KEGG   Homo sapiens (human): 8481
Entry
8481              CDS       T01001                                 
Symbol
OFD1, 71-7A, CXorf5, JBTS10, RP23, SGBS2
Name
(RefSeq) OFD1 centriole and centriolar satellite protein
  KO
K16480  oral-facial-digital syndrome 1 protein
Organism
hsa  Homo sapiens (human)
Disease
H00454  Oral-facial-digital syndrome
H00527  Retinitis pigmentosa
H00530  Joubert syndrome
H01215  Simpson-Golabi-Behmel syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    8481 (OFD1)
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    8481 (OFD1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Centriole proteins
    8481 (OFD1)
   Pericentriolar materials (PCM)
    Centriolar satellite
     8481 (OFD1)
   Centrosome duplication proteins
    Centriole replication proteins
     8481 (OFD1)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   8481 (OFD1)
SSDB
Motif
Pfam: LisH_2 LisH
Other DBs
NCBI-GeneID: 8481
NCBI-ProteinID: NP_003602
OMIM: 300170
HGNC: 2567
Ensembl: ENSG00000046651
Pharos: O75665(Tbio)
UniProt: O75665 E9KL37
Position
X:13714505..13773738
AA seq 1012 aa
MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPR
SISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPT
SSLYKSLVSGSDKENQKGFLMHFLKELAEYHQAKESCNMETQTSSTFNRDSLAEKLQLID
DQFADAYPQRIKFESLEIKLNEYKREIEEQLRAEMCQKLKFFKDTEIAKIKMEAKKKYEK
ELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETKEIYAQRQLLLKDMDLLRGRE
AELKQRVEAFELNQKLQEEKHKSITEALRRQEQNIKSFEETYDRKLKNELLKYQLELKDD
YIIRTNRLIEDERKNKEKAVHLQEELIAINSKKEELNQSVNRVKELELELESVKAQSLAI
TKQNHMLNEKVKEMSDYSLLKEEKLELLAQNKLLKQQLEESRNENLRLLNRLAQPAPELA
VFQKELRKAEKAIVVEHEEFESCRQALHKQLQDEIEHSAQLKAQILGYKASVKSLTTQVA
DLKLQLKQTQTALENEVYCNPKQSVIDRSVNGLINGNVVPCNGEISGDFLNNPFKQENVL
ARMVASRITNYPTAWVEGSSPDSDLEFVANTKARVKELQQEAERLEKAFRSYHRRVIKNS
AKSPLAAKSPPSLHLLEAFKNITSSSPERHIFGEDRVVSEQPQVGTLEERNDVVEALTGS
AASRLRGGTSSRRLSSTPLPKAKRSLESEMYLEGLGRSHIASPSPCPDRMPLPSPTESRH
SLSIPPVSSPPEQKVGLYRRQTELQDKSEFSDVDKLAFKDNEEFESSFESAGNMPRQLEM
GGLSPAGDMSHVDAAAAAVPLSYQHPSVDQKQIEEQKEEEKIREQQVKERRQREERRQSN
LQEVLERERRELEKLYQERKMIEESLKIKIKKELEMENELEMSNQEIKDKSAHSENPLEK
YMKIIQQEQDQESADKSSKKMVQEGSLVDTLQSSDKVESLTGFSHEELDDSW
NT seq 3039 nt   +upstreamnt  +downstreamnt
atgatggcgcagtccaacatgtttaccgtggctgatgtgttgagtcaagatgaactgcgc
aaaaagctataccagacgtttaaggatcggggtatactggatacactcaagacacaactt
cgaaaccagctaattcatgagttgatgcaccctgtattgagtggagaactgcagcctcgg
tccatttcagtagaagggagctccctcttaataggcgcctctaactctttagtggcagat
cacttacaaagatgtggctatgaatattcactttctgttttctttccagaaagtggtttg
gcaaaagaaaaggtatttactatgcaggatctattacaactcattaaaatcaaccctact
tccagtctctacaaatcactggtttcaggatctgataaagaaaatcaaaaaggttttctt
atgcattttttaaaagaattggcagaatatcatcaagctaaagagagttgtaatatggaa
actcagacaagttcgacatttaacagagattctctggctgagaagcttcagcttattgat
gatcagtttgcagatgcttaccctcagcgtatcaagttcgaatctttagaaataaagcta
aatgagtataagagagaaatagaagagcaacttcgggcagaaatgtgtcaaaagttgaag
ttttttaaagataccgagatagcaaaaattaaaatggaagcaaaaaaaaagtatgaaaag
gagttaaccatgttccagaatgattttgaaaaagcttgtcaagcaaaatctgaagctctc
gttcttcgggaaaagagtacccttgaaagaattcacaagcaccaagagattgaaacaaaa
gaaatttatgctcaaaggcaacttttactaaaagatatggatttgctaagaggaagagaa
gcagagctgaagcaaagagttgaagcttttgaattgaaccagaagctccaggaagaaaaa
cataaaagcataactgaggcacttaggagacaggagcagaatataaagagttttgaggag
acctatgaccgaaagctcaagaatgaacttctaaagtatcaacttgaactgaaggatgac
tacatcattagaactaatcgactgattgaagatgaaaggaagaataaagaaaaagctgtt
catttgcaagaggagctcatagctattaattcaaaaaaggaggaactcaatcaatctgta
aatcgtgtgaaagaacttgagcttgaattagagtctgtcaaagcccagtctttggcaata
acaaaacaaaaccatatgctgaatgaaaaggttaaagagatgagtgattattcactacta
aaagaagagaaactggagcttctggcacaaaataaattacttaaacaacaactggaagag
agtagaaatgaaaacctgcgtctcctaaaccgcctagctcagccggctcctgaacttgca
gtctttcagaaagaactacggaaagccgaaaaggctatagtggttgagcatgaggagttc
gaaagctgcaggcaagctctgcacaaacaactgcaagacgaaattgagcattctgcacag
ctgaaggcccagattctaggttacaaagcttctgtaaagagtttaactactcaggttgcc
gatttaaaattgcaactgaagcaaactcagacagccctagagaatgaagtgtactgcaat
ccaaagcagtctgtgatcgatcgttctgtcaatggattaataaatggcaatgtggtgcct
tgcaatggtgagataagtggggatttcttgaacaatccttttaaacaggaaaacgttcta
gcacgtatggttgcatcaaggatcacaaattatccaactgcatgggtggagggtagttcc
cctgattctgaccttgagtttgtagccaatactaaggcaagggtcaaagagcttcagcaa
gaggccgaacgcttggaaaaggctttcagaagttaccatcggagagtcattaaaaactct
gccaaaagcccactagcagcaaagagcccaccatctctgcacttgctggaagccttcaaa
aacattacttccagttccccggaaagacatatttttggagaggacagagttgtctctgag
cagcctcaagtgggcacacttgaagaaaggaatgacgtcgtggaagcactgacaggcagt
gcagcctcgaggctccgcgggggcacttcctccagacgcctctcttccacaccccttcca
aaagcaaaaagaagcctcgaaagtgaaatgtatctggaaggtctgggcagatcacacatt
gcttcccccagtccttgtcctgacagaatgcccctaccatcacccactgagtctaggcac
agcctctccatccctcctgtctccagccctccggagcagaaagtgggtctttatcgaaga
caaactgaacttcaagacaaaagtgaattttcagatgtggacaagctagcttttaaggat
aatgaggagtttgaatcatcttttgaatctgcagggaacatgccaaggcagttggaaatg
ggcgggctttctcctgccggggatatgtctcatgtggacgctgctgcagctgctgtgccc
ctctcatatcagcacccaagtgtagatcagaaacaaattgaagaacaaaaggaagaagaa
aaaatacgggaacagcaagtgaaagaacgaaggcagagagaagaaagaaggcagagtaac
ctacaagaagttttagaaagggaacgaagagaactagaaaaactgtatcaggaaaggaag
atgattgaagaatcactgaagattaaaataaaaaaggaattagaaatggaaaatgaatta
gaaatgagtaatcaagaaataaaagacaaatctgctcacagtgaaaatcctttagagaaa
tacatgaaaatcatccagcaggagcaagaccaggagtcggcagataagagctcaaaaaag
atggtccaagaaggctccctagtggacacgctgcaatctagtgacaaagtcgaaagttta
acaggcttttctcatgaagaactagacgactcttggtaa

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