KEGG   Homo sapiens (human): 25886
Entry
25886             CDS       T01001                                 
Symbol
POC1A, PIX2, SOFT, WDR51A
Name
(RefSeq) POC1 centriolar protein A
  KO
K16482  centriolar protein POC1
Organism
hsa  Homo sapiens (human)
Disease
H02481  Syndromic disorder with short stature
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    25886 (POC1A)
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    25886 (POC1A)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Centriole proteins
    25886 (POC1A)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   25886 (POC1A)
SSDB
Motif
Pfam: WD40 WD40_Prp19 WD40_WDHD1_1st WD40_CDC20-Fz Beta-prop_EML_2 Beta-prop_WDR90_POC16_2nd Beta-prop_TEP1_2nd Beta-prop_CAF1B_HIR1 EIF3I WDR55 WD40_MABP1-WDR62_2nd Beta-prop_IFT122_1st NBCH_WD40 ANAPC4_WD40 WD40_MABP1-WDR62_1st Beta-prop_EML Beta-prop_TEP1_C Beta-prop_WDR75_1st WDR90_beta-prop_4th Beta-prop_EIPR1 Beta-prop_IFT140_1st Beta-prop_SCAP Beta-prop_WDR19_1st WD40_RFWD3 Beta-prop_Vps41 Beta-prop_HPS5 eIF2A Beta-prop_RIG_2nd Beta-prop_DCAF4 Beta-prop_SPT8 Beta-prop_WDR35_TULP_N Beta-prop_NWD2_C Ge1_WD40 Beta-prop_Nup120_160 Beta-prop_DCAF12 Beta-prop_IP5PC_F Beta-prop_WDR75_2nd Beta-prop_NUP159_NUP214 PROPPIN Cytochrom_D1
Other DBs
NCBI-GeneID: 25886
NCBI-ProteinID: NP_056241
OMIM: 614783
HGNC: 24488
Ensembl: ENSG00000164087
UniProt: Q8NBT0
LinkDB
Position
3:complement(52075226..52154423)
AA seq 407 aa
MAAPCAEDPSLERHFKGHRDAVTCVDFSINTKQLASGSMDSCLMVWHMKPQSRAYRFTGH
KDAVTCVNFSPSGHLLASGSRDKTVRIWVPNVKGESTVFRAHTATVRSVHFCSDGQSFVT
ASDDKTVKVWATHRQKFLFSLSQHINWVRCAKFSPDGRLIVSASDDKTVKLWDKSSRECV
HSYCEHGGFVTYVDFHPSGTCIAAAGMDNTVKVWDVRTHRLLQHYQLHSAAVNGLSFHPS
GNYLITASSDSTLKILDLMEGRLLYTLHGHQGPATTVAFSRTGEYFASGGSDEQVMVWKS
NFDIVDHGEVTKVPRPPATLASSMGNLPEVDFPVPPGRGRSVESVQSQPQEPVSVPQTLT
STLEHIVGQLDVLTQTVSILEQRLTLTEDKLKQCLENQQLIMQRATP
NT seq 1224 nt   +upstreamnt  +downstreamnt
atggctgcgccctgcgcggaggacccctcgctggaaaggcattttaagggccaccgagat
gcagttacctgtgtggacttcagtatcaacacaaagcagctggccagtggctccatggac
tcatgcctcatggtctggcacatgaagccgcagtcacgcgcctaccgcttcactggccac
aaggatgccgtcacctgtgtgaacttctctccttcgggacacctgcttgcttccggctcc
cgagacaagactgtccgcatctgggtacccaatgtcaaaggtgagtccactgtgtttcgt
gcacacacagccacagtgaggagtgtccacttctgcagtgatggccagtccttcgtgaca
gcctctgacgacaagacagtcaaagtgtgggcaactcatcgccagaaattcctgttctcc
ctgagccagcatatcaactgggtccgctgtgccaagttctcccccgacgggcggctcatc
gtgtctgccagtgatgacaagactgttaagctgtgggacaagagcagccgggaatgtgtc
cactcgtattgtgagcatggcggctttgtcacctatgtggacttccaccccagtgggacg
tgcattgccgctgccggcatggacaacacagtgaaggtgtgggacgtgcggactcaccgg
ctgctgcagcattatcagttgcacagtgcagcagtgaacgggctctctttccacccgtcg
ggaaactacctgatcacagcctccagtgactcaaccctgaagatcctggacctgatggag
ggccggctgctctacacactccacgggcatcagggaccagccaccactgttgccttttca
agaacgggggagtattttgcttctggaggctctgatgaacaagtgatggtttggaagagt
aactttgatattgttgatcatggagaagtcacgaaagtgccgaggcccccagccacactg
gccagctccatggggaatctgccagaagtggacttccctgtccccccaggcagaggcagg
agtgtggagtctgtgcagagccagccccaggagcccgtgagtgtgccccagacactgact
agcacgctggagcacattgtgggccagctggatgtcctcactcagacagtctccattctg
gagcagcggttgacactgacagaagacaagctgaagcagtgtctggagaaccagcagcta
atcatgcagagagcaacaccatga

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