KEGG   Homo sapiens (human): 85459
Entry
85459             CDS       T01001                                 
Symbol
CEP295, KIAA1731
Name
(RefSeq) centrosomal protein 295
  KO
K26251  centrosomal protein CEP295
Organism
hsa  Homo sapiens (human)
Disease
H00992  Seckel syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    85459 (CEP295)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Centrosome duplication proteins
    Other centrosome duplication proteins
     85459 (CEP295)
SSDB
Motif
Pfam: ALMS_motif
Other DBs
NCBI-GeneID: 85459
NCBI-ProteinID: NP_203753
OMIM: 617728
HGNC: 29366
Ensembl: ENSG00000166004
UniProt: Q9C0D2
LinkDB
Position
11:93661682..93730358
AA seq 2601 aa
MKRKVVNTHKLRLSPNEEAFILKEDYERRRKLRLLQVREQERDIALQIREDIKQRRNQQF
TRLAEELRAEWEESQTQKIQNLEKLYLASLRSMGEGHRQAKENEPDLDALAQRAAERKRK
ADLRHKEALKVQKNQKEILLKQKTWHIKARKEALLVEKERSAKITSLPPPPPTLFENIEV
KRISAVKTNSSTYHHLHTFVNRETDTKRPDARLAAEEEAKRLEELQKQAAQERMERFEKA
HVRGFQAMKKIHLAQNQEKLMKELKQLQQEDLARRRQTVAQMPPQLVELPYKRSEMKEDW
QRELEFAFEDMYNADRKVKGNLILHLEPEPLPTVTNQIQDEELDLSMEQENLGAAEDLPV
TEAEICSSETDVPLVMKTQQIPSKVLFKKLLNKIRSQKSLWTIKSMSEDESEMITTVSEI
ESKAPTVESGTIASKERTLSSGQEQVVESDTLTIESGPLASEDKPLSCGTNSGKEQEINE
TLPITTVAQSSVLLHPQEAAARIRMSARQKQIMEIEEQKQKQLELLEQIEQQKLRLETDC
FRAQLEEEKRKKTQPTGVGIAPASCPVISDEDSHRQMIRNYQHQLLQQNRLHRQSVETAR
KQLLEYQTMLKGRCPSVSAPSLITDSVISVPSWKSERPTAISEHWDQGQRLKLSPNKYQP
IQPIQTSKLEQDHFQVARQNHFPQRQVETTETLRASDILTNQALESQEHLRQFSQTETQQ
RDYKLVPKDSETLSRALSHDRQLISQDARKISETFGATTFQSLESQQLFSENSENISYHL
TEPSSFVPLVPQHSFSSLPVKVESGKIQEPFSAMSKSTVSTSHSIISQMHDRPLLPSENI
TAQQGNMKALQEQLDLQKKVLQATQEAQEQLLLCKQKEVEQQTGLSVFLPLVTPDSSALL
PSAKADLGRIQESSPTKNNIAVSSDHHVISQLQDKRLSLSQPILSQQNNFKFLQEQLNIQ
KDSLQARREAQEVLYVHKQSELDRRVCSEQAEPSFPFQVAQHTFTSLPSADTKSGKIQEQ
HSSKSEKGLVSCQSDIPISQDGSLSFLQQFLPLHDSLKLLQEQLTKQRDTLQARHEAQVE
LLLHRQRDLGDSKSGLVSSSSSPVVVQHSVASQASAKAEPRRIQELYLSEKENVGPSCHL
IIPTFQDKSLSFPQHSLAQQENLTILQEQSQIQRVILGAKEGTQEFVHTESELEKRISSE
QTGTSSSLSQVDESERFQECISIKSDSTIPLSHPKIPRCQERLLRVSQHMLPLQDNLEEH
QAWLDTEKEAFHFSQKTQENTSSEQTGSSSFIPQLVQLSFTSLASAESGTILEPLFTESE
SKIFSSHLQIPQLQDRLLRISQLIQPQQDNLKALQEQLATQREAIILARQEAREELLLHQ
SEWEGRISPEQVDTSSLPLVPQHSFASLPLNESERNQEPCSINSDNIVSSGHSEIPTLPD
GLLGLSHLVLPQQDNLIALEEHLHAQTDFLPSIEKTQKELVLSKPCKFEEKVSSEHFIQS
HHGDLQALQQQLDTQKKAIRSIQEVQEELLLQRLSELEKRVSSEQVCSSSFVSQVPVADS
ERTQKSFPTKSNDTLPSSHREIPRLQDRLLSLSKPILPQQDNMTAQLDAQREVMYSYEKP
QEELSLNKQRKLNKSESAEHTIPSLFLPKETEHSFIPLPFAEAKPKSTCELYSSQNEHAA
PPSNPVIPGFQDRLLSFSQSVLTQQDNLGLQKQLDLQREVLHYSQKAQEKLLVQRQTALQ
QQIQKHEETLKDFFKDSQISKPTVENDLKTQKMGQLRDWFPNTQDLAGNDQENIRHADRN
NSDDNHLASEDTSAKQSGEHLEKDLGRRSSKPPVAKVKCGLDLNQHELSAIQEVESPAIG
RTSILGKPGIYEDRDPLRVSISREQSFFGSPLAHDPFSCLQLVGQENVCGDDYDEAVKLK
ESVVENHAVLSYAVEEEHAYLGPTVKPDDKAKTLSYEPLSSATVSTGSLLSYENTDLSLT
DPESFSEHMDDSKQESTTSKEEETNIISSIVPSTQDIYQRQNSSDVHKSLLPAVDETTCG
HTHFQQMIDKYINEANLIPEKTDLQELEHIFPNLHHQLFKPLEPHPDFDLSSSSSGISPD
NRDFYQRSDSSSESHCATGLSKSTVYFTALRRTSMHSSLNTSPNQQPDTNLAHVGAHSFA
TENIIGGSEQCFEQLQPEYSSQEESQHADLPSIFSIEARDSSQGMKNQNYPSEEHTEILQ
NKKKIVHFQLSIGNLSSVYSSSDEANVFDQLNVQHSTPCGSNSSECSTKHQLESRKESMG
FEELSKRGVVTMLQSQGLIEDNKNETCRVLDINPQVEETDSRLCVRTVEMGTSIQAPYSL
TTQNEKYFENSAETDIPKITKKLSQLGESELFASSGSFSLQSSIPVWETETGHGIMEEPE
LTLISTTDTSIAEMDFANLTLEEKSENEAKCFFQVSEFLPLVSATEASDYPAVSELSIEK
PRTASTETPRRLTPVPGSLQEAFIKRKKSFMERSHQRQKEIRNKIHVSENSQIKTVKEKP
SISSSVSRLKGVNKVRASFPEDRKTTQALRHQRGLRLYNQLAEVKQQKEEKTKQEAYAQN
RARAKEFHKKTLEKLRAKNTC
NT seq 7806 nt   +upstreamnt  +downstreamnt
atgaagagaaaagtcgtgaatactcacaagctgagattgagtcctaatgaggaagccttc
attttgaaggaagattatgaaagaaggcgaaaactaagattgctacaggttcgagaacaa
gaaagagatatcgccttacagataagagaagacataaaacagaggagaaatcaacaattt
acacgtttggcagaggagctaagggcagaatgggaagaatcacaaactcagaaaatacag
aacttggaaaaactgtatttggcaagtttaagaagtatgggagagggacatcgacaggcc
aaagaaaatgaacctgatttggatgctttggcacagcgggcagcagaaaggaaaagaaaa
gcagatttgaggcataaagaagccttgaaagtacagaaaaatcaaaaagaaatattactg
aaacaaaaaacctggcatataaaagctcgaaaggaagcactgcttgtggaaaaagagaga
tcagccaaaattacaagtctgccacctcctcctccaactctttttgagaacatcgaagta
aaaagaatttctgcagtcaaaaccaatagttctacctaccatcatcttcacacttttgtg
aatagagagacagacacaaaacggccagatgctcgtttggctgctgaagaggaagctaaa
cgattggaagaactacaaaaacaggcagcacaagagagaatggaacggtttgaaaaggca
catgtacggggattccaagcaatgaagaagatccatttggctcaaaatcaggagaaacta
atgaaagaactcaaacagctacagcaagaggacctggcacgtaggagacagactgtagca
caaatgccaccacaactagttgaacttccatacaaacgcagtgaaatgaaagaagactgg
cagagagaattggaatttgcctttgaagatatgtacaatgcagacaggaaggtgaaaggg
aatctgattctgcaccttgaaccagagcccttgcccactgtgactaatcagatccaagat
gaagagctggacctttcaatggaacaagaaaatttgggtgcagctgaagaccttccagtg
acagaagctgaaatatgttctagtgaaacagatgttcccttggtaatgaagacccaacag
attccttcaaaagttctttttaaaaaattattaaataagatccgaagccaaaaatctctc
tggacaattaaatctatgtctgaggatgaaagtgaaatgattacgactgttagtgaaatt
gagagtaaagcaccaacggttgagtcaggaacaattgccagcaaagagagaacgttatcc
tctgggcaggaacaagttgttgaaagtgatacactaacaattgagtctggaccacttgct
agtgaagataaaccactttcgtgtggtacaaactctggaaaagaacaagaaataaatgag
actctgcctatcacaactgtagctcagagttcagttctacttcatcctcaagaagcagca
gccaggattagaatgtcagcaaggcagaaacagataatggaaatagaagagcagaagcaa
aagcaattggaattacttgaacaaattgaacagcagaaattaagattagaaactgactgc
ttcagggctcagctggaagaagaaaaaagaaaaaaaactcaaccgactggggttggcatt
gctccagcatcatgccctgtaatttctgatgaagatagtcataggcagatgattcgtaac
tatcaacatcagcttttacaacaaaacaggttacacaggcagtctgttgaaacagccagg
aaacaattacttgaatatcaaactatgttaaaaggaaggtgcccatcggtgtcagctcca
tcattgataactgattctgttatatcagtgccatcatggaaatctgagagaccgactgct
atatcagagcattgggatcaaggtcagagactcaagttgagtcctaacaaataccaaccc
atacaacctatacagacctccaaattagaacaagatcattttcaggtagcgagacaaaat
cactttccacaaagacaggtggaaacaacagaaacattacgcgcttcagatattttaacc
aatcaagctttagaatcacaagaacatctaaggcaattctctcagactgaaacacaacag
agagactataaattggtccccaaagattctgagacactttcaagggctttgtcacatgac
aggcagctaatatcacaggatgctagaaaaatatctgaaacatttggggcaacaactttt
caaagtttagaatcccaacaattgttctcagagaatagtgaaaatatatcttaccattta
actgaaccttcttcatttgtaccactggtacctcagcattcttttagttctctgcctgtt
aaagttgagtcaggaaaaattcaagaacccttttcagccatgagcaaaagtacagtttcc
acaagccattctataatcagccaaatgcatgataggcctttgctgccgtcagagaatatc
acagcccagcaaggtaatatgaaggccctccaagaacagttagacctacagaagaaagtt
cttcaggcaactcaggaagctcaggaacagttgcttttgtgcaaacagaaagaagtggaa
cagcaaacgggcctctcggtattccttcccttggtaactccagattcatctgctttattg
ccttctgccaaagcagatttggggagaatccaggaatcttcaccaaccaagaataatatt
gcagtttcctcagaccatcatgtgatctcacaacttcaggataagcgtttgagtctttca
cagcctatcctatcacagcaaaataattttaaatttctccaagagcagttgaatattcag
aaggatagccttcaggctaggcgagaagcccaggaagtattgtatgtacataaacagagt
gaattggatagaagagtatgttccgaacaggctgagccctctttcccatttcaggtagct
cagcatacatttacttcactaccatctgctgatacaaaatctggaaaaatacaggagcaa
cattcatctaagagcgagaaaggacttgtttcatgccaatctgacatccccatatctcag
gatgggtctttgagtttcctacagcagttcctacctctacatgatagtttgaagttgctc
caagaacagttgactaaacagagggatactcttcaggctaggcatgaagctcaggtggaa
ttacttttacatagacaaagagatttgggggacagtaagtctgggctggtgagctcttca
tcctcaccagtggttgttcagcattcagttgcttcacaagcttctgctaaagctgagcct
aggagaattcaggagctttatttatctgagaaggagaatgtaggtccctcctgtcatttg
ataatcccaacatttcaggataagtctcttagttttccacagcatagcctggcacagcaa
gaaaatttgacaatactccaagaacagtcacaaatacaaagggtaatacttggtgctaaa
gaaggaactcaggaatttgtacacacagaaagtgaattggagaaaagaatttcttctgaa
cagactggcacctcctcatccctttcccaggtggatgaatctgagagattccaggaatgt
atatcaatcaagagtgacagtaccattcccttaagccatcctaagatcccaagatgtcag
gaaagacttttgagagtttcacaacatatgctacctctacaagataatttggaggaacac
caagcatggctagacactgagaaagaagcctttcatttcagccagaaaacccaagaaaat
acatcttctgaacaaactggttcatcttcattcataccccagttggtacagctttcattt
acttcgttagcttcagctgagtctggcacaatcctggaacctctttttacagagagtgaa
agtaaaattttttcaagccaccttcagatcccacaattgcaggataggcttttgaggata
tcgcaacttatccagcctcaacaagataatttgaaggcacttcaagaacagttagctaca
cagagagaagccatcattctagctagacaagaagctcgggaagaattacttttacatcag
agtgaatgggagggaagaatatctcccgagcaggttgacacctcttccttacccctagta
ccacagcattcattcgcctcattacctcttaatgaatctgaaagaaaccaagaaccatgt
tcaattaacagtgataatatagtatcctcaggtcactcagagataccaacattgcctgat
gggctgttgggtttatcacatcttgttttacctcaacaagataatttgattgcacttgaa
gaacacttgcatgcacagacagatttccttccttctattgagaaaacccagaaagaattg
gttttgtcaaaaccatgtaaatttgaggaaaaggtatcttctgagcattttatccagtct
caccatggtgatttgcaggcacttcaacagcagttagatacacagaagaaagccattcga
tctatacaggaagtccaagaagaattgcttttgcaaagattaagtgaattggagaaaagg
gtatcatctgaacaagtttgctcctcttcatttgtatcccaggtgcctgttgctgactct
gaaagaacccagaagtctttcccaaccaaaagtaatgatactcttccctcaagtcatcgt
gagattccaagattacaggatagacttttgagtttatcaaagcctattctgcctcagcaa
gataatatgacagcacaattggatgcacaaagggaagtgatgtattcttatgagaaaccc
caggaagaactgtctttaaacaaacaaagaaagttgaacaaaagtgaatctgctgagcat
actatcccctctttgtttctacccaaggaaacagagcattcgtttattccactacctttt
gcagaagctaaacctaaaagcacttgtgaattgtattcatcccagaatgaacatgcagcc
cccccaagtaatcctgtgatcccagggtttcaagatagacttttgagtttttcacagtct
gtcttaactcagcaagataacttgggacttcagaaacagttggatctacaaagagaagtt
ctgcattatagccagaaagcccaggaaaaattgcttgtacagagacaaacagcattgcag
cagcagatacagaaacatgaagagactttgaaggatttctttaaagacagtcagataagt
aagcccacagttgaaaatgatttaaaaacccagaagatggggcagctcagagactggttt
cctaatacacaagacctagcaggaaatgatcaagaaaatattaggcatgcagataggaac
aactctgatgataatcatttggcttcagaagatactagtgccaagcaaagtggtgagcat
ctggagaaagatctggggagaagatcctcaaagccacctgtagcaaaagtcaaatgtggt
ttggacttaaaccagcatgaacttagtgctatacaagaagtagagtcaccagcaattggc
agaacttctatactaggtaaaccaggtatttatgaagacagagaccccctgcgagtctca
ataagccgagaacaaagtttctttgggagcccactggcccatgatccgtttagttgtctt
caactggttggccaagagaatgtctgtggtgatgactatgatgaagcagttaagctgaag
gaatctgttgttgaaaatcatgcagtgttaagttatgctgtggaggaagaacatgcatat
ttgggtccaactgtgaagccagatgataaggctaaaacactgtcttatgaaccattatct
tcagcaactgtttccactgggagccttttaagttatgaaaacacagatttgagccttaca
gatccagagtcattttcagagcacatggatgatagcaagcaagaatctaccaccagtaaa
gaagaggaaacaaatattataagttccatagttccttcaacacaagatatttatcagcgg
cagaactcttcagacgttcataaatctctgttgcctgcagtggatgaaactacatgtggt
cacacacactttcagcaaatgatagacaagtacattaatgaagcaaatttgatacctgaa
aaaacagatttgcaagaattggaacacatttttcctaatttgcatcatcagctgtttaaa
cccttagaaccacatccagattttgacttatcatcatcatcctctgggatttctccagac
aacagagacttttaccagagatcagattcttcatctgaaagccactgtgctactggatta
tccaaaagtacagtttatttcacagcactgaggaggaccagcatgcattcttctcttaac
acaagtccgaatcaacaacctgacactaacttggctcatgttggagctcacagttttgct
acagaaaatattattgggggatctgaacaatgttttgaacagcttcagccagaatattct
tcacaggaggagagccagcatgctgatctaccaagtatttttagcattgaagcaagagat
tcttcccaaggcatgaaaaatcagaactatccctctgaagaacatactgaaatattacaa
aacaagaaaaaaattgttcatttccagctttctataggaaacttaagttcagtctacagt
tcatctgatgaagctaatgtatttgatcagttaaatgtacagcatagcactccatgtggt
tctaactctagtgagtgctcaacaaaacaccaactagaaagcagaaaggaaagtatgggc
tttgaagaactatcaaaaagaggggttgttacaatgttacaaagtcaaggactcattgaa
gataataaaaatgaaacctgtagggttttagacataaatccacaggtagaggaaactgac
tctcgattatgtgtaagaacagtggagatgggaacttcaattcaggcaccatattcctta
actactcaaaatgaaaaatattttgagaattcagctgaaacagacattccaaaaatcacc
aaaaaactatctcaactaggagaatcagagctttttgcaagttctggatcattttcatta
cagagctctataccagtctgggaaacagaaactggccatggtataatggaagaaccagaa
cttactttaataagcaccactgataccagtattgctgaaatggattttgcaaatttaacc
ctagaagagaagagcgagaatgaagcaaaatgcttctttcaggtgagtgagtttctgcct
cttgtatcagcaacagaagcctcagattatccagctgtatcagaactttccatagaaaaa
ccaaggacagcatctacagaaacccctcgcaggcttacacctgtaccagggagcttacaa
gaagcatttataaagaggaaaaaatcatttatggagagatcccaccagaggcagaaagaa
ataaggaataaaattcatgtctctgaaaattctcaaatcaaaacagttaaagagaaacca
tctataagttcatctgtgagtcgtctaaagggcgtgaataaagtcagagcatcttttcct
gaagacagaaagactacacaggctctaaggcaccaaaggggtctaaggttatacaatcaa
ctagctgaagtgaaacaacaaaaggaagaaaaaacaaaacaagaagcttatgcccaaaac
agagcaagggcaaaagaattccataagaaaacactagagaaacttcgagccaaaaataca
tgctga

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