KEGG   Homo sapiens (human): 51362
Entry
51362             CDS       T01001                                 
Symbol
CDC40, EHB3, PCH15, PRP17, PRPF17
Name
(RefSeq) cell division cycle 40
  KO
K12816  pre-mRNA-processing factor 17
Organism
hsa  Homo sapiens (human)
Pathway
hsa03040  Spliceosome
Disease
H00897  Pontocerebellar hypoplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09121 Transcription
   03040 Spliceosome
    51362 (CDC40)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    51362 (CDC40)
Spliceosome [BR:hsa03041]
 Complex C
  Other components
   Step II factors
    51362 (CDC40)
SSDB
Motif
Pfam: WD40 WD40_Prp19 EIF3I WDR55 WD40_WDHD1_1st WD40_CDC20-Fz Beta-prop_EML_2 Beta-prop_TEP1_2nd Beta-prop_WDR90_POC16_2nd WD40_MABP1-WDR62_2nd Beta-prop_EML Beta-prop_CAF1B_HIR1 Beta-prop_EIPR1 Beta-prop_WDR75_1st Beta-prop_TEP1_C WD40_RFWD3 Beta-prop_RIG_2nd ANAPC4_WD40 Beta-prop_DCAF4 WD40_MABP1-WDR62_1st Beta-prop_SPT8 Beta-prop_IFT122_1st WDR90_beta-prop_4th Beta-prop_NWD2_C WD_LRWD1 WDR54 Beta-prop_Vps41
Other DBs
NCBI-GeneID: 51362
NCBI-ProteinID: NP_056975
OMIM: 605585
HGNC: 17350
Ensembl: ENSG00000168438
UniProt: O60508
Structure
LinkDB
Position
6:110180427..110232232
AA seq 579 aa
MSAAIAALAASYGSGSGSESDSDSESSRCPLPAADSLMHLTKSPSSKPSLAVAVDSAPEV
AVKEDLETGVHLDPAVKEVQYNPTYETMFAPEFGPENPFRTQQMAAPRNMLSGYAEPAHI
NDFMFEQQRRTFATYGYALDPSLDNHQVSAKYIGSVEEAEKNQGLTVFETGQKKTEKRKK
FKENDASNIDGFLGPWAKYVDEKDVAKPSEEEQKELDEITAKRQKKGKQEEEKPGEEKTI
LHVKEMYDYQGRSYLHIPQDVGVNLRSTMPPEKCYLPKKQIHVWSGHTKGVSAVRLFPLS
GHLLLSCSMDCKIKLWEVYGERRCLRTFIGHSKAVRDICFNTAGTQFLSAAYDRYLKLWD
TETGQCISRFTNRKVPYCVKFNPDEDKQNLFVAGMSDKKIVQWDIRSGEIVQEYDRHLGA
VNTIVFVDENRRFVSTSDDKSLRVWEWDIPVDFKYIAEPSMHSMPAVTLSPNGKWLACQS
MDNQILIFGAQNRFRLNKKKIFKGHMVAGYACQVDFSPDMSYVISGDGNGKLNIWDWKTT
KLYSRFKAHDKVCIGAVWHPHETSKVITCGWDGLIKLWD
NT seq 1740 nt   +upstreamnt  +downstreamnt
atgtcggctgcgattgcagctctggccgcttcctatggttcgggttcagggtccgaatcg
gactcggacagtgagagcagtcggtgtccgctgccagccgccgactccctcatgcacttg
actaaatcgccttcatcaaagccgtctctagcagtggcagtggactcggctccggaggtg
gcagttaaggaagatttggagactggagttcaccttgaccctgccgtcaaagaagttcag
tataatcctacctatgagaccatgtttgctcctgagtttggaccagaaaatccctttagg
acacagcaaatggctgcccctagaaatatgctttctggatatgccgaaccagctcatatc
aatgatttcatgtttgagcagcaaaggagaacttttgcaacatatggttatgcattagac
ccttcattagataatcatcaagtgtctgctaaatatattggttctgtagaagaagctgaa
aaaaatcaaggtttaactgtatttgaaactggtcagaagaaaacagaaaagaggaaaaag
tttaaagaaaatgatgcatccaatattgatggttttttgggaccatgggcaaaatatgtg
gatgaaaaagatgtagccaaaccttcagaagaagagcaaaaagaattggatgaaatcaca
gcaaagaggcagaaaaaaggaaaacaggaagaagagaaacctggggaggagaagacaatc
ttacatgttaaagaaatgtatgactatcaaggcaggtcctatcttcacatacctcaggat
gttggtgttaatctacggtcaactatgccacctgagaagtgttatcttcccaaaaaacaa
attcatgtgtggtctggacacacaaagggcgtcagtgcagtcagattgtttcctctctct
ggccatttattgctgtcttgttccatggactgtaaaattaagctatgggaggtttatgga
gaacggcgctgtctgagaacatttattggtcacagtaaggctgttagggatatctgcttc
aatactgcaggaacacagttcctcagtgcagcctatgacaggtatcttaagctctgggac
actgagacaggacagtgtatatcaagatttacaaaccgaaaagtaccttattgtgtcaaa
ttcaatcctgatgaagataagcaaaatctctttgtggctgggatgtctgataagaagatt
gtgcaatgggacattcgaagtggagaaattgtgcaggaatatgatcggcatttgggagct
gtcaacaccattgtttttgtggatgagaataggagatttgtgagcacatctgatgataaa
agcctaagagtttgggaatgggatatccctgtggatttcaagtacatagcagaacccagt
atgcactcaatgcctgcagtgactttgtctccaaatggaaaatggctagcatgccaatca
atggacaaccaaatcttaatttttggagcacagaacagatttagattaaataagaaaaaa
atttttaagggccatatggtagcaggctatgcttgtcaggtggacttttcaccagacatg
agttatgtgatttcaggagatggaaatggaaaattaaacatttgggactggaagaccaca
aaactctacagtcgatttaaagctcatgataaagtgtgtataggtgcagtgtggcatcct
catgaaacttctaaggtcataacatgtggttgggatggtctcattaaattgtgggattaa

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