KEGG   Homo sapiens (human): 10806
Entry
10806             CDS       T01001                                 
Symbol
SDCCAG8, BBS16, CCCAP, CCCAP_SLSN7, HSPC085, NPHP10, NY-CO-8, SLSN7, hCCCAP
Name
(RefSeq) SHH signaling and ciliogenesis regulator SDCCAG8
  KO
K16488  serologically defined colon cancer antigen 8
Organism
hsa  Homo sapiens (human)
Disease
H00418  Bardet-Biedl syndrome
H00537  Nephronophthisis
H00538  Senior-Loken syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    10806 (SDCCAG8)
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    10806 (SDCCAG8)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Centriole proteins
    10806 (SDCCAG8)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   10806 (SDCCAG8)
SSDB
Motif
Pfam: CCCAP ATG16 Aegerolysin
Other DBs
NCBI-GeneID: 10806
NCBI-ProteinID: NP_006633
OMIM: 613524
HGNC: 10671
Ensembl: ENSG00000054282
UniProt: Q86SQ7
Position
1:243256041..243500091
AA seq 713 aa
MAKSPENSTLEEILGQYQRSLREHASRSIHQLTCALKEGDVTIGEDAPNLSFSTSVGNED
ARTAWPELQQSHAVNQLKDLLRQQADKESEVSPSRRRKMSPLRSLEHEETNMPTMHDLVH
TINDQSQYIHHLEAEVKFCKEELSGMKNKIQVVVLENEGLQQQLKSQRQEETLREQTLLD
ASGNMHNSWITTGEDSGVGETSKRPFSHDNADFGKAASAGEQLELEKLKLTYEEKCEIEE
SQLKFLRNDLAEYQRTCEDLKEQLKHKEFLLAANTCNRVGGLCLKCAQHEAVLSQTHTNV
HMQTIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQISEEANFEKTKALIQ
CDQLRKELERQAERLEKELASQQEKRAIEKDMMKKEITKEREYMGSKMLILSQNIAQLEA
QVEKVTKEKISAINQLEEIQSQLASREMDVTKVCGEMRYQLNKTNMEKDEAEKEHREFRA
KTNRDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLGESEHQLHLTRQ
EKDSIQQSFSKEAKAQALQAQQREQELTQKIQQMEAQHDKTENEQYLLLTSQNTFLTKLK
EECCTLAKKLEQISQKTRSEIAQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMK
QRLRQLDKHSQATAQQLVQLLSKQNQLLLERQSLSEEVDRLRTQLPSMPQSDC
NT seq 2142 nt   +upstreamnt  +downstreamnt
atggcgaagtccccggagaactctaccctggaggagattctggggcagtatcaacggagt
ctccgggaacatgccagcagaagcattcaccaactgacatgtgccctgaaagaaggcgat
gtcactattggagaagatgcaccaaatctttcttttagcaccagtgtgggaaatgaggac
gccaggacagcctggcccgaattacaacagagccatgctgttaatcagctcaaagatttg
ttgcgccaacaagcagataaggaaagtgaagtatctccgtcaagaagaagaaaaatgtcc
cccttgaggtcattagaacatgaggaaaccaatatgcctactatgcacgaccttgttcat
actattaatgaccagtctcaatatattcatcatttagaggcagaagttaagttctgcaag
gaggaactctctggaatgaaaaataaaatacaagtagttgtgcttgaaaacgaagggctc
cagcaacagctaaaatctcaaagacaagaggagacactgagggaacaaacacttctggat
gcatccggaaacatgcacaattcttggattacaacaggtgaagattctggggtgggcgaa
acctccaaaagaccattttcccatgacaatgcagattttggcaaagctgcatctgctggt
gagcagctagaactggagaagctaaaacttacttatgaggaaaagtgtgaaattgaggaa
tcccaattgaagtttttgaggaacgacttagctgaatatcagagaacttgtgaagatctt
aaagagcaactaaagcataaagaatttcttctggctgctaatacttgtaaccgtgttggt
ggtctttgtttgaaatgtgctcagcatgaagctgttctttcccaaacccatactaatgtt
catatgcagaccatcgaaagactggttaaagaaagagatgacttgatgtctgcactagtt
tccgtaaggagcagcttggcagatacgcagcaaagagaagcaagtgcttatgaacaggtg
aaacaagttttgcaaatatctgaggaagccaattttgaaaaaaccaaggctttaatccag
tgtgaccagttgaggaaggagctggagaggcaggcggagcgacttgaaaaagaacttgca
tctcagcaagagaaaagggccattgagaaagacatgatgaaaaaggaaataacgaaagaa
agggagtacatgggatcaaagatgttgatcttgtctcagaatattgcccaactggaggcc
caggtggaaaaggttacaaaggaaaagatttcagctattaatcaactggaggaaattcaa
agccagctggcttctcgggaaatggatgtcacaaaggtgtgtggagaaatgcgctatcag
ctgaataaaaccaacatggagaaggatgaggcagaaaaggagcacagagagttcagagca
aaaactaacagggatcttgaaattaaagatcaggaaatagagaaattgagaatagaactg
gatgaaagcaaacaacacttggaacaggagcagcagaaggcagccctggccagagaggag
tgcctgagactaacagaactgctgggcgaatctgagcaccaactgcacctcaccagacag
gaaaaagatagcattcagcagagctttagcaaggaagcaaaggcccaagcccttcaggcc
cagcaaagagagcaggagctgacacagaagatacagcaaatggaggcccagcatgacaaa
actgaaaatgaacagtatttgttgctgacctcccagaatacatttttgacaaagttaaag
gaagaatgctgtacattagccaagaaactggaacaaatctctcaaaaaaccagatctgaa
atagctcaactcagtcaagaaaaaaggtatacatatgataaattgggaaagttacagaga
agaaatgaagaattggaggaacagtgtgtccagcatgggagagtacatgagacgatgaag
caaaggctaaggcagctggataagcacagccaggccacagcccagcagctggtgcagctc
ctcagcaagcagaaccagcttctcctggagaggcagagcctgtcggaagaggtggaccgg
ctgcggacccagttacccagcatgccacaatctgattgctga

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