagaagaaggtttagattatggaggtgtagcaagagaatggttctttcttttg
tcacatgaagtgttgaacccaatgtattgcctgtttgaatatgcagggaaggataactac
tgcttgcagataaaccccgcttcttacatcaatccagatcacctgaaatattttcgtttt
attggcagatttattgccatggctctgttccatgggaaattcatagacacgggtttttct
ttaccattctataagcgtatcttgaacaaaccagttggactcaaggatttagaatctatt
gatccagaattttacaattctctcatctgggttaaggaaaacaatattgaggaatgtgat
ttggaaatgtacttctccgttgacaaagaaattctaggtgaaattaagagtcatgatctg
aaacctaatggtggcaatattcttgtaacagaagaaaataaagaggaatacatcagaatg
gtagctgagtggaggttgtctcgaggtgttgaagaacagacacaagctttctttgaaggc
tttaatgaaattcttccccagcaatatttgcaatactttgatgcaaaggaattagaggtc
cttttatgtggaatgcaagagattgatttgaatgactggcaaagacatgccatctaccgt
cattatgcaaggaccagcaaacaaatcatgtggttttggcagtttgttaaagaaattgat
aatgagaagagaatgagacttctgcagtttgttactggaacctgccgattgccagtagga
ggatttgctgatctcatggggagcaatggaccacagaaattctgcattgaaaaagttggg
aaagaaaattggctacccagaagtcatacctgttttaatcgcctggacctgccaccatac
aagagctatgagcaactgaaggaaaagctgttgtttgccatagaagaaacagaaggattt
ggacaagagtaa

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