Gene Information
Gene NameOFD1
OrganismHomo sapiens (Human)
Gene Length1012
Protein NamesCentriole and centriolar satellite protein OFD1 (Oral-facial-digital syndrome 1 protein) (Protein 71-7A)
Target NameNA
Target TypeNA
Gene Age810 ( ENSG00000046651 )
Evolutionary StageEukaryota
AlphaFoldDBO75665
Gene CardOFD1
Uniprot IDO75665
PfamPF16045
In ASDno
Allosteric Predictionno (-0.400078561)
Ortholog in AnimalsAlpaca_ OFD1 ( ortholog_one2one )
Dog_ OFD1 ( ortholog_one2many )
GuineaPig_ OFD1 ( ortholog_one2one )
Macaque_ OFD1 ( ortholog_one2one )
Mouse_ Ofd1 ( ortholog_one2one )
Rat_ Ofd1 ( ortholog_one2one )
OhnologsNA
ParalogsNA
TissueNA
Tissue SpecificityWidely expressed. Expressed in 9 and 14 weeks old embryos in metanephric mesenchyme, oral mucosa, lung, heart, nasal and cranial cartilage, and brain. Expressed in metanephros, brain, tongue, and limb. {ECO:0000269|PubMed:12595504}.
Pharmacological Animal ModelsNA
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB NA 
DBSNP rs312262812  rs312262814  rs312262827  rs886039860  rs122460150 
Subcellular location [CC]Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:12595504, ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:20230748, ECO:0000269|PubMed:26643951}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:17761535}. Nucleus {ECO:0000269|PubMed:17761535}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:24121310, ECO:0000269|PubMed:26643951}. Note=Localizes to centriole distal ends and to centriolar satellites (PubMed:20230748, PubMed:24121310). Localization to centrioles and pericentriolar satellites may be mediated by KIAA0753/OFIP (PubMed:26643951). {ECO:0000269|PubMed:26643951}.
Mouse PG classificationNA
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