Homo sapiens (human): 6400
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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)
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Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Sel1
fn2
TPR_27
Motif
Other DBs
NCBI-GeneID:
6400
NCBI-ProteinID:
NP_005056
OMIM:
602329
HGNC:
10717
Ensembl:
ENSG00000071537
UniProt:
Q9UBV2
Q3ZCU6
LinkDB
All DBs
Position
14:complement(81471547..81533853)
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AA seq
794 aa
AA seq
DB search
MRVRIGLTLLLCAVLLSLASASSDEEGSQDESLDSKTTLTSDESVKDHTTAGRVVAGQIF
LDSEESELESSIQEEEDSLKSQEGESVTEDISFLESPNPENKDYEEPKKVRKPALTAIEG
TAHGEPCHFPFLFLDKEYDECTSDGREDGRLWCATTYDYKADEKWGFCETEEEAAKRRQM
QEAEMMYQTGMKILNGSNKKSQKREAYRYLQKAASMNHTKALERVSYALLFGDYLPQNIQ
AAREMFEKLTEEGSPKGQTALGFLYASGLGVNSSQAKALVYYTFGALGGNLIAHMVLGYR
YWAGIGVLQSCESALTHYRLVANHVASDISLTGGSVVQRIRLPDEVENPGMNSGMLEEDL
IQYYQFLAEKGDVQAQVGLGQLHLHGGRGVEQNHQRAFDYFNLAANAGNSHAMAFLGKMY
SEGSDIVPQSNETALHYFKKAADMGNPVGQSGLGMAYLYGRGVQVNYDLALKYFQKAAEQ
GWVDGQLQLGSMYYNGIGVKRDYKQALKYFNLASQGGHILAFYNLAQMHASGTGVMRSCH
TAVELFKNVCERGRWSERLMTAYNSYKDGDYNAAVIQYLLLAEQGYEVAQSNAAFILDQR
EASIVGENETYPRALLHWNRAASQGYTVARIKLGDYHFYGFGTDVDYETAFIHYRLASEQ
QHSAQAMFNLGYMHEKGLGIKQDIHLAKRFYDMAAEASPDAQVPVFLALCKLGVVYFLQY
IRETNIRDMFTQLDMDQLLGPEWDLYLMTIIALLLGTVIAYRQRQHQDMPAPRPPGPRPA
PPQQEGPPEQQPPQ
NT seq
2385 nt
NT seq
+upstream
nt +downstream
nt
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
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