KEGG   Homo sapiens (human): 163786
Entry
163786            CDS       T01001                                 
Symbol
SASS6, MCPH14, SAS-6, SAS6
Name
(RefSeq) SAS-6 centriolar assembly protein
  KO
K16487  spindle assembly abnormal protein 6
Organism
hsa  Homo sapiens (human)
Disease
H00269  Primary microcephaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    163786 (SASS6)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Centriole proteins
    163786 (SASS6)
   Centrosome duplication proteins
    Centriole replication proteins
     163786 (SASS6)
SSDB
Motif
Pfam: SAS-6_N Sas6_CC CALCOCO1 Tir_receptor_M
Other DBs
NCBI-GeneID: 163786
NCBI-ProteinID: NP_919268
OMIM: 609321
HGNC: 25403
Ensembl: ENSG00000156876
UniProt: Q6UVJ0
Structure
Position
1:complement(100083570..100132930)
AA seq 657 aa
MSQVLFHQLVPLQVKCKDCEERRVSIRMSIELQSVSNPVHRKDLVIRLTDDTDPFFLYNL
VISEEDFQSLKFQQGLLVDFLAFPQKFIDLLQQCTQEHAKEIPRFLLQLVSPAAILDNSP
AFLNVVETNPFKHLTHLSLKLLPGNDVEIKKFLAGCLKCSKEEKLSLMQSLDDATKQLDF
TRKTLAEKKQELDKLRNEWASHTAALTNKHSQELTNEKEKALQAQVQYQQQHEQQKKDLE
ILHQQNIHQLQNRLSELEAANKDLTERKYKGDSTIRELKAKLSGVEEELQRTKQEVLSLR
RENSTLDVECHEKEKHVNQLQTKVAVLEQEIKDKDQLVLRTKEAFDTIQEQKVVLEENGE
KNQVQLGKLEATIKSLSAELLKANEIIKKLQGDLKTLMGKLKLKNTVTIQQEKLLAEKEE
KLQKEQKELQDVGQSLRIKEQEVCKLQEQLEATVKKLEESKQLLKNNEKLITWLNKELNE
NQLVRKQDVLGPSTTPPAHSSSNTIRSGISPNLNVVDGRLTYPTCGIGYPVSSAFAFQNT
FPHSISAKNTSHPGSGTKVQFNLQFTKPNASLGDVQSGATISMPCSTDKENGENVGLESK
YLKKREDSIPLRGLSQNLFSNSDHQRDGTLGALHTSSKPTALPSASSAYFPGQLPNS
NT seq 1974 nt   +upstreamnt  +downstreamnt
atgagccaagtgctgttccaccaactagtcccgttgcaggtgaaatgcaaagactgtgag
gagaggagagtaagtataagaatgagcattgaactacaatcagtttctaatccagttcac
agaaaggacttagttattcgtctgactgatgacacggatccattttttttatataacctt
gttatatctgaggaagattttcaaagtttaaaattccagcaaggtcttctggtagacttc
ttagctttcccacaaaaatttatagatctccttcagcaatgtactcaagaacatgccaaa
gaaattccaaggtttttgctacagttagtttctccagcagctattttggataactcacct
gcatttttaaatgtggtagagacaaatccttttaagcatcttacacacctctcactaaaa
cttttacctggaaatgatgtggagataaagaaatttctcgcaggctgtttgaaatgtagc
aaggaagaaaaattatcattgatgcaatcactagatgatgctactaagcaactggacttt
acacgaaagacattagcagaaaaaaaacaagaattagataagttacggaatgaatgggcg
tcacatacagcagccttgacaaacaagcattctcaggaactgacaaatgaaaaggaaaaa
gccttgcaggcacaggttcaatatcaacagcagcatgaacaacagaaaaaagatttagaa
atcctccatcaacaaaacatccaccagctacaaaacagactgtctgagttagaagcggct
aataaagacttaaccgaaagaaaatataaaggagactccactattagagaacttaaagca
aaactttctggtgttgaagaggagctacagcggactaagcaagaagtcctctctttgcga
agagagaattctacactagatgttgaatgccacgagaaagaaaagcacgttaatcagcta
caaacaaaagtggcagttttagaacaggaaatcaaggataaggaccagcttgttttaaga
acaaaagaggcatttgatacaatccaggaacaaaaggtggttttagaagaaaatggtgag
aaaaatcaagtacaactaggaaagcttgaagctacaataaaatcattatctgcagaactt
ctgaaggcaaatgaaattatcaagaagttacaaggggatctgaaaactttaatgggtaag
ttgaaattgaagaatacagttactattcagcaagaaaaactcttggctgagaaggaggaa
aaattacaaaaggaacaaaaggaattacaagatgttggacagtctcttcgaattaaagag
caagaggtatgcaaattacaagaacaattagaagctacagttaaaaaacttgaagaaagc
aaacaacttctaaaaaataatgaaaagttaatcacgtggttaaataaagaactaaatgaa
aatcagctagtgagaaagcaagatgtattgggaccttctactactccgcctgcacattcc
agcagcaacacaatcagaagtggaatttctcctaacctgaatgtggttgatggtagactg
acttacccaacctgtgggattggttatcctgtctcctctgcatttgcattccagaatacc
ttccctcattcgatatctgccaaaaataccagccaccctggttcaggaacaaaggttcag
tttaatttgcagtttacaaaaccaaatgcatcactaggagatgttcagtcaggagcaact
attagtatgccttgctcaactgataaggaaaatggtgaaaatgtagggttggaatccaaa
tacctgaagaaaagggaagatagcattcctttacgcggactcagccagaacctatttagt
aattcagaccatcagagagatggcactttaggagcattacatacatcttccaaacccaca
gcgctcccctctgcgtcttcagcctatttccctgggcagttaccaaacagttaa

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