KEGG   Homo sapiens (human): 153241
Entry
153241            CDS       T01001                                 
Symbol
CEP120, CCDC100, JBTS31, SRTD13
Name
(RefSeq) centrosomal protein 120
  KO
K16459  centrosomal protein CEP120
Organism
hsa  Homo sapiens (human)
Disease
H00530  Joubert syndrome
H02157  Short-rib thoracic dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    153241 (CEP120)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Centriole proteins
    153241 (CEP120)
SSDB
Motif
Pfam: DUF3668 C2
Other DBs
NCBI-GeneID: 153241
NCBI-ProteinID: NP_694955
OMIM: 613446
HGNC: 26690
Ensembl: ENSG00000168944
Pharos: Q8N960(Tbio)
UniProt: Q8N960 B4DLH5
Structure
Position
5:complement(123344892..123423842)
AA seq 986 aa
MVSKSDQLLIVVSILEGRHFPKRPKHMLVVEAKFDGEQLATDPVDHTDQPEFATELAWEI
DRKALHQHRLQRTPIKLQCFALDPVTSAKETIGYIVLDLRTAQETKQAPKWYQLLSNKYT
KFKSEIQISIALETDTKPPVDSFKAKGAPPRDGKVPAILAGLDPRDIVAVLNEEGGYHQI
GPAEYCTDSFIMSVTIAFATQLEQLIPCTMKLPERQPEFFFYYSLLGNDVTNEPFNDLIN
PNFEPERASVRIRSSVEILRVYLALQSKLQIHLCCGDQSLGSTEIPLTGLLKKGSTEINQ
HPVTVEGAFTLDPPNRAKQKLAPIPVELAPTVGVSVALQREGIDSQSLIELKTQNEHEPE
HSKKKVLTPIKEKTLTGPKSPTVSPVPSHNQSPPTKDDATESEVESLQYDKDTKPNPKAS
SSVPASLAQLVTTSNASEVASGQKIAVPATSHHFCFSIDLRSIHALEIGFPINCILRYSY
PFFGSAAPIMTNPPVEVRKNMEVFLPQSYCAFDFATMPHQLQDTFLRIPLLVELWHKDKM
SKDLLLGIARIQLSNILSSEKTRFLGSNGEQCWRQTYSESVPVIAAQGSNNRIADLSYTV
TLEDYGLVKMREIFISDSSQGVSAVQQKPSSLPPAPCPSEIQTEPRETLEYKAALELEMW
KEMQEDIFENQLKQKELAHMQALAEEWKKRDRERESLVKKKVAEYTILEGKLQKTLIDLE
KREQQLASVESELQREKKELQSERQRNLQELQDSIRRAKEDCIHQVELERLKIKQLEEDK
HRLQQQLNDAENKYKILEKEFQQFKDQQNNKPEIRLQSEINLLTLEKVELERKLESATKS
KLHYKQQWGRALKELARLKQREQESQMARLKKQQEELEQMRLRYLAAEEKDTVKTERQEL
LDIRNELNRLRQQEQKQYQDSTEIASGKKDGPHGSVLEEGLDDYLTRLIEERDTLMRTGV
YNHEDRIISELDRQIREILAKSNASN
NT seq 2961 nt   +upstreamnt  +downstreamnt
atggtctccaaatccgaccaattgctcatcgtcgtgtccatcctagaaggtcggcatttc
cccaaacgtccaaagcatatgcttgtagtggaagcaaagtttgatggagaacagttggct
actgatcctgtggaccacactgaccagccagaatttgctactgagttagcttgggaaatt
gacaggaaagcgcttcatcagcacaggctacagcgtactcctatcaaactccaatgtttt
gccttggatcctgtaacttcagccaaggaaaccataggttacatcgttctggatttaaga
accgctcaagaaacaaagcaggcaccaaaatggtaccagttgctgagtaataaatacacc
aaattcaagtctgagatacagataagtattgctttggaaaccgatacaaagccaccagtg
gatagctttaaagcaaagggggctccccctcgagatggaaaagtacctgccatcctggct
ggacttgaccccagggacattgtggctgtgctgaatgaagagggaggctaccatcagatt
ggaccagcagaatactgtactgactcctttattatgtcagtgaccatagcatttgctacc
cagttggaacagttaattccatgtaccatgaaacttccagaaagacagcctgagtttttc
ttttactactctttactgggaaatgatgttacaaatgaacccttcaatgatttaatcaac
ccaaactttgagccagagagagcatcagttcgcatccgtagcagtgtagaaattcttcgt
gtttacctggctcttcagtctaaactgcagattcacctctgctgtggagaccagtcactt
ggaagtacagaaatacctttaactggattacttaaaaagggcagtacagaaatcaaccag
cacccagtcacagtcgaaggtgcttttacccttgaccctccaaacagagccaaacagaag
cttgcacctattcctgtggagctagccccaactgtgggagtgtctgtggctctgcagaga
gaaggcatagactcccagtctttaattgaattaaagacccagaatgaacatgagccagag
cattcaaagaagaaagttttaacccccataaaggagaagacacttactgggccaaaatca
ccaacagtgtcccctgttccatctcacaaccagtcacctccaacaaaagatgatgcaaca
gaaagtgaagtggaaagtttacagtatgataaggacaccaaaccaaatccaaaagccagt
tcttctgtacctgcttcactggcccagctagtgactacatccaatgcttcagaagtagct
tcaggacagaagattgctgtaccagcaacatcacatcatttttgcttttcaatagactta
aggagtatacatgccttggagattggttttccaatcaactgtatattaaggtactcatat
ccattctttggaagtgcagctcctattatgactaatcctcctgtagaagttcggaaaaac
atggaagtttttcttccccagtcttactgtgcatttgattttgcaactatgcctcatcag
ctgcaagacaccttcttaaggattccattactggttgaactatggcacaaggataaaatg
agtaaagatttacttctgggaattgcgagaatccagctttctaacatcttgtcttcagaa
aaaactcgttttttaggttctaatggtgaacagtgttggcgtcaaacttacagtgaaagt
gtgcctgttatagcagcacaaggatcaaataacaggatagcagatctttcttacacagtg
actctagaagattatggactagtaaaaatgcgtgagatttttatctctgattcatctcag
ggtgtatctgccgtacagcaaaagccgtcttctcttcctccagcaccttgtccttcagag
atccagacagagcctcgtgaaacgttagaatacaaagcagcacttgagctagaaatgtgg
aaggagatgcaagaagatatatttgaaaatcagctgaagcagaaagaactggctcatatg
caggctcttgcagaggaatggaagaaaagggaccgagaaagagaatcactagtaaagaaa
aaggtggctgaatatactattctagaaggaaaacttcaaaaaactctaattgacttggag
aagcgagagcagcagcttgctagtgtggaatcagagcttcaaagagaaaaaaaggaactg
caatcagaacgtcagcggaacctgcaagaactgcaggactctatccgtagggccaaagag
gactgtattcaccaagtagaactagaaaggttaaaaatcaaacagctcgaagaggataaa
caccgccttcagcaacagcttaatgatgctgaaaataagtataagattttggaaaaagag
ttccaacagttcaaggaccagcaaaacaacaaaccagaaatccgtctacagtctgaaata
aatcttctcaccttggaaaaggttgaacttgaaagaaagttggaatctgcaactaagtct
aaactgcattacaagcagcagtggggacgagctttgaaagaacttgccagacttaaacag
agggagcaagaaagtcaaatggctcgtcttaaaaaacagcaggaagaattggaacagatg
agactacgttaccttgccgctgaggaaaaagatacagtaaaaaccgagcgacaagaattg
ttggatataagaaatgaattgaacaggttaaggcaacaagagcaaaaacaataccaggat
tccacagagattgcaagtggaaaaaaggatggcccccatggcagtgtattggaagaaggt
ttggatgattatttgactcgcctgatagaagaaagggatactttgatgagaacgggtgtg
tataatcacgaggatcgaataataagtgaactcgaccgacagatcagagagattttggca
aaaagcaatgccagtaattaa

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