KEGG   Homo sapiens (human): 6400
Entry
6400              CDS       T01001                                 
Symbol
SEL1L, Hrd3, NEDGSAF, NEDHGFA, PRO1063, SEL1-LIKE, SEL1L1
Name
(RefSeq) SEL1L adaptor subunit of SYVN1 ubiquitin ligase
  KO
K14026  SEL1 protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04141  Protein processing in endoplasmic reticulum
Disease
H02535  Neurodevelopmental disorder with dysmorphic facies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04141 Protein processing in endoplasmic reticulum
    6400 (SEL1L)
SSDB
Motif
Pfam: Sel1 fn2 TPR_27
Other DBs
NCBI-GeneID: 6400
NCBI-ProteinID: NP_005056
OMIM: 602329
HGNC: 10717
Ensembl: ENSG00000071537
UniProt: Q9UBV2 Q3ZCU6
Structure
Position
14:complement(81471547..81533853)
AA seq 794 aa
MRVRIGLTLLLCAVLLSLASASSDEEGSQDESLDSKTTLTSDESVKDHTTAGRVVAGQIF
LDSEESELESSIQEEEDSLKSQEGESVTEDISFLESPNPENKDYEEPKKVRKPALTAIEG
TAHGEPCHFPFLFLDKEYDECTSDGREDGRLWCATTYDYKADEKWGFCETEEEAAKRRQM
QEAEMMYQTGMKILNGSNKKSQKREAYRYLQKAASMNHTKALERVSYALLFGDYLPQNIQ
AAREMFEKLTEEGSPKGQTALGFLYASGLGVNSSQAKALVYYTFGALGGNLIAHMVLGYR
YWAGIGVLQSCESALTHYRLVANHVASDISLTGGSVVQRIRLPDEVENPGMNSGMLEEDL
IQYYQFLAEKGDVQAQVGLGQLHLHGGRGVEQNHQRAFDYFNLAANAGNSHAMAFLGKMY
SEGSDIVPQSNETALHYFKKAADMGNPVGQSGLGMAYLYGRGVQVNYDLALKYFQKAAEQ
GWVDGQLQLGSMYYNGIGVKRDYKQALKYFNLASQGGHILAFYNLAQMHASGTGVMRSCH
TAVELFKNVCERGRWSERLMTAYNSYKDGDYNAAVIQYLLLAEQGYEVAQSNAAFILDQR
EASIVGENETYPRALLHWNRAASQGYTVARIKLGDYHFYGFGTDVDYETAFIHYRLASEQ
QHSAQAMFNLGYMHEKGLGIKQDIHLAKRFYDMAAEASPDAQVPVFLALCKLGVVYFLQY
IRETNIRDMFTQLDMDQLLGPEWDLYLMTIIALLLGTVIAYRQRQHQDMPAPRPPGPRPA
PPQQEGPPEQQPPQ
NT seq 2385 nt   +upstreamnt  +downstreamnt
atgcgggtccggatagggctgacgctgctgctgtgtgcggtgctgctgagcttggcctcg
gcgtcctcggatgaagaaggcagccaggatgaatccttagattccaagactactttgaca
tcagatgagtcagtaaaggaccatactactgcaggcagagtagttgctggtcaaatattt
cttgattcagaagaatctgaattagaatcctctattcaagaagaggaagacagcctcaag
agccaagagggggaaagtgtcacagaagatatcagctttctagagtctccaaatccagaa
aacaaggactatgaagagccaaagaaagtacggaaaccagctttgaccgccattgaaggc
acagcacatggggagccctgccacttcccttttcttttcctagataaggagtatgatgaa
tgtacatcagatgggagggaagatggcagactgtggtgtgctacaacctatgactacaaa
gcagatgaaaagtggggcttttgtgaaactgaagaagaggctgctaagagacggcagatg
caggaagcagaaatgatgtatcaaactggaatgaaaatccttaatggaagcaataagaaa
agccaaaaaagagaagcatatcggtatctccaaaaggcagcaagcatgaaccataccaaa
gccctggagagagtgtcatatgctcttttatttggtgattacttgccacagaatatccag
gcagcgagagagatgtttgagaagctgactgaggaaggctctcccaagggacagactgct
cttggctttctgtatgcctctggacttggtgttaattcaagtcaggcaaaggctcttgta
tattatacatttggagctcttgggggcaatctaatagcccacatggttttgggttacaga
tactgggctggcatcggcgtcctccagagttgtgaatctgccctgactcactatcgtctt
gttgccaatcatgttgctagtgatatctcgctaacaggaggctcagtagtacagagaata
cggctgcctgatgaagtggaaaatccaggaatgaacagtggaatgctagaagaagatttg
attcaatattaccagttcctagctgaaaaaggtgatgtacaagcacaggttggtcttgga
caactgcacctgcacggagggcgtggagtagaacagaatcatcagagagcatttgactac
ttcaatttagcagcaaatgctggcaattcacatgccatggcctttttgggaaagatgtat
tcggaaggaagtgacattgtacctcagagtaatgagacagctctccactactttaagaaa
gctgctgacatgggcaacccagttggacagagtgggcttggaatggcctacctctatggg
agaggagttcaagttaattatgatctagcccttaagtatttccagaaagctgctgaacaa
ggctgggtggatgggcagctacagcttggttccatgtactataatggcattggagtcaag
agagattataaacaggccttgaagtattttaatttagcttctcagggaggccatatcttg
gctttctataacctagctcagatgcatgccagtggcaccggcgtgatgcgatcatgtcac
actgcagtggagttgtttaagaatgtatgtgaacgaggccgttggtctgaaaggcttatg
actgcctataacagctataaagatggcgattacaatgctgcagtgatccagtacctcctc
ctggctgaacagggctatgaagtggcacaaagcaatgcagcctttattcttgatcagaga
gaagcaagcattgtaggtgagaatgaaacttatcccagagctttgctacattggaacagg
gccgcctctcaaggctatactgtggctagaattaagctcggagactaccatttctatggg
tttggcaccgatgtagattatgaaactgcatttattcattaccgtctggcttctgagcag
caacacagtgcacaagctatgtttaatctgggatatatgcatgagaaaggactgggcatt
aaacaggatattcaccttgcgaaacgtttttatgacatggcagctgaagccagcccagat
gcacaagttccagtcttcctagccctctgcaaattgggcgtcgtctatttcttgcagtac
atacgggaaacaaacattcgagatatgttcacccaacttgatatggaccagcttttggga
cctgagtgggacctttacctcatgaccatcattgcgctgctgttgggaacagtcatagct
tacaggcaaaggcagcaccaagacatgcctgcacccaggcctccagggccacggccagct
ccaccccagcaggaggggccaccagagcagcagccaccacagtaa

  All links  
Disease (3)   
   OMIM (3)   
Gene (19)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (11)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (34)   
   RefSeq(nuc) (8)   
   GenBank (13)   
   EMBL (13)   
3D Structure (3)   
   PDB (3)   
Protein domain (3)   
   Pfam (3)   
All databases (73)   

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KEGG   Homo sapiens (human): 80343
Entry
80343             CDS       T01001                                 
Symbol
SEL1L2, C20orf50, sel-1L2
Name
(RefSeq) SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase
  KO
K14026  SEL1 protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04141  Protein processing in endoplasmic reticulum
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04141 Protein processing in endoplasmic reticulum
    80343 (SEL1L2)
SSDB
Motif
Pfam: Sel1
Other DBs
NCBI-GeneID: 80343
NCBI-ProteinID: NP_001258468
OMIM: 614289
HGNC: 15897
Ensembl: ENSG00000101251
UniProt: Q5TEA6
Position
20:complement(13849247..13995333)
AA seq 575 aa
MKPLSLLIEILIILGVTIKTIKAEEHNKRQKERNVTTQVSVNEIKQYLSHILEQRTSSNV
INKRENLLEKKKNQRKIRIKGIQNKDILKRNKNHLQKQAEKNFTDEGDQLFKMGIKVLQQ
SKSQKQKEEAYLLFAKAADMGNLKAMEKMADALLFGNFGVQNITAAIQLYESLAKEGSCK
AQNALGFLSSYGIGMEYDQAKALIYYTFGSAGGNMMSQMILGYRYLSGINVLQNCEVALS
YYKKVADYIADTFEKSEGVPVEKVRLTERPENLSSNSEILDWDIYQYYKFLAERGDVQIQ
VSLGQLHLIGRKGLDQDYYKALHYFLKAAKAGSANAMAFIGKMYLEGNAAVPQNNATAFK
YFSMAASKGNAIGLHGLGLLYFHGKGVPLNYAEALKYFQKAAEKGWPDAQFQLGFMYYSG
SGIWKDYKLAFKYFYLASQSGQPLAIYYLAKMYATGTGVVRSCRTAVEKRLTFLKKRRCI
QWRFSYGIELPFKDIHLARRLYDMAAQTSPDAHIPVLFAVMKLETTHLLRDILFFNFTTR
WNWLKLDNTIGPHWDLFVIGLIVPGLILLLRNHHG
NT seq 1728 nt   +upstreamnt  +downstreamnt
atgaagcccttgtctctgttaatagagatattgataattcttggggtcacaattaaaact
atcaaagcagaggaacataataaaagacaaaaggaaagaaatgtcaccacacaggtatca
gtgaacgaaatcaaacaatatttatcacacatattggaacaaagaacatctagtaatgta
atcaataaaagagaaaatctcctggagaaaaagaagaatcaacgtaaaataagaataaaa
ggaattcaaaataaagatatcttgaagagaaataagaatcatttacaaaagcaagcagag
aaaaattttacagatgaaggagaccagctatttaagatgggcatcaaggttctccagcag
tctaaaagccaaaaacaaaaagaagaagcctacctactttttgccaaagcagctgacatg
ggaaacttgaaagctatggagaaaatggctgacgctttgctatttggaaattttggcgtg
caaaatataacagcagctatccaattatatgagtccttggctaaagaaggatcatgtaaa
gcccaaaacgcattaggatttttgtcttcttatggaataggaatggaatatgatcaagct
aaggcactgatatattacacctttggaagtgctggaggaaacatgatgtcccagatgatt
ttggggtacagatatttgtcgggaatcaatgttctacagaattgtgaagttgccctaagt
tattacaagaaagtggcagattatattgctgacacatttgaaaaaagtgaaggtgttcca
gtggaaaaagtgagactaacggaaagacctgaaaatctgagttctaacagtgagattttg
gattgggacatataccaatactataaatttttggcagaaagaggagatgttcagatacaa
gtctctcttggacaattacatctaattggcaggaaaggtctagatcaggattactacaaa
gcattacactacttcttaaaggcagcaaaggccgggagtgcaaatgccatggcatttata
ggaaagatgtatttagaggggaatgctgccgtgccgcaaaataacgctactgccttcaag
tacttttccatggcagccagtaagggcaatgcaatcggccttcatgggcttggtcttctt
tactttcatggaaaaggagttcccctgaattatgccgaagcacttaaatactttcagaaa
gctgcggaaaaagggtggcccgacgcacagttccagttaggcttcatgtactactctggc
tctggaatatggaaggattataaacttgccttcaaatatttttacctggcatctcagagt
gggcagccccttgccatttattatctggccaagatgtatgcaacaggaacaggagtagta
agatcatgcagaactgctgtggagaaaaggctaacattcttgaaaaagagaagatgtatc
caatggcgcttctcctatggaatcgagctgccattcaaggacattcacttggccagaaga
ttgtacgacatggctgctcaaacgagtccagatgcccacatacctgtgctctttgccgtc
atgaaactggaaactacgcatttgctccgggatatcctgttttttaatttcacaacgaga
tggaactggctgaaactggacaacaccattggaccacactgggacttatttgtgattggc
ctcattgttcctgggctgattttgttgcttagaaatcaccatgggtag

  All links  
Disease (1)   
   OMIM (1)   
Gene (16)   
   RefGene (11)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (56)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (54)   
DNA sequence (84)   
   RefSeq(nuc) (68)   
   GenBank (8)   
   EMBL (8)   
Protein domain (1)   
   Pfam (1)   
All databases (158)   

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