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This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Be... See more...
Aliases for OFD1 Gene
Aliases for OFD1 Gene
External Ids for OFD1 Gene
- HGNC: 2567
- Entrez Gene: 8481
- Ensembl: ENSG00000046651
- OMIM: 300170
- UniProtKB: O75665
Previous HGNC Symbols for OFD1 Gene
- CXorf5
- RP23
Previous GeneCards Identifiers for OFD1 Gene
- GC0XP012991
- GC0XP012572
- GC0XP013114
- GC0XP013512
- GC0XP013662
- GC0XP013752
- GC0XP011510
- GC0XP013715
Summaries for OFD1 Gene
-
This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]
GeneCards Summary for OFD1 Gene
OFD1 (OFD1 Centriole And Centriolar Satellite Protein) is a Protein Coding gene. Diseases associated with OFD1 include Orofaciodigital Syndrome I and Retinitis Pigmentosa 23. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include alpha-tubulin binding and gamma-tubulin binding.
UniProtKB/Swiss-Prot Summary for OFD1 Gene
-
Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By similarity).
Additional gene information for OFD1 Gene
- HGNC(2567)
- Entrez Gene(8481)
- Ensembl(ENSG00000046651)
- OMIM(300170)
- UniProtKB(O75665)
- Open Targets Platform(ENSG00000046651)
- Monarch Initiative
- Search for OFD1 at DataMed
- Search for OFD1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OFD1 Gene
Genomics for OFD1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for OFD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around OFD1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OFD1
- Top Transcription factor binding sites by QIAGEN in the OFD1 gene promoter:
-
- Evi-1
- FOXL1
- GR
- GR-alpha
- Lhx3a
- LHX3b
- NCX
- POU2F1
- POU2F1a
- RORalpha2
Genomic Locations for OFD1 Gene
Genomic Locations for OFD1 Gene
- chrX:13,734,713-13,773,978
- (GRCh38/hg38)
- Size:
- 39,266 bases
- Orientation:
- Plus strand
- chrX:13,752,832-13,787,480
- (GRCh37/hg19)
- Size:
- 34,649 bases
- Orientation:
- Plus strand
Genomic View for OFD1 Gene
Genes around OFD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp22.2 by HGNC
- Xp22.2 by Entrez Gene
- Xp22.2 by Ensembl
OFD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for OFD1 Gene
Proteins for OFD1 Gene
-
Protein details for OFD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O75665-OFD1_HUMAN
- Recommended name:
- Oral-facial-digital syndrome 1 protein
- Protein Accession:
- O75665
- B9ZVU5
- O75666
- Q4VAK4
Protein attributes for OFD1 Gene
- Size:
- 1012 amino acids
- Molecular mass:
- 116671 Da
- Quaternary structure:
-
- Homooligomer. Interacts with LCA5. Interacts with RUVBL1; the interaction is direct and may mediate interaction with the NuA4 histone acetyltransferase complex. Interacts with SDCCAG8; the interaction is direct. Interacts with MAP1LC3B. Interacts with C2CD3; OFD1 may act as a egative regulator of C2CD3. Forms a complex with KIAA0753/OFIP and CEP20/FOR20; the interaction with CEP20 is detected only in the presence of KIAA0753. Interacts with PCM1; this interaction may be mediated by KIAA0753/OFIP (PubMed:26643951).
Protein Expression for OFD1 Gene
Post-translational modifications for OFD1 Gene
Other Protein References for OFD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for OFD1
- Novus Biologicals Antibodies for OFD1
-
Abcam antibodies for OFD1
- Invitrogen Antibodies for OFD1 (AFLGC-OFD1)
-
Boster Bio Antibodies for OFD1
- Sino Biological Antibodies for OFD1
Protein Products
-
OriGene Purified Proteins for OFD1
- Search Origene for MassSpec and Protein Over-expression Lysates for OFD1
- Origene Custom Protein Services for OFD1
- Novus Biologicals proteins for OFD1
-
Abcam proteins for OFD1
No data available for DME Specific Peptides for OFD1 Gene
Domains & Families for OFD1 Gene
Gene Families for OFD1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for OFD1 Gene
Suggested Antigen Peptide Sequences for OFD1 Gene
- GenScript: Design optimal peptide antigens:
-
- Oral-facial-digital syndrome 1, isoform CRA_a (E9KL37_HUMAN)
- Protein 71-7A (OFD1_HUMAN)
- OFD1 protein (Q4G0Q0_HUMAN)
- OFD1 protein (Q4VAK3_HUMAN)
- OFD1 protein (Q6P668_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O75665- Family:
-
- Belongs to the OFD1 family.
Function for OFD1 Gene
Molecular function for OFD1 Gene
- UniProtKB/Swiss-Prot Function:
- Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By similarity).
Phenotypes From GWAS Catalog for OFD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 17761535 |
| GO:0042802 | identical protein binding | IPI | 17761535 |
| GO:0043014 | alpha-tubulin binding | ISS | -- |
| GO:0043015 | gamma-tubulin binding | ISS | -- |
Phenotypes for OFD1 Gene
- MGI mutant phenotypes for OFD1:
-
inferred from 2 alleles
- nervous system phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- growth/size/body region phenotype
- renal/urinary system phenotype
- digestive/alimentary phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for OFD1:
Animal Models for OFD1 Gene
- MGI Knock Outs for OFD1:
-
- Ofd1 Ofd1<tm1Bfra>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for OFD1 - Select products 50% OFF >
- * OFD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for OFD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for OFD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for OFD1
miRNA for OFD1 Gene
- miRTarBase miRNAs that target OFD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for OFD1
- Browse OriGene Inhibitory RNA Products For OFD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OFD1
Clone Products
- Applied Biological Materials (abm): Clones for OFD1 - Select products 50% OFF >
- * OFD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for OFD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for OFD1
Cell Line Products
-
Horizon Cell Lines for OFD1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for OFD1 Gene
Localization for OFD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for OFD1 Gene
- Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. 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}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 4 |
| cytosol | 4 |
| extracellular | 3 |
| plasma membrane | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Microtubules (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005813 | centrosome | IBA,IDA | 21399614 |
| GO:0005814 | centriole | IBA,IDA | 20230748 |
Pathways & Interactions for OFD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of PLK1 Activity at G2/M Transition |
.50
|
|
| 2 | Cell Cycle, Mitotic |
.83
|
|
| 3 | Organelle biogenesis and maintenance |
.56
|
|
| 4 | Signaling by Hedgehog | ||
| 5 | Signaling by GPCR | ||
Pathways by source for OFD1 Gene
16 Reactome pathways for OFD1 Gene
Interacting Proteins for OFD1 Gene
Selected Interacting proteins:
O75665-OFD1_HUMAN
ENSP00000344314
for OFD1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for OFD1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000086 | G2/M transition of mitotic cell cycle | TAS | -- |
| GO:0000278 | NOT mitotic cell cycle | ISS | -- |
| GO:0007099 | NOT centriole replication | ISS | -- |
| GO:0010389 | regulation of G2/M transition of mitotic cell cycle | TAS | -- |
| GO:0030030 | cell projection organization | IEA | -- |
Transcripts for OFD1 Gene
mRNA/cDNA for OFD1 Gene
- 3 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000340096 3612 nts (view in UCSC)
- ENST00000380550 3296 nts (view in UCSC)
- ENST00000380567 3736 nts (view in UCSC)
- ENST00000398395 3307 nts (view in UCSC)
- ENST00000464463 812 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for OFD1 - Select products 50% OFF >
- * OFD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for OFD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for OFD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for OFD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for OFD1
- Browse OriGene Inhibitory RNA Products For OFD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OFD1
Clone Products
- Applied Biological Materials (abm): Clones for OFD1 - Select products 50% OFF >
- * OFD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for OFD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for OFD1
| 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: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - |
| ExUns: | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||
| SP2: | |||||||||||||||||||||
| SP3: | |||||||||||||||||||||
| SP4: | |||||||||||||||||||||
| SP5: | |||||||||||||||||||||
| SP6: | |||||||||||||||||||||
| SP7: | - | - | |||||||||||||||||||
| SP8: | |||||||||||||||||||||
| SP9: | |||||||||||||||||||||
| SP10: |
Relevant External Links for OFD1 Gene
- GeneLoc Exon Structure for
- OFD1
Expression for OFD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
This gene is overexpressed in Fetal ovary (49.5) and Monocytes (10.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OFD1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OFD1
SOURCE GeneReport for Unigene cluster for OFD1 Gene:
Hs.6483mRNA Expression by UniProt/SwissProt for OFD1 Gene:
O75665-OFD1_HUMAN
Tissue 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.
Evidence on tissue expression from TISSUES for OFD1 Gene
- Liver(4.4)
- Blood(4.4)
- Nervous system(4.1)
- Eye(2.9)
- Kidney(2.7)
- Skin(2.3)
- Lung(2.2)
- Spleen(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for OFD1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cheek
- chin
- cranial nerve
- ear
- epiglottis
- eye
- eyelid
- face
- forehead
- head
- hypothalamus
- jaw
- larynx
- lip
- mandible
- maxilla
- meninges
- middle ear
- mouth
- neck
- nose
- olfactory bulb
- outer ear
- pharynx
- pituitary gland
- sinus
- skull
- tongue
- tooth
Thorax:
- breast
- bronchus
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
- trachea
Abdomen:
- abdominal wall
- intestine
- kidney
- liver
- spleen
Pelvis:
- ovary
- pelvis
- penis
- testicle
- ureter
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for OFD1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for OFD1 Gene
Orthologs for OFD1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | OFD1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | OFD1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ofd1 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | OFD1 30 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Ofd1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | OFD1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | OFD1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | OFD1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | OFD1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ofd1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ofd1 30 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for OFD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for OFD1 Gene
- ENSEMBL:
- Gene Tree for OFD1 (if available)
- TreeFam:
- Gene Tree for OFD1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for OFD1: view image
Paralogs for OFD1 Gene
Pseudogenes.org Pseudogenes for OFD1 Gene
No data available for Paralogs for OFD1 Gene
Variants for OFD1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OFD1 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638921 | Uncertain Significance: Joubert syndrome; Orofaciodigital syndrome I | 13,760,648(+) | T/A | MISSENSE_VARIANT | |
| 648352 | Uncertain Significance: Joubert syndrome; Orofaciodigital syndrome I | 13,756,633(+) | T/C | MISSENSE_VARIANT | |
| 661632 | Uncertain Significance: Joubert syndrome; Orofaciodigital syndrome I | 13,760,245(+) | A/G | SYNONYMOUS_VARIANT | |
| 679615 | Likely Benign: not provided | 13,767,336(+) | C/T | INTRON_VARIANT | |
| 680448 | Likely Benign: not provided | 13,735,053(+) | C/G | FIVE_PRIME_UTR_VARIANT |
Residual Variation Intolerance Score:
36.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.92;
35.77% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for OFD1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OFD1 Gene
Disorders for OFD1 Gene
(61) MalaCards diseases for OFD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| orofaciodigital syndrome i |
|
|
| retinitis pigmentosa 23 |
|
|
| joubert syndrome 10 |
|
|
| simpson-golabi-behmel syndrome, type 2 |
|
|
| orofaciodigital syndrome iii |
|
|
Search OFD1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
OFD1_HUMAN- Orofaciodigital syndrome 1 (OFD1) [MIM:311200]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD1 is X-linked dominant syndrome, lethal in males. Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue anomalies (clefting, cysts, hamartoma), and anomalous dentition involving missing or extra teeth. Asymmetric brachydactyly and/or syndactyly of the fingers and toes occur frequently. Approximately 50% of OFD1 females have some degree of intellectual disability. Some patients have structural central nervous system anomalies such as agenesis of the corpus callosum, cerebellar agenesis, or a Dandy-Walker malformation. Patients with OFD1 can develop fibrocystic disease of the liver and pancreas, in addition to polycystic kidneys. {ECO:0000269 PubMed:11179005, ECO:0000269 PubMed:11950863, ECO:0000269 PubMed:12595504, ECO:0000269 PubMed:16397067, ECO:0000269 PubMed:23033313}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Simpson-Golabi-Behmel syndrome 2 (SGBS2) [MIM:300209]: A severe 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. {ECO:0000269 PubMed:16783569}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
- Joubert syndrome 10 (JBTS10) [MIM:300804]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269 PubMed:19800048, ECO:0000269 PubMed:26477546}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Retinitis pigmentosa 23 (RP23) [MIM:300424]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:22619378}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
Additional Disease Information for OFD1
- Genetic Association Database
- (GAD)
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- (HuGE)
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No data available for Genatlas for OFD1 Gene
Publications for OFD1 Gene
- Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. (PMID: 9722947) de Conciliis L … Banfi S (Genomics 1998) 2 3 4 23
- Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). (PMID: 22619378) Webb TR … Hardcastle AJ (Human molecular genetics 2012) 2 3 4
- Ofd1, a human disease gene, regulates the length and distal structure of centrioles. (PMID: 20230748) Singla V … Reiter JF (Developmental cell 2010) 2 3 4
- Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex. (PMID: 17761535) Giorgio G … Franco B (Molecular biology of the cell 2007) 3 4 23
- A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. (PMID: 16783569) Budny B … Ropers HH (Human genetics 2006) 3 4 23
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