KEGG   Homo sapiens (human): 23327
Entry
23327             CDS       T01001                                 

Gene name
NEDD4L, NEDD4-2, NEDD4.2, PVNH7, RSP5, hNEDD4-2
Definition
(RefSeq) NEDD4 like E3 ubiquitin protein ligase
  KO
K13305  E3 ubiquitin-protein ligase NEDD4-like [EC:2.3.2.26]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04120  Ubiquitin mediated proteolysis
hsa04144  Endocytosis
hsa04530  Tight junction
hsa04960  Aldosterone-regulated sodium reabsorption
Disease
H00270  Periventricular nodular heterotopia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04120 Ubiquitin mediated proteolysis
    23327 (NEDD4L)
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    23327 (NEDD4L)
  09144 Cellular community - eukaryotes
   04530 Tight junction
    23327 (NEDD4L)
 09150 Organismal Systems
  09155 Excretory system
   04960 Aldosterone-regulated sodium reabsorption
    23327 (NEDD4L)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    23327 (NEDD4L)
   04121 Ubiquitin system [BR:hsa04121]
    23327 (NEDD4L)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.2  Aminoacyltransferases
    2.3.2.26  HECT-type E3 ubiquitin transferase
     23327 (NEDD4L)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Clathrin-mediated endocytosis
   Ubiquitin E3 ligases
    23327 (NEDD4L)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  HECT type E3
   23327 (NEDD4L)
SSDB
Motif
Pfam: HECT WW C2
Other DBs
NCBI-GeneID: 23327
NCBI-ProteinID: NP_001138439
OMIM: 606384
HGNC: 7728
Ensembl: ENSG00000049759
Vega: OTTHUMG00000179875
Pharos: Q96PU5(Tbio)
UniProt: Q96PU5
Structure
PDB: 

Position
18q21.31
AA seq 975 aa
MATGLGEPVYGLSEDEGESRILRVKVVSGIDLAKKDIFGASDPYVKLSLYVADENRELAL
VQTKTIKKTLNPKWNEEFYFRVNPSNHRLLFEVFDENRLTRDDFLGQVDVPLSHLPTEDP
TMERPYTFKDFLLRPRSHKSRVKGFLRLKMAYMPKNGGQDEENSDQRDDMEHGWEVVDSN
DSASQHQEELPPPPLPPGWEEKVDNLGRTYYVNHNNRTTQWHRPSLMDVSSESDNNIRQI
NQEAAHRRFRSRRHISEDLEPEPSEGGDVPEPWETISEEVNIAGDSLGLALPPPPASPGS
RTSPQELSEELSRRLQITPDSNGEQFSSLIQREPSSRLRSCSVTDAVAEQGHLPPPSAPA
GRARSSTVTGGEEPTPSVAYVHTTPGLPSGWEERKDAKGRTYYVNHNNRTTTWTRPIMQL
AEDGASGSATNSNNHLIEPQIRRPRSLSSPTVTLSAPLEGAKDSPVRRAVKDTLSNPQSP
QPSPYNSPKPQHKVTQSFLPPGWEMRIAPNGRPFFIDHNTKTTTWEDPRLKFPVHMRSKT
SLNPNDLGPLPPGWEERIHLDGRTFYIDHNSKITQWEDPRLQNPAITGPAVPYSREFKQK
YDYFRKKLKKPADIPNRFEMKLHRNNIFEESYRRIMSVKRPDVLKARLWIEFESEKGLDY
GGVAREWFFLLSKEMFNPYYGLFEYSATDNYTLQINPNSGLCNEDHLSYFTFIGRVAGLA
VFHGKLLDGFFIRPFYKMMLGKQITLNDMESVDSEYYNSLKWILENDPTELDLMFCIDEE
NFGQTYQVDLKPNGSEIMVTNENKREYIDLVIQWRFVNRVQKQMNAFLEGFTELLPIDLI
KIFDENELELLMCGLGDVDVNDWRQHSIYKNGYCPNHPVIQWFWKAVLLMDAEKRIRLLQ
FVTGTSRVPMNGFAELYGSNGPQLFTIEQWGSPEKLPRAHTCFNRLDLPPYETFEDLREK
LLMAVENAQGFEGVD
NT seq 2928 nt   +upstreamnt  +downstreamnt
atggcgaccgggctcggggagccggtctatggactttccgaagacgagggagagtcccgt
attctcagagtaaaagttgtttctggaattgatctcgccaaaaaggacatctttggagcc
agtgatccgtatgtgaaactttcattgtacgtagcggatgagaatagagaacttgctttg
gtccagacaaaaacaattaaaaagacactgaacccaaaatggaatgaagaattttatttc
agggtaaacccatctaatcacagactcctatttgaagtatttgacgaaaatagactgaca
cgagacgacttcctgggccaggtggacgtgccccttagtcaccttccgacagaagatcca
accatggagcgaccctatacatttaaggactttctcctcagaccaagaagtcataagtct
cgagttaagggatttttgcgattgaaaatggcctatatgccaaaaaatggaggtcaagat
gaagaaaacagtgaccagagggatgacatggagcatggatgggaagttgttgactcaaat
gactcggcttctcagcaccaagaggaacttcctcctcctcctctgcctcccgggtgggaa
gaaaaagtggacaatttaggccgaacttactatgtcaaccacaacaaccggaccactcag
tggcacagaccaagcctgatggacgtgtcctcggagtcggacaataacatcagacagatc
aaccaggaggcagcacaccggcgcttccgctcccgcaggcacatcagcgaagacttggag
cccgagccctcggagggcggggatgtccccgagccttgggagaccatttcagaggaagtg
aatatcgctggagactctctcggtctggctctgcccccaccaccggcctccccaggatct
cggaccagccctcaggagctgtcagaggaactaagcagaaggcttcagatcactccagac
tccaatggggaacagttcagctctttgattcaaagagaaccctcctcaaggttgaggtca
tgcagtgtcaccgacgcagttgcagaacagggccatctaccaccgcccagtgccccagct
gggagagcgcgttcatcaactgtcacgggtggtgaggaaccaacgccatcagtggcctat
gtacataccacgccgggtctgccttcaggctgggaagaaagaaaagatgctaaggggcgc
acatactatgtcaatcataacaatcgaaccacaacttggactcgacctatcatgcagctt
gcagaagatggtgcgtccggatcagccacaaacagtaacaaccatctaatcgagcctcag
atccgccggcctcgtagcctcagctcgccaacagtaactttatctgccccgctggagggt
gccaaggactcacccgtacgtcgggctgtgaaagacaccctttccaacccacagtcccca
cagccatcaccttacaactcccccaaaccacaacacaaagtcacacagagcttcttgcca
cccggctgggaaatgaggatagcgccaaacggccggcccttcttcattgatcataacaca
aagactacaacctgggaagatccacgtttgaaatttccagtacatatgcggtcaaagaca
tctttaaaccccaatgaccttggcccccttcctcctggctgggaagaaagaattcacttg
gatggccgaacgttttatattgatcataatagcaaaattactcagtgggaagacccaaga
ctgcagaacccagctattactggtccggctgtcccttactccagagaatttaagcagaaa
tatgactacttcaggaagaaattaaagaaacctgctgatatccccaataggtttgaaatg
aaacttcacagaaataacatatttgaagagtcctatcggagaattatgtccgtgaaaaga
ccagatgtcctaaaagctagactgtggattgagtttgaatcagagaaaggtcttgactat
gggggtgtggccagagaatggttcttcttactgtccaaagagatgttcaacccctactac
ggcctctttgagtactctgccacggacaactacacccttcagatcaaccctaattcaggc
ctctgtaatgaggatcatttgtcctacttcacttttattggaagagttgctggtctggcc
gtatttcatgggaagctcttagatggtttcttcattagaccattttacaagatgatgttg
ggaaagcagataaccctgaatgacatggaatctgtggatagtgaatattacaactctttg
aaatggatcctggagaatgaccctactgagctggacctcatgttctgcatagacgaagaa
aactttggacagacatatcaagtggatttgaagcccaatgggtcagaaataatggtcaca
aatgaaaacaaaagggaatatatcgacttagtcatccagtggagatttgtgaacagggtc
cagaagcagatgaacgccttcttggagggattcacagaactacttcctattgatttgatt
aaaatttttgatgaaaatgagctggagttgctcatgtgcggcctcggtgatgtggatgtg
aatgactggagacagcattctatttacaagaacggctactgcccaaaccaccccgtcatt
cagtggttctggaaggctgtgctactcatggacgccgaaaagcgtatccggttactgcag
tttgtcacagggacatcgcgagtacctatgaatggatttgccgaactttatggttccaat
ggtcctcagctgtttacaatagagcaatggggcagtcctgagaaactgcccagagctcac
acatgctttaatcgccttgacttacctccatatgaaacctttgaagatttacgagagaaa
cttctcatggccgtggaaaatgctcaaggatttgaaggggtggattaa

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