Property Summary

NCBI Gene PubMed Count 54
Grant Count 9
R01 Count 7
Funding $675,465
PubMed Score 89.94
PubTator Score 72.08

Knowledge Summary

Patent

No data available

Expression

Gene RIF (23)

PMID Text
25180832 polycystins are necessary for assembly of a novel flotillin-containing ciliary signaling complex and provide a molecular rationale for the common renal pathologies caused by OFD1 and polycystin mutations.
24691443 loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment.
24343661 OFD1 regulation and primary cilium formation are defective in autophagy-deficient cells
23036093 Novel OFD1 mutations have been identified in males with orofaciodigital syndromes and ciliary basal body docking impairment.
23033313 Data indicate that although the OFD1 gene apparently escapes X-inactivation, skewed inactivation was observed in seven of 14 patient.
22619378 Deep intronic mutation in OFD1 causes a severe form of X-linked retinitis pigmentosa.
22548404 Identification of a causative splicing mutation in OFD1, through exome sequencing, in a family with three males having an 'unclassified' X-linked lethal congenital malformation syndrome.
22353940 Sequence deletion in OFD1 has been identified as the cause of X-linked Joubert syndrome.
21729220 A single-base deletion in exon 16 of OFD1 (c.2183delG) leading to a frameshift was detected in proband, her mother, and her sister. All 3 women had similar oral phenotype; new mutation might be involved in development of OFD1 oral manifestations.
20818665 Documentation of OFD I mutations, extreme beading of the intrahepatic bile ducts and pancreatic cysts of patients having hepatic, pancreatic, and renal cystic disease.
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AA Sequence

MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPRSISVEGSSLL      1 - 70
IGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPTSSLYKSLVSGSDKENQKGFL     71 - 140
MHFLKELAEYHQAKESCNMETQTSSTFNRDSLAEKLQLIDDQFADAYPQRIKFESLEIKLNEYKREIEEQ    141 - 210
LRAEMCQKLKFFKDTEIAKIKMEAKKKYEKELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETK    211 - 280
EIYAQRQLLLKDMDLLRGREAELKQRVEAFELNQKLQEEKHKSITEALRRQEQNIKSFEETYDRKLKNEL    281 - 350
LKYQLELKDDYIIRTNRLIEDERKNKEKAVHLQEELIAINSKKEELNQSVNRVKELELELESVKAQSLAI    351 - 420
TKQNHMLNEKVKEMSDYSLLKEEKLELLAQNKLLKQQLEESRNENLRLLNRLAQPAPELAVFQKELRKAE    421 - 490
KAIVVEHEEFESCRQALHKQLQDEIEHSAQLKAQILGYKASVKSLTTQVADLKLQLKQTQTALENEVYCN    491 - 560
PKQSVIDRSVNGLINGNVVPCNGEISGDFLNNPFKQENVLARMVASRITNYPTAWVEGSSPDSDLEFVAN    561 - 630
TKARVKELQQEAERLEKAFRSYHRRVIKNSAKSPLAAKSPPSLHLLEAFKNITSSSPERHIFGEDRVVSE    631 - 700
QPQVGTLEERNDVVEALTGSAASRLRGGTSSRRLSSTPLPKAKRSLESEMYLEGLGRSHIASPSPCPDRM    701 - 770
PLPSPTESRHSLSIPPVSSPPEQKVGLYRRQTELQDKSEFSDVDKLAFKDNEEFESSFESAGNMPRQLEM    771 - 840
GGLSPAGDMSHVDAAAAAVPLSYQHPSVDQKQIEEQKEEEKIREQQVKERRQREERRQSNLQEVLERERR    841 - 910
ELEKLYQERKMIEESLKIKIKKELEMENELEMSNQEIKDKSAHSENPLEKYMKIIQQEQDQESADKSSKK    911 - 980
MVQEGSLVDTLQSSDKVESLTGFSHEELDDSW                                          981 - 1012
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Text Mined References (58)

PMID Year Title
26638075 2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
25180832 2014 OFD1 and flotillins are integral components of a ciliary signaling protein complex organized by polycystins in renal epithelia and odontoblasts.
24997988 2014 The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
24691443 2014 Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
24343661 2014 Self-eating to remove cilia roadblock.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24121310 2013 A new cellular stress response that triggers centriolar satellite reorganization and ciliogenesis.
24089205 2013 Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.
23789104 2013 Primary ciliogenesis requires the distal appendage component Cep123.
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