AutismKB 2.0

Annotation Details for OFD1


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Basic Information Top
Gene Symbol:OFD1 ( 71-7A,CXorf5,JBTS10,MGC117039,MGC117040,SGBS2 )
Gene Full Name: oral-facial-digital syndrome 1
Band: Xp22.2
Quick LinksEntrez ID:8481; OMIM: 300170; Uniprot ID:OFD1_HUMAN; ENSEMBL ID: ENSG00000046651; HGNC ID: 2567
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO:0005813IDA-centrosome21399614
GO:0005814IDA-centriole20230748
GO:0005829TAS-cytosol-
GO:0005929IDA-cilium20230748
GO:0016020IDA-membrane19946888
GO:0034451ISS-centriolar satellite-
GO:0036064IDA-ciliary basal body20230748
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding17761535
GO:0042802IPI-identical protein binding17761535
GO:0043014ISS-alpha-tubulin binding-
GO:0043015ISS-gamma-tubulin binding-
GO ID Evidence Qualifier GO_term References
GO:0000086TAS-G2/M transition of mitotic cell cycle-
GO:0000278ISSNOTmitotic cell cycle-
GO:0007099ISSNOTcentriole replication-
GO:0060271ISS-cilium assembly-
GO:0060287ISS-epithelial cilium movement involved in determination of left/right asymmetry-
GO:0090307ISSNOTmitotic spindle assembly-
GO:0097711TAS-ciliary basal body docking-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
OFD1EIF611405516169070 Two-hybrid
OFD1EIF610989816169070 Two-hybrid
OFD1TRRAP11405517761535 Affinity Capture-Western
OFD1TRRAP11390017761535 Affinity Capture-Western
LUC7L2OFD111405516169070 Two-hybrid
LUC7L2OFD111964616169070 Two-hybrid
FAM190BOFD111405516169070 Two-hybrid
FAM190BOFD111996816169070 Two-hybrid
KIAA1377OFD111405516169070 Two-hybrid
KIAA1377OFD112161716169070 Two-hybrid
GPRASP1OFD111405516169070 Two-hybrid
GPRASP1OFD111508616169070 Two-hybrid
OFD1OFD111405517761535 Affinity Capture-Western
RUVBL1OFD111405517761535 Affinity Capture-Western; Reconstituted Complex
RUVBL1OFD111416617761535 Affinity Capture-Western; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1350328
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-030131-5427'