KEGG   Homo sapiens (human): 390594Help
Entry
390594            CDS       T01001                                 

Gene name
KBTBD13, HCG1645727, NEM6
Definition
(RefSeq) kelch repeat and BTB domain containing 13
  KO
K21913  kelch repeat and BTB domain-containing protein 13
Organism
hsa  Homo sapiens (human)
Disease
H00698  Nemaline myopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    390594 (KBTBD13)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Multi subunit Ring-finger type E3
   Cul3 complex
    Adoptor and target recognizing subunit (BTB)
     390594 (KBTBD13)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Kelch_1 Kelch_6 Kelch_2 Kelch_3 BTB Kelch_4
Motif
Other DBs
NCBI-GeneID: 390594
NCBI-ProteinID: NP_001094832
OMIM: 613727
HGNC: 37227
Ensembl: ENSG00000234438
Vega: OTTHUMG00000172424
Pharos: C9JR72(Tdark)
UniProt: C9JR72
Position
15q22.31
AA seq 458 aa AA seqDB search
MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETRAAEVRLGVLSAGGFRA
TLQVLRGDRPALAAEDELLQAVECAAFLQAPALARFLEHNLTSDNCALLCDAAAAFGLRD
VFHSAALFICDGERELAAELALPEARAYVAALRPSSYAAVSTHTPAPGFLEDASRTLCYL
DEEEDAWRTLAALPLEASTLLAGVATLGNKLYIVGGVRGASKEVVELGFCYDPDGGTWHE
FPSPHQPRYDTALAGFDGRLYAIGGEFQRTPISSVERYDPAAGCWSFVADLPQPAAGVPC
AQACGRLFVCLWRPADTTAVVEYAVRTDAWLPVAELRRPQSYGHCMVAHRDSLYVVRNGP
SDDFLHCAIDCLNLATGQWTALPGQFVNSKGALFTAVVRGDTVYTVNRMFTLLYAIEGGT
WRLLREKAGFPRPGSLQTFLLRLPPGAPGPVTSTTAEL
NT seq 1377 nt NT seq  +upstreamnt  +downstreamnt
atggcacggggtccacagaccctggtgcaggtgtgggtgggcggccagctcttccaagcc
gaccgcgccctgctggtggagcactgtggcttcttccgaggcctcttccgctccggcatg
cgggagacccgcgcagcagaggtgcgcctgggcgttctgagcgcgggaggtttccgcgcc
acgctgcaggtgctgcgcggcgaccggccggcgctggcggcggaggacgagctgctgcag
gccgtggagtgcgccgccttcctccaggcgccggcgctggctcgctttctggagcacaac
ctcacgtcggacaactgcgcattgctgtgcgacgcggccgccgccttcggcctgcgcgac
gtgttccacagtgccgcgctcttcatctgcgacggcgagcgcgagctggcggccgaactg
gcgctgcctgaggcccgcgcctacgtggcggccctgcggcccagcagctacgcggccgtg
agcacgcacacgcccgcgcccggcttcctggaggacgcctcgcgcacgctgtgttacctg
gacgaggaagaggacgcgtggcgcacgctggctgcgctgcccctggaggccagcacgttg
ctggccggggtggccacgctgggcaacaagctttacatcgtggggggcgtgcgcggcgcc
agcaaggaggtggtagagctgggcttctgctacgaccccgacggcggcacgtggcacgag
ttccccagcccgcaccagccgcgctatgacacagcgctggccggcttcgacggccgcctc
tacgccatcggcggcgaattccagaggacgcccatcagctccgtggagcgctacgaccca
gccgcgggctgctggagtttcgtggccgacctgccgcagccggccgccggcgtgccctgc
gcccaggcttgtggccgtctcttcgtgtgcctgtggcggccggccgacaccaccgccgtg
gtggagtacgcagtgcggaccgacgcgtggctgccagtggccgagctgcggcgtccgcag
agctatggccactgcatggtggcccaccgcgacagcctctatgtggtgcgcaacggacct
tccgacgacttcctgcactgcgccatcgactgtctcaacctggccacgggccagtggacg
gcgctgcccggccagttcgtcaacagcaagggagcgctcttcacggccgtggtgcgcggt
gacaccgtctatacggtcaaccgcatgttcacgctgctctacgccatcgagggcggcacc
tggcggctgctcagggagaaagccggcttcccgcggcccggctccttgcagacctttctc
ctaaggctgcctcctggcgctcctgggcctgtgacttcgacaacggcagaactgtga

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