OFD1 Gene
protein-coding GIFtS: 59
GCID: GC0XP013752
|
|
oral-facial-digital syndrome 1(Previous name: retinitis pigmentosa 23 (X-linked recessive) )
(Previous symbols: CXorf5, RP23)
| |
Aliases
for OFD1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Oral-Facial-Digital Syndrome 11 2 | | Retinitis Pigmentosa 23 (X-Linked Recessive)1 2 | | CXorf51 2 3 5 | | Protein 71-7A2 3 | | JBTS101 2 5 | | SGBS22 5 | | 71-7A1 2 | | Oral-Facial-Digital Syndrome 1 Protein2 | | RP231 2 | | |
Export aliases for OFD1 gene to outside databasesPrevious GC identifers: GC0XP012991 GC0XP012572 GC0XP013114 GC0XP013512 GC0XP013662 GC0XP011510 |
Summaries
for OFD1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for OFD1:
This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used tostudy the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike thehuman gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digitalsyndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogeneis found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively splicedtranscripts have been described for this gene but the biological validity of these transcripts has not beendetermined. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: OFD1_HUMAN, O75665Function: Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centrioleIFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, acentriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required totransduce signals important for development and tissue homeostasis. Plays an important role in development byregulating Wnt signaling and the specification of the left-right axis (By similarity)
Gene Wiki entry for OFD1
|
Genomic Views
for OFD1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_167197.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the OFD1 gene promoter:
GR LHX3b/Lhx3b NCX/Ncx Evi-1 RORalpha2 FOXL1 POU2F1 POU2F1a LHX3a/Lhx3a GR-alpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for OFD1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OFD1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xp22 Ensembl cytogenetic band: Xp22.2 HGNC cytogenetic band: Xp22OFD1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XP013752: view genomic region
(about GC identifiers)
Start:
|
13,752,832 bp from pter |
End:
|
13,787,480 bp from pter |
Size:
|
34,649 bases |
Orientation:
|
plus strand |
|
Proteins
for OFD1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: OFD1_HUMAN, O75665 (See
protein sequence)Recommended Name: Oral-facial-digital syndrome 1 protein Size: 1012 amino acids; 116671 Da
Subunit: Homooligomer. Interacts with LCA5. Interacts with RUVBL1; the interaction is direct and may mediateinteraction with the NuA4 histone acetyltransferase complex. Interacts with SDCCAG8; the interaction is direct
Subcellular location: Cytoplasm, cytoskeleton, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body.Nucleus. Note=Localizes to centriole distal ends (By similarity)
Secondary accessions: B9ZVU5 O75666 Q4VAK4Alternative splicing: 3 isoforms: O75665-1 O75665-2 O75665-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for OFD1: NX_O75665
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O75665
OFD1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_003602.1
ENSEMBL proteins: ENSP00000344314 ENSP00000369941 ENSP00000369923 ENSP00000381432 Reactome Protein details: O75665
Human Recombinant Protein Products for OFD1:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
OFD1 for ontologies About GeneDecksing
OFD1 Antibody Products:
Assay Products for OFD1: |
Protein
Domains /
Families
for OFD1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
OFD1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry O75665ProtoNet protein and cluster: O75665 1 Blocks protein family: IPB006594 Lissencephaly type-1-like homology motif
UniProtKB/Swiss-Prot: OFD1_HUMAN, O75665Similarity: Belongs to the OFD1 familySimilarity: Contains 1 LisH domain |
Function
for OFD1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: OFD1_HUMAN, O75665Function: Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centrioleIFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, acentriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required totransduce signals important for development and tissue homeostasis. Plays an important role in development byregulating Wnt signaling and the specification of the left-right axis (By similarity) Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
OFD1 for ontologies About GeneDecksing
Phenotypes:
12 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Ofd1):
OFD1 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Ofd1tm1Bfra for OFD1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OFD1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OFD1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: OFD1 (NM_003611) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for OFD1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OFD1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OFD1 |
|
Pathways & Interactions
for OFD1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Recruitment of mitotic centrosome proteins and complexes | | | 2 | Cell Cycle | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/8 
Reactome Pathways for OFD1 (see all 8)
OFD1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OFD1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/68 Interacting proteins for OFD1 (O756651, 2, 3 ENSP000003443144) via UniProtKB, MINT, STRING, and/or I2D (see all 68)About this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table
OFD1 for ontologies About GeneDecksing
|
Drugs & Compounds
for OFD1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for OFD1
Search CenterWatch for drugs/clinical trials and news about OFD1
|
Transcripts
for OFD1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for OFD1 gene: NM_003611.2 Unigene Cluster for OFD1: Oral-facial-digital syndrome 1 Hs.6483 [show with all ESTs]Unigene Representative Sequence: NM_0036119 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000340096(uc004cvp.4 uc010nen.3) ENST00000380567(uc004cvq.4 uc004cvs.4)
ENST00000485052 ENST00000490265(uc004cvr.4 uc011mil.2) ENST00000466534
ENST00000464463 ENST00000474705 ENST00000380550(uc010neo.1 uc004cvu.4 uc004cvv.4)
ENST00000398395
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OFD1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OFD1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: OFD1 (NM_003611) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for OFD1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OFD1 |
Additional cDNA sequence: AK225847.1 AK289677.1 AK290354.1 AK297104.1 AK311067.1 BC012324.1 BC030787.1 BC042830.1 BC052809.1 BC062432.1 BC092448.1 BC096344.3 BC096345.1 GU727634.1 Y15164.1 22 DOTS entries: DT.100794905 DT.455647 DT.101959262 DT.95281783 DT.121307239 DT.40257751 DT.92020973 DT.100794904 DT.101976838 DT.102831798 DT.97824032 DT.92433664 DT.92433677 DT.99937425 DT.120836434 DT.86849468 DT.99939489 DT.100794906 DT.75132428 DT.92433666 DT.95074813 DT.92433675 24/181 AceView cDNA sequences (see all 181): AA399610 CB162920 BM717178 CK429954 BX491503 BM984240 BX104531 BU676315 AA514458 BG622551 AW089662 AA173950 AA504821 BX642816 BX642834 BM756408 CA842137 BU738646 T16276 AI561264 BQ018682 AW292752 CA841843 AW118344
GeneLoc Exon Structure
5/10 Alternative Splicing Database (ASD) splice patterns (SP) for OFD1 (see all 10) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18 | ^ |
|---|
|
| SP1: | | | | | | | | | - | | | | - | | - | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | - | | | | |
| SP2: | | | | | | | | | - | | | | - | | - | | | | | | | | | | - | | | | | | | | | | | | - | | | | | | | | | | | | - | | | | |
| SP3: | | | | | | | | | - | | | | - | | - | | | | | | | | | | - | | | | | | | | | | - | | - | | | | | | | | | | | | - | | | | |
| SP4: | | | | | | | | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for OFD1
|
Expression
for OFD1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| OFD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTGCTGCCC
About this image
See OFD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for OFD1
SOURCE GeneReport for Unigene cluster: Hs.6483
UniProtKB/Swiss-Prot: OFD1_HUMAN, O75665Tissue specificity: Widely 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
SABiosciences Expression via Pathway-Focused PCR Array including OFD1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OFD1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat OFD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OFD1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OFD1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OFD1 |
Orthologs
for OFD1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for OFD1 gene from 5/19 species (see all 19) About this table
ENSEMBL Gene Tree for OFD1 (if available)
TreeFam Gene Tree for OFD1 (if available) |
Paralogs
for OFD1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for OFD1 gene
OFD1 for paralogs About GeneDecksing
5/17 Pseudogenes.org Pseudogenes for OFD1 (see all 17)
PGOHUM00000235564 PGOHUM00000233768 PGOHUM00000233773 PGOHUM00000233776 PGOHUM00000233803
|
Genomic Variants
for OFD1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for OFD1 (13752832 - 13787480 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for OFD1: --
Human Gene Mutation Database (HGMD): OFD1
Locus Specific Mutation Databases (LSDB): OFD1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OFD1 |
|
Disorders
/ Diseases
for OFD1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
OFD1 for disorders About GeneDecksing
OMIM gene information: 300170
OMIM disorders: 311200 300209 300804
UniProtKB/Swiss-Prot: OFD1_HUMAN, O75665
Defects in OFD1 are the cause of oral-facial-digital syndrome type 1 (OFD1) [MIM:311200]. OFD1 is a X-linkeddominant condition with lethality in males. The syndrome is characterized by clefts of the jaw and tongue in the areaof the lateral incisors and canines. Other features are malformations of the face and skull, malformation of the hands(specifically syndactyly, clinodactyly, brachydactyly and occasionally postaxial polydactyly) and mental retardation.OFD1 also causes polycystic kidney disease Defects in OFD1 are associated with Simpson-Golabi-Behmel syndrome type 2 (SGBS2) [MIM:300209]. SGBS2 is asevere variant of Simpson-Golabi-Behmel syndrome, a condition characterized by pre- and postnatal overgrowth(gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations Defects in OFD1 are the cause of Joubert syndrome type 10 (JBTS10) [MIM:300804]. A disorder presenting withcerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay.Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superiorcerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth ontransaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease
20/34  diseases for OFD1 (see all 34): About MalaCardsoral-facial-digital syndrome simpson-golabi-behmel syndrome simpson-golabi-behmel syndrome, type 2 oral-facial-digital syndrome type i
postaxial polydactyly mental retardation oculomotor apraxia familial juvenile hyperuricemic nephropathy focal dermal hypoplasia
asphyxiating thoracic dystrophy developmental disabilities apraxia joubert syndrome
hyperuricemic nephropathy orofaciodigital syndrome x inactivation mental retardation syndrome
aicardi syndrome intellectual disability polycystic kidney disease polydactyly
7 diseases from the University of Copenhagen DISEASES database for OFD1:Orofaciodigital syndrome Nephronophthisis Cystic kidney Polycystic kidney disease
Polydactyly Larsen syndrome Aicardi syndrome 2 Novoseek disease relationships for OFD1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| oral-facial-digital syndrome, type i |
99 |
1 |
11179005 (1) |
| developmental disabilities |
65.2 |
3 |
10395802 (1), 16311594 (1), 19876934 (1) |
GeneTests: OFD1
Oral-Facial-Digital Syndrome Type IJoubert Syndrome
Human Genome Epidemiology (HuGE) Navigator: OFD1 (3 documents)
Export disorders for OFD1 gene to outside databases
|
Publications
for OFD1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for OFD1 gene, integrated from 9 sources (see all 60):
(articles sorted by number of sources associating them with OFD1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. (PubMed id 9722947)1, 2, 3, 9 de Conciliis L.... Banfi S. (1998)
- Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex. (PubMed id 17761535)1, 2, 9 Giorgio G....Franco B. (2007)
- Identification of the gene for oral-facial-digital type I syndrome. (PubMed id 11179005)1, 2, 9 Ferrante M.I.... Franco B. (2001)
- Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. (PubMed id 11950863)1, 2, 9 Rakkolainen A.... Jaervelae I. (2002)
- A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. (PubMed id 16783569)1, 2, 9 Budny B.... Ropers H.-H. (2006)
- Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). (PubMed id 22619378)1, 3 Webb T.R....Hardcastle A.J. (2012)
- Ofd1, a human disease gene, regulates the length and distal structure of centrioles. (PubMed id 20230748)1, 2 Singla V....Reiter J.F. (2010)
- OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5- encoded lebercilin. (PubMed id 19800048)1, 2 Coene K.L.... de Brouwer A.P. (2009)
- Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. (PubMed id 16397067)1, 2 Thauvin-Robinet C.... Faivre L. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
|
External Searches for OFD1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing OFD1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing OFD1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing OFD1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for OFD1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OFD1 |
|
| | |
About This Section
| Patent Information for OFD1 gene:
Search GeneIP for patents involving OFD1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for OFD1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for OFD1 | | OriGene shRNA RFP for OFD1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OFD1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OFD1 | | | OriGene Protein Over-expression Lysate for OFD1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for OFD1 | | OriGene 3'-UTR Clone for OFD1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OFD1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OFD1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for OFD1 | | OriGene Custom Protein Services for OFD1 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat OFD1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OFD1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OFD1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OFD1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OFD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OFD1 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for OFD1 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | OFD1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OFD1 |
|  |  |  |  | | | | ThermoFisher Antibodies for OFD1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OFD1 |
| |  | |
|
|
|
