KEGG   Homo sapiens (human): 9731
Entry
9731              CDS       T01001                                 
Symbol
CEP104, CFAP256, GlyBP, JBTS25, KIAA0562, MRT77, ROC22
Name
(RefSeq) centrosomal protein 104
  KO
K16458  centrosomal protein CEP104
Organism
hsa  Homo sapiens (human)
Disease
H00530  Joubert syndrome and related disorders
H00768  Autosomal recessive intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    9731 (CEP104)
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    9731 (CEP104)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Centriole proteins
    9731 (CEP104)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   9731 (CEP104)
SSDB
Motif
Pfam: CEP104-like_TOG CEP104_N CEP104_ZnF CLASP_N ATP-synt_E_2 UVR
Other DBs
NCBI-GeneID: 9731
NCBI-ProteinID: NP_055519
OMIM: 616690
HGNC: 24866
Ensembl: ENSG00000116198
UniProt: O60308
Structure
LinkDB
Position
1:complement(3812086..3857211)
AA seq 925 aa
MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQ
LLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDA
VGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSED
PALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAI
ADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRR
PFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVD
PLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPL
TEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRA
SVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDS
SARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGT
GSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNIL
YKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQEKE
SDAVKPKNQDIQGGKAAPAEALGIPDEHYLDNLCIFCGERSESFTEEGLDLHYWKHCLML
TRCDHCKQVVEISSLTEHLLTECDKKDGFGKCYRCSEAVFKEELPRHIKHKDCNPAKPEK
LANRCPLCHENFSPGEEAWKAHLMGPAGCTMNLRKTHILQKAPALQPGKSSAVAASGPLG
SKAGSKIPTPKGGLSKSSSRTYAKR
NT seq 2778 nt   +upstreamnt  +downstreamnt
atgccccacaagattggatttgtagtcgtcagctcatctggacacgaagacggcttcagt
gcccgggagctcatgatccacgcgccaactgtcagtgggtggcggtcacctagattttgc
cagtttccacaagaaattgtccttcaaatggtggagagatgtcgaataaggaaactgcag
ttacttgctcaccagtatatgatttcaagtaaaattgagttctacattagtgaaagcttg
cctgaatattttgcaccctatcaagcagagcggtttcgaagacttggctacgtgtctctc
tgtgataatgaaaagacaggttgcaaagcccgggaactaaaatcagtttatgtggatgca
gtaggacaatttcttaaactgatttttcaccaaaaccatgtcaacaaatacaacatatat
aatcaggttgctttggttgccataaatatcattggagaccctgcagatttcagtgatgaa
agcaatactgcctctcgagagaagttgattgaccactaccttgggcacaacagcgaggac
cctgctctagaaggaacgtacgccaggaaatctgactatatctctccgctagatgactta
gcttttgatatgtaccaagatccagaagttgcacagatcatacgaaaattagatgaaaga
aaacgggaagctgtccaaaaggaacgctatgattatgccaagaaactaaaacaagccatt
gctgatttgcaaaaggttggtgaacgccttgggaggtatgaggtagagaaacgctgtgcc
gtggagaaggaagactacgatctcgccaaggagaagaagcagcagatggagcagtatcgt
gccgaggtgtacgagcagctggagctgcacagcctcctggatgccgagctgatgcgaaga
ccttttgatttgcccctccagcccctcgctcgttctggcagtccttgccaccaaaagcca
atgccctcactaccacaactggaagaaagaggaacagaaaaccagtttgcagaacctttc
cttcaggaaaagccttcatcatattctctaactatttctcctcagcattctgcagtagac
ccgttactccctgccacagatcctcatccaaagatcaatgcagagtccctgccctacgat
gagcggcctcttccagctattcgtaagcattatggggaggcagtggtggagccggaaatg
agtaatgcagacatcagcgatgctcggaggggaggcatgttaggggagccagagccctta
accgagaaggccttgagagaagccagctctgccatcgatgtgttgggagaaaccttggtt
gctgaggcctattgtaagacgtggtcctaccgagaggatgcactgcttgccttgtctaag
aagttaatggaaatgcctgttggaaccccaaaagaagatttaaagaacacactgagagca
tccgtctttctcgttagaagagccataaaggacattgtgacctccgtttttcaggcttct
ttgaaattgttgaaaatgatcattacacaatatattcctaaacataaactgagtaaactt
gaaacagctcactgtgtggagaggaccattcccgttttgctcaccagaactggagattct
tctgcccgcctccgcgtcacagctgcaaattttattcaggaaatggccttgtttaaagaa
gttaagtctctccaaattattccatcctacctggtgcagccattgaaagcaaactcttca
gttcacctggcaatgagtcagatgggcctcctggcccggctgctgaaagacctgggcact
ggcagctcgggcttcaccattgacaacgtgatgaagttttcagtgagtgccctggagcat
agagtgtatgaggtccgcgagacggcggttcgaattattttggacatgtacagacagcac
caggcttccatcctggagtaccttcctccagacgacagcaacacacgcaggaacattctc
tacaaaacaatttttgagggatttgctaaaatagatggcagagctacagatgctgagatg
agggcacggagaaaagcggctacagaagaagcagaaaaacaaaagaaagaagaaataaaa
gctttacaagggcagctggcagcactgaaagaaattcaggctgaagttcaggaaaaagaa
agtgatgctgtgaagccaaagaatcaggacattcaaggagggaaagcagcccctgctgaa
gctctgggaatcccggatgagcactatctagataatttgtgtattttttgtggggaaagg
agtgaatccttcacagaggaaggtctggatctccactactggaagcactgtctcatgctg
acaagatgtgaccactgcaaacaggtggtcgagatatccagtctgacggagcacttgctg
acggaatgtgacaaaaaagacgggtttggaaagtgttaccgttgcagtgaggctgttttc
aaggaagagctgcccagacacataaaacacaaggattgcaaccctgccaaaccggagaag
ctggcaaaccggtgtcccctgtgtcatgagaacttcagccctggagaagaggcatggaaa
gctcacctgatgggcccagccggctgcacgatgaacctgcgcaagacacacattctgcag
aaggccccggcactgcagccagggaaaagctcagctgtggccgcatcaggccccttgggg
tcaaaggccggaagcaagatccccaccccgaagggcggactgagcaagagctccagcagg
acgtacgccaagcgctga

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