Homo sapiens (human): 27252
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Entry
27252 CDS
T01001
Symbol
KLHL20, KHLHX, KLEIP, KLHLX
Name
(RefSeq) kelch like family member 20
KO
K10457
kelch-like protein 20
Organism
hsa
Homo sapiens (human)
Disease
H02535
Neurodevelopmental disorder with dysmorphic facies
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04121 Ubiquitin system [BR:
hsa04121
]
27252 (KLHL20)
Ubiquitin system [BR:
hsa04121
]
Ubiquitin ligases (E3)
Multi subunit type E3
Cul3 complex
Adoptor and target recognizing subunit (BTB)
27252 (KLHL20)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Kelch_1
Kelch_KLHDC2_KLHL20_DRC7
BACK
Kelch_2
Beta-prop_Calicin
BTB
Kelch_FKB95
Beta-prop_FBX42
Beta-prop_ATRN-LZTR1
NANM
BTB_KLHL33
BACK_BPM_SPOP
Motif
Other DBs
NCBI-GeneID:
27252
NCBI-ProteinID:
NP_055273
OMIM:
617679
HGNC:
25056
Ensembl:
ENSG00000076321
UniProt:
Q9Y2M5
Structure
PDB
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Position
1:173714981..173786692
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AA seq
609 aa
AA seq
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MEGKPMRRCTNIRPGETGMDVTSRCTLGDPNKLPEGVPQPARMPYISDKHPRQTLEVINL
LRKHRELCDVVLVVGAKKIYAHRVILSACSPYFRAMFTGELAESRQTEVVIRDIDERAME
LLIDFAYTSQITVEEGNVQTLLPAACLLQLAEIQEACCEFLKRQLDPSNCLGIRAFADTH
SCRELLRIADKFTQHNFQEVMESEEFMLLPANQLIDIISSDELNVRSEEQVFNAVMAWVK
YSIQERRPQLPQVLQHVRLPLLSPKFLVGTVGSDPLIKSDEECRDLVDEAKNYLLLPQER
PLMQGPRTRPRKPIRCGEVLFAVGGWCSGDAISSVERYDPQTNEWRMVASMSKRRCGVGV
SVLDDLLYAVGGHDGSSYLNSVERYDPKTNQWSSDVAPTSTCRTSVGVAVLGGFLYAVGG
QDGVSCLNIVERYDPKENKWTRVASMSTRRLGVAVAVLGGFLYAVGGSDGTSPLNTVERY
NPQENRWHTIAPMGTRRKHLGCAVYQDMIYAVGGRDDTTELSSAERYNPRTNQWSPVVAM
TSRRSGVGLAVVNGQLMAVGGFDGTTYLKTIEVFDPDANTWRLYGGMNYRRLGGGVGVIK
MTHCESHIW
NT seq
1830 nt
NT seq
+upstream
nt +downstream
nt
atggaaggaaagccaatgcgcaggtgtaccaacattcgaccaggagagactggaatggat
gtaacaagccgctgcacccttggagaccccaacaaactgccagaaggggttccccaacct
gcccgcatgccctatatctcagacaagcaccctcgacaaaccttggaagtgattaacctt
ctgagaaagcaccgggagctatgtgatgtggtgctagttgtgggcgccaagaagatatat
gcccatcgagtcattttgtcagcctgtagtccctacttccgagctatgtttacaggagaa
ttggcagagagccgtcagacagaagtagtgatccgagacattgacgagagggctatggaa
ttactgattgactttgcgtatacctcccagataacagtagaagagggcaatgttcagact
cttctgccagctgcttgcctcctccagctggcagaaatacaggaagcctgctgtgaattc
ttaaagagacaattagatccttctaactgcctgggcattcgggcttttgctgacacacat
tcatgtcgtgagttgctaaggatagcagacaagttcacccaacataactttcaagaggta
atggagagtgaagagttcatgttgcttccagccaatcaactcattgatataatatccagt
gatgagctaaacgttcgcagtgaagaacaagtgttcaatgcagtgatggcctgggtcaaa
tacagtattcaggaaagacgtcctcaattaccccaggtgctgcagcatgttcgtttgcct
ttgcttagtcccaagttcctggtcggcacagtaggctctgatcccctcatcaaaagtgat
gaagaatgcagagacttggtagatgaggctaaaaactacctcctattgccgcaagaacga
ccactaatgcaaggaccaaggacgagaccacggaaacctatccgatgtggggaagtactc
tttgcagttggtggttggtgcagtggagatgccatttccagtgttgaacgatatgatcca
cagaccaatgaatggagaatggtggcttcaatgagcaaaaggagatgcggagttggggtc
agtgttcttgatgatctgttatatgcagtaggaggccatgatggatcctcttatctcaat
agtgttgaaaggtatgaccccaaaacaaaccagtggagcagtgatgtggcccctacaagc
acctgcaggacaagtgttggtgtagcagtacttggaggctttctttatgctgtgggtggc
caggatggtgtgtcttgcctcaacattgttgagaggtatgatccgaaggagaacaagtgg
actcgggtagcttctatgagtaccagaagactaggtgtggctgtggctgtgttaggaggg
ttcttatatgctgtaggtggctctgacgggacatctcctctcaacacagtggaacgttac
aatcctcaggaaaacagatggcacactatagcccctatggggacccggaggaaacaccta
ggctgtgcagtatatcaggacatgatctatgctgtaggaggtagagatgacactacagag
ctgagcagtgctgagagatacaaccccagaaccaaccagtggtctccagtggtggccatg
acatcacgccgtagtggagttggcctggcagtggtcaatggacagctcatggcagtagga
ggttttgatggcacaacatacttgaagaccatagaagtttttgatcctgatgccaataca
tggaggttatatggcgggatgaattaccgtcggctagggggtggcgtaggagttattaaa
atgacacattgtgaatcccatatttggtga
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