Homo sapiens (human): 8481
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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 and related disorders
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
LisH_2
LisH
FOP_dimer
Motif
Other DBs
NCBI-GeneID:
8481
NCBI-ProteinID:
NP_003602
OMIM:
300170
HGNC:
2567
Ensembl:
ENSG00000046651
UniProt:
O75665
E9KL37
LinkDB
All DBs
Position
X:13714505..13773738
Genome browser
AA seq
1012 aa
AA seq
DB search
MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPR
SISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPT
SSLYKSLVSGSDKENQKGFLMHFLKELAEYHQAKESCNMETQTSSTFNRDSLAEKLQLID
DQFADAYPQRIKFESLEIKLNEYKREIEEQLRAEMCQKLKFFKDTEIAKIKMEAKKKYEK
ELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETKEIYAQRQLLLKDMDLLRGRE
AELKQRVEAFELNQKLQEEKHKSITEALRRQEQNIKSFEETYDRKLKNELLKYQLELKDD
YIIRTNRLIEDERKNKEKAVHLQEELIAINSKKEELNQSVNRVKELELELESVKAQSLAI
TKQNHMLNEKVKEMSDYSLLKEEKLELLAQNKLLKQQLEESRNENLRLLNRLAQPAPELA
VFQKELRKAEKAIVVEHEEFESCRQALHKQLQDEIEHSAQLKAQILGYKASVKSLTTQVA
DLKLQLKQTQTALENEVYCNPKQSVIDRSVNGLINGNVVPCNGEISGDFLNNPFKQENVL
ARMVASRITNYPTAWVEGSSPDSDLEFVANTKARVKELQQEAERLEKAFRSYHRRVIKNS
AKSPLAAKSPPSLHLLEAFKNITSSSPERHIFGEDRVVSEQPQVGTLEERNDVVEALTGS
AASRLRGGTSSRRLSSTPLPKAKRSLESEMYLEGLGRSHIASPSPCPDRMPLPSPTESRH
SLSIPPVSSPPEQKVGLYRRQTELQDKSEFSDVDKLAFKDNEEFESSFESAGNMPRQLEM
GGLSPAGDMSHVDAAAAAVPLSYQHPSVDQKQIEEQKEEEKIREQQVKERRQREERRQSN
LQEVLERERRELEKLYQERKMIEESLKIKIKKELEMENELEMSNQEIKDKSAHSENPLEK
YMKIIQQEQDQESADKSSKKMVQEGSLVDTLQSSDKVESLTGFSHEELDDSW
NT seq
3039 nt
NT seq
+upstream
nt +downstream
nt
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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