KEGG   Homo sapiens (human): 84131
Entry
84131             CDS       T01001                                 
Symbol
CEP78, C9orf81, CRDHL, IP63
Name
(RefSeq) centrosomal protein 78
  KO
K16765  centrosomal protein CEP78
Organism
hsa  Homo sapiens (human)
Disease
H02135  Cone-rod dystrophy and hearing loss
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    84131 (CEP78)
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    84131 (CEP78)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Other centriole associated proteins
    84131 (CEP78)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   84131 (CEP78)
SSDB
Motif
Pfam: LRR_6 Cortex-I_coil ATPase CdvA DUF3122 DUF6052 WD40_alt
Other DBs
NCBI-GeneID: 84131
NCBI-ProteinID: NP_001317622
OMIM: 617110
HGNC: 25740
Ensembl: ENSG00000148019
UniProt: Q5JTW2
Position
9:78236075..78279690
AA seq 689 aa
MIDSVKLRRDSAADFFSHYEYLCALQNSVPLPAVRACLREGVLDFNADRLRGVDWAPLLS
TLKINKDLPLVSIKSFFQPWLGDTGSDMNKFCRSRVPAIRYKDVTFQLCKALKGCLSISS
VLKNLELNGLILRERDLTILAKGLNKSASLVHLSLANCPIGDGGLEIICQGIKSSITLKT
VNFTGCNLTWQGADHMAKILKYQTMRRHEETWAESLRYRRPDLDCMAGLRRITLNCNTLI
GDLGACAFADSLSEDLWLRALDLQQCGLTNEGAKALLEALETNTTLVVLDIRKNPLIDHS
MMKAVIKKVLQNGRSAKSEYQWITSPSVKEPSKTAKQKRRTIILGSGHKGKATIRIGLAT
KKPVSSGRKHSLGKEYYAPAPLPPGVSGFLPWRTAERAKRHRGFPLIKTRDICNQLQQPG
FPVTVTVESPSSSEVEEVDDSSESVHEVPEKTSIEQEALQEKLEECLKQLKEERVIRLKV
DKRVSELEHENAQLRNINFSLSEALHAQSLTNMILDDEGVLGSIENSFQKFHAFLDLLKD
AGLGQLATMAGIDQSDFQLLGHPQMTSTVSNPPKEEKKALEDEKPEPKQNALGQMQNIQF
QKITGDARIPLPLDSFPVPVSTPEGLGTSSNNLGVPATEQRQESFEGFIARMCSPSPDAT
SGTGSQRKEEELSRNSRSSSEKKTKTESH
NT seq 2070 nt   +upstreamnt  +downstreamnt
atgatcgactccgtgaagctgcgccgcgacagcgcggcggacttcttctcccactacgag
tacctgtgcgcgctgcagaactcggtgccgctgcccgccgtgcgcgcctgtctccgggag
ggcgtgctggatttcaacgccgaccgcctccgcggggtggactgggcgcctctgctgagc
accctcaagatcaataaagacctgcccttggtctccatcaagagcttcttccagccctgg
ctgggggacacaggttctgacatgaataaattttgcagaagtcgtgttcctgcgataaga
tacaaagatgtgaccttccagttgtgtaaagctcttaaaggctgtttaagtatatcaagt
gtgctaaagaacctggagctaaatggactaattctgagagagagggatttaactattcta
gcaaagggattgaataaatcggcttctttggtgcacctgtctcttgcaaattgtccaatt
ggagatggaggtttagaaattatttgtcaaggtataaagagctctatcactcttaagaca
gtcaacttcacaggatgtaatctgacatggcagggagcagatcacatggccaagatctta
aagtatcagaccatgagaaggcatgaagaaacctgggctgagagtcttcgctataggaga
cctgatcttgactgtatggctggcttaagacgtatcacactgaattgcaacacacttatt
ggtgacctaggtgcatgtgcttttgcagactctctcagtgaggatttatggctgagagct
cttgacctgcaacagtgcggcctcaccaatgaaggagcaaaggctttgctagaggccctt
gaaaccaatacaactctggtcgttctggatataagaaaaaatccactcattgatcattct
atgatgaaagcagttatcaaaaaagtcctccagaatggaaggagtgccaaatcagagtac
cagtggataacttctccatcagtgaaggaaccatccaaaactgctaaacagaaaaggaga
actataattctaggaagtggtcacaaaggaaaagctactattagaattggattggctaca
aagaaacctgtaagtagtggcagaaaacactcccttggtaaagaatattatgcgcccgca
cctcttccacctggtgtgtctggtttcttgccgtggcgtactgcagaacgtgcaaaaaga
cacaggggtttcccattaatcaaaacacgtgatatatgtaatcagttgcagcaaccaggt
tttcctgtgactgtgacagtagagagtccttcatcctctgaagttgaagaggttgatgat
tcttcagagagtgttcatgaagtgcctgagaaaactagtatagaacaagaagcattacag
gaaaaactggaggagtgcctaaagcagttaaaggaagaaagagtgataaggcttaaggtt
gataaacgagtcagtgagctggaacatgaaaatgcccagttaagaaatataaatttctct
ttgtctgaagcccttcatgcacagtcattgacaaatatgatcctggatgatgaaggtgtt
ttgggcagcattgagaattcttttcagaagtttcatgctttcttggatctccttaaagat
gctgggcttgggcagcttgccacaatggctgggatagatcagtcagattttcaattacta
ggtcatccccagatgacttctactgttagtaatccacctaaagaagaaaagaaggcgctt
gaagatgaaaaaccagaaccgaagcagaatgccctagggcaaatgcaaaatatccagttt
cagaaaattacaggtgatgctagaattcctttgcctctcgactcctttcctgtcccagtt
tctactccagagggcttaggaacttccagcaacaacctaggagtcccagctactgagcag
cggcaggagtcttttgaaggattcattgctagaatgtgttctccttcaccagatgcgact
tctggaactggaagtcaaagaaaagaagaggagttgtccagaaatagcagatcttcttca
gagaaaaagaccaaaacagaatcccattga

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (12)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (10)   
DNA sequence (38)   
   RefSeq(nuc) (10)   
   GenBank (14)   
   EMBL (14)   
Protein domain (7)   
   Pfam (7)   
All databases (81)   

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