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Aliases for OFD1 Gene

Aliases for OFD1 Gene

  • Oral-Facial-Digital Syndrome 1 2 3 5
  • Protein 71-7A 3 4
  • CXorf5 3 4
  • Retinitis Pigmentosa 23 (X-Linked Recessive) 2
  • JBTS10 3
  • 71-7A 3
  • SGBS2 3
  • RP23 3

External Ids for OFD1 Gene

Previous HGNC Symbols for OFD1 Gene

  • CXorf5
  • RP23

Previous GeneCards Identifiers for OFD1 Gene

  • GC0XP012991
  • GC0XP012572
  • GC0XP013114
  • GC0XP013512
  • GC0XP013662
  • GC0XP011510

Summaries for OFD1 Gene

Entrez Gene Summary 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. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for OFD1 Gene

OFD1 (Oral-Facial-Digital Syndrome 1) is a Protein Coding gene. Diseases associated with OFD1 include orofaciodigital syndrome i and simpson-golabi-behmel syndrome, type 2. Among its related pathways are Signaling by GPCR and Cell Cycle, Mitotic. GO annotations related to this gene include alpha-tubulin binding and gamma-tubulin binding.

UniProtKB/Swiss-Prot 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).

Gene Wiki entry for OFD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OFD1 Gene

Genomics for OFD1 Gene

Regulatory Elements for OFD1 Gene

Genomic Location for OFD1 Gene

Chromosome:
X
Start:
13,715,423 bp from pter
End:
13,771,402 bp from pter
Size:
55,980 bases
Orientation:
Plus strand

Genomic View for OFD1 Gene

Genes around OFD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OFD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OFD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.

    Alternative splice isoforms for OFD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OFD1 Gene

Proteomics data for OFD1 Gene at MOPED

Post-translational modifications for OFD1 Gene

  • Ubiquitination at Lys 37, Lys 104, and Lys 125
  • Modification sites at PhosphoSitePlus

Other Protein References for OFD1 Gene

No data available for DME Specific Peptides for OFD1 Gene

Domains & Families for OFD1 Gene

Protein Domains for OFD1 Gene

Graphical View of Domain Structure for InterPro Entry

O75665

UniProtKB/Swiss-Prot:

OFD1_HUMAN :
  • Contains 1 LisH domain.
  • Belongs to the OFD1 family.
Domain:
  • Contains 1 LisH domain.
Family:
  • Belongs to the OFD1 family.
genes like me logo Genes that share domains with OFD1: view

No data available for Gene Families for OFD1 Gene

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).

Gene Ontology (GO) - Molecular Function for OFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043015 gamma-tubulin binding ISS --
genes like me logo Genes that share ontologies with OFD1: view
genes like me logo Genes that share phenotypes with OFD1: view

Human Phenotype Ontology for OFD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OFD1 Gene

MGI Knock Outs for OFD1:

Animal Model Products

miRNA for OFD1 Gene

miRTarBase miRNAs that target 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).

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OFD1 Gene COMPARTMENTS Subcellular localization image for OFD1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4

Gene Ontology (GO) - Cellular Components for OFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005814 centriole IDA 20230748
GO:0015630 microtubule cytoskeleton IDA --
GO:0034451 centriolar satellite ISS --
genes like me logo Genes that share ontologies with OFD1: view

Pathways & Interactions for OFD1 Gene

genes like me logo Genes that share pathways with OFD1: view

Gene Ontology (GO) - Biological Process for OFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007067 NOT mitotic nuclear division ISS --
GO:0090307 NOT mitotic spindle assembly ISS --
genes like me logo Genes that share ontologies with OFD1: view

No data available for SIGNOR curated interactions for OFD1 Gene

Drugs & Compounds for OFD1 Gene

No Compound Related Data Available

Transcripts for OFD1 Gene

Unigene Clusters for OFD1 Gene

Oral-facial-digital syndrome 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OFD1 Gene

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
ECgene alternative splicing isoforms for
OFD1

Expression for OFD1 Gene

mRNA expression in normal human tissues for OFD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for OFD1 Gene

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, PaxDb, MOPED, and MaxQB for OFD1 Gene



SOURCE GeneReport for Unigene cluster for OFD1 Gene Hs.6483

mRNA 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.
genes like me logo Genes that share expression patterns with OFD1: view

Protein tissue co-expression partners for OFD1 Gene

Primer Products

In Situ 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.

Orthologs for OFD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OFD1 35
  • 99.62 (n)
  • 99.48 (a)
OFD1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 63 (a)
OneToMany
OFD1 36
  • 70 (a)
OneToMany
OFD1 35
  • 78.28 (n)
  • 72.19 (a)
dog
(Canis familiaris)
Mammalia OFD1 35
  • 81.89 (n)
  • 74.75 (a)
OFD1 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ofd1 16
Ofd1 35
  • 77.58 (n)
  • 67.37 (a)
Ofd1 36
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OFD1 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OFD1 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ofd1 35
  • 78.4 (n)
  • 70.29 (a)
chicken
(Gallus gallus)
Aves OFD1 35
  • 60.68 (n)
  • 52.64 (a)
OFD1 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OFD1 36
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ofd1 35
  • 55.17 (n)
  • 43.98 (a)
zebrafish
(Danio rerio)
Actinopterygii ofd1 36
  • 36 (a)
OneToOne
ofd1 35
  • 54.08 (n)
  • 44.35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
OneToOne
Species with no ortholog for OFD1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for OFD1 Gene

genes like me logo Genes that share paralogs with OFD1: view

No data available for Paralogs for OFD1 Gene

Variants for OFD1 Gene

Sequence variations from dbSNP and Humsavar for OFD1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_013754 Orofaciodigital syndrome 1 (OFD1)
VAR_015574 Orofaciodigital syndrome 1 (OFD1)
VAR_030789 Orofaciodigital syndrome 1 (OFD1)
VAR_058758 Orofaciodigital syndrome 1 (OFD1)
VAR_069100 Orofaciodigital syndrome 1 (OFD1)

Structural Variations from Database of Genomic Variants (DGV) for OFD1 Gene

Variant ID Type Subtype PubMed ID
nsv528634 CNV Gain 19592680

Variation tolerance for OFD1 Gene

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)

Relevant External Links for OFD1 Gene

HapMap Linkage Disequilibrium report
OFD1
Human Gene Mutation Database (HGMD)
OFD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OFD1 Gene

Disorders for OFD1 Gene

MalaCards: The human disease database

(23) MalaCards diseases for OFD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
orofaciodigital syndrome i
  • orofaciodigital syndrome 1
simpson-golabi-behmel syndrome, type 2
  • sgbs2
retinitis pigmentosa 23
  • rp 23
joubert syndrome 10
  • jbts10
joubert syndrome with orofaciodigital defect
  • orofaciodigital syndrome vi
- elite association - COSMIC cancer census association via MalaCards
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.

Relevant External Links for OFD1

Genetic Association Database (GAD)
OFD1
Human Genome Epidemiology (HuGE) Navigator
OFD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OFD1
genes like me logo Genes that share disorders with OFD1: view

No data available for Genatlas for OFD1 Gene

Publications for OFD1 Gene

  1. 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 67
  2. 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 T.R. … Hardcastle A.J. (Hum. Mol. Genet. 2012) 2 3
  3. Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. (PMID: 19023858) Thauvin-Robinet C. … Faivre L. (Hum. Mutat. 2009) 3 23
  4. Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I. (PMID: 18177199) Romero M. … Romance A. (Cleft Palate Craniofac. J. 2007) 3 23
  5. 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. (Mol. Biol. Cell 2007) 3 23

Products for OFD1 Gene

Sources for OFD1 Gene

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