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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 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: OFD1
Gene Tree: Ofd1

Human
homologs
OFD1, oral-facial-digital syndrome 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 8481
neXtProt AC: NX_O75665

Human Synonyms: 71-7A, CXorf5, JBTS10, RP23, SGBS2

Human Chr (Location): Xp22; chrX:13715423-13771402 (+)  GRCh38.p2

Disease Associations: (4) Diseases Associated with Human OFD1

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(4) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Mutations Annotated to Human Diseases (1)   
Interactions
Ofd1 interacts with 168 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (28 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)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 70
RT-PCR 2
cDNA source data(29)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ofd1    NEW 
Molecular
reagents
All nucleic(30) cDNA(29) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000019549 (Evidence)
Ensembl Gene Model ENSMUSG00000040586 (Evidence)
Entrez Gene 237222 (Evidence)
UniGene 247480
DFCI TC1581213, TC1709340
NIA Mouse Gene Index U039862
Consensus CDS Project CCDS53248.1
International Mouse Phenotyping Consortium Status Ofd1
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 LIS1 homology 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:212768 Liu YP, et al., Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. J Clin Invest. 2014 May 1;124(5):2059-70
All references(43)
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
08/25/2015
MGI 6.0
The Jackson Laboratory