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Article

Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex.

Molecular biology of the cell - 1 Nov 2007

Giorgio Giovanna, Alfieri Mariaevelina, Prattichizzo Clelia, Zullo Alessandro, Cairo Stefano, Franco Brunella

Abstract excerpt

Oral-facial-digital (OFD) type I syndrome is an X-linked dominant disease (MIM311200) characterized by malformations of oral cavity, face, and digits and by cystic kidneys. We previously identified OFD1, the gene responsible for this disorder, which encodes for a centrosomal protein with an unkno...

Topics

Adenosine Triphosphatases
Amino Acid Motifs
Animals
Cell Line
Cell Nucleus
Chlorocebus aethiops
Chromatin Assembly and Disassembly
Cilia
Dogs
Histone Acetyltransferases
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Multiprotein Complexes

Mutation

Protein Binding

Protein Subunits

Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 17761535
DOI: 10.1091/mbc.e07-03-0198
PMCID: PMC2043566

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-17761535-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex.PMID 17761535Read ↗

The molecular basis of oral-facial-digital syndrome, type 1.Semantic proximity Read ↗

OFD Type I syndrome: lessons learned from a rare ciliopathy.Semantic proximity Read ↗

The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression.Semantic proximity Read ↗

Myosin VI regulates ciliogenesis by promoting the turnover of the centrosomal/satellite protein OFD1Semantic proximity Read ↗

Identification of the gene for oral-facial-digital type I syndrome.Semantic proximity Read ↗

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.Semantic proximity Read ↗

OFD1: One gene, several disorders.Semantic proximity Read ↗

Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.Semantic proximity Read ↗

The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells.Semantic proximity Read ↗

Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.Semantic proximity Read ↗

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.Semantic proximity Read ↗

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.Semantic proximity Read ↗

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