KEGG   Homo sapiens (human): 152137
Entry
152137            CDS       T01001                                 
Symbol
CCDC50, C3orf6, DFNA44, YMER
Name
(RefSeq) coiled-coil domain containing 50
  KO
K25949  coiled-coil domain-containing protein 50
Organism
hsa  Homo sapiens (human)
Disease
H00604  Deafness, autosomal dominant
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    152137 (CCDC50)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Other autophagy associated proteins
   Others
    152137 (CCDC50)
SSDB
Motif
Pfam: CCDC50_N DUF1462
Other DBs
NCBI-GeneID: 152137
NCBI-ProteinID: NP_777568
OMIM: 611051
HGNC: 18111
Ensembl: ENSG00000152492
UniProt: Q8IVM0
Structure
LinkDB
Position
3:191329394..191398659
AA seq 306 aa
MAEVSIDQSKLPGVKEVCRDFAVLEDHTLAHSLQEQEIEHHLASNVQRNRLVQHDLQVAK
QLQEEDLKAQAQLQKRYKDLEQQDCEIAQEIQEKLAIEAERRRIQEKKDEDIARLLQEKE
LQEEKKRKKHFPEFPATRAYADSYYYEDGGMKPRVMKEAVSTPSRMAHRDQEWYDAEIAR
KLQEEELLATQVDMRAAQVAQDEEIARLLMAEEKKAYKKAKEREKSSLDKRKQDPEWKPK
TAKAANSKSKESDEPHHSKNERPARPPPPIMTDGEDADYTHFTNQQSSTRHFSKSESSHK
GFHYKH
NT seq 921 nt   +upstreamnt  +downstreamnt
atggctgaagtcagcatcgaccagtccaagctgcctggagtcaaggaagtatgccgagat
tttgctgtcctggaggaccacaccctggctcacagcctgcaggaacaagagattgagcat
catttggcatcgaacgttcagcggaaccgtttggtccagcatgatctccaggtggctaag
cagctccaagaggaagatctgaaagcgcaggcccagctccagaagcgctacaaagacctt
gaacaacaagactgtgaaattgctcaggaaattcaggagaagctggctattgaggcagag
agacgacgcattcaggagaagaaggatgaggacatagctcgccttttgcaagaaaaggag
ttacaggaagagaaaaagagaaagaaacactttccagagttccctgcaacccgtgcttat
gcagatagttactattatgaagatggaggaatgaagccaagagtgatgaaagaagctgta
tctactccatcacgaatggcccacagggatcaggaatggtatgatgctgaaattgccaga
aaactgcaagaagaagaacttttggctacccaggtggacatgagagccgctcaagtagct
caagatgaagaaatcgctcgacttctaatggctgaagaaaagaaagcttacaaaaaagcc
aaggagcgggagaaatcatctttggacaaaagaaagcaagaccccgagtggaagccaaaa
acagctaaagcagcaaattccaagtcaaaagagagtgatgaacctcaccattctaagaat
gaaaggccagcacggccaccaccacctatcatgacagatggtgaagatgcggattacact
cattttacaaaccagcagagttccacacggcatttctcaaaatcagagtcctctcataaa
ggttttcattacaaacattaa

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