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Ofd1
Gene Detail
 Symbol
Name
ID
Ofd1
oral-facial-digital syndrome 1 gene homolog (human)
MGI:1350328
Synonyms DXGgc7e, ORF2
Feature Type protein coding gene
Genetic Map
Chromosome X
77.28 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
ChrX:166390033-166440704 bp, - strand
From VEGA annotation of GRCm38

  50672 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2677  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ofd1

Human
homologs
Human Homolog OFD1, oral-facial-digital syndrome 1
NCBI Gene ID 8481
neXtProt AC  NX_O75665
Human Synonyms  71-7A, CXorf5, JBTS10, RP23, SGBS2
Human Chr (Location)  Xp22; chrX:13715430-13769361 (+)  GRCh38
Disease Associations  (4) Diseases Associated with Human OFD1
Alleles
and
phenotypes
All alleles(10) : Targeted(6) Gene trapped(4)
 
Hemizygous conditional deletion of this gene results in embryonic lethality during organogenesis, impaired left-right axis patterning, and malformation of Henson's node cells. Heterozygous conditional deletion of this gene results in neonatal lethality, cystic kidneys, polydactyly, and cleft palate.
 
Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process axoneme assembly, cell projection organization, ...
Component cell projection, centriolar satellite, ...
Function alpha-tubulin binding, gamma-tubulin binding
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (72)    Tissues (64)    Images (4)
Theiler Stages: 20, 21, 22, 24, 26, 28
Assay TypeResults
RNA in situ 70
RT-PCR 2
cDNA source data(29)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(30) cDNA(29) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000019549 (Evidence)
Ensembl Gene ModelENSMUSG00000040586 (Evidence)
Entrez Gene237222 (Evidence)
UniGene247480
DFCITC1581213, TC1709340
NIA Mouse Gene IndexU039862
Consensus CDS ProjectCCDS53248.1
International Mouse Knockout Project StatusOfd1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019549 VEGA Gene Model | MGI Sequence Detail 50672 C57BL/6J ±  kb
transcript OTTMUST00000046686 VEGA | MGI Sequence Detail 4453 Not Applicable 
polypeptide OTTMUSP00000021090 VEGA | MGI Sequence Detail 1019 Not Applicable 

For the selected sequences
All sequences(29) RefSeq(4) UniProt(4)
Polymorphisms RFLP(1) : SNPs within 2kb(184 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006594 LisH dimerisation motif
Protein Ontology PR:000011611 oral-facial-digital syndrome 1 protein
References (Earliest) J:49565 de Conciliis L, et al., Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics. 1998 Jul 15;51(2):243-50
(Latest) J:203424 Tang Z, et al., Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites. Nature. 2013 Oct 10;502(7470):254-7
All references(42)
Other
accession IDs
MGI:1096319

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory