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Aliases for OFCC1 Gene

Aliases for OFCC1 Gene

  • Orofacial Cleft 1 Candidate 1 2 3 5
  • Orofacial Clefting Chromosomal Breakpoint Region Candidate 1 Protein 3 4
  • MRDS1 3 4

External Ids for OFCC1 Gene

Previous GeneCards Identifiers for OFCC1 Gene

  • GC06M009768
  • GC06M009813
  • GC06M009815

Summaries for OFCC1 Gene

GeneCards Summary for OFCC1 Gene

OFCC1 (Orofacial Cleft 1 Candidate 1) is a Protein Coding gene. Diseases associated with OFCC1 include Orofacial Cleft and Tic Disorder.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OFCC1 Gene

Genomics for OFCC1 Gene

Regulatory Elements for OFCC1 Gene

Enhancers for OFCC1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around OFCC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for OFCC1 Gene

9,596,110 bp from pter
10,211,608 bp from pter
615,499 bases
Minus strand

Genomic View for OFCC1 Gene

Genes around OFCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OFCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OFCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OFCC1 Gene

Proteins for OFCC1 Gene

  • Protein details for OFCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Orofacial cleft 1 candidate gene 1 protein
    Protein Accession:
    Secondary Accessions:
    • Q7Z2X5
    • Q8IUL6
    • Q8IUM1
    • Q8IZR9
    • Q8IZS1
    • Q8IZS3

    Protein attributes for OFCC1 Gene

    231 amino acids
    Molecular mass:
    26754 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for OFCC1 Gene


neXtProt entry for OFCC1 Gene

Proteomics data for OFCC1 Gene at MOPED

Post-translational modifications for OFCC1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for OFCC1 Gene

Domains & Families for OFCC1 Gene

Protein Domains for OFCC1 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with OFCC1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for OFCC1 Gene

Function for OFCC1 Gene

genes like me logo Genes that share phenotypes with OFCC1: view

Animal Models for OFCC1 Gene

MGI Knock Outs for OFCC1:

miRNA for OFCC1 Gene

miRTarBase miRNAs that target OFCC1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for OFCC1 Gene

Localization for OFCC1 Gene

Subcellular locations from

Jensen Localization Image for OFCC1 Gene COMPARTMENTS Subcellular localization image for OFCC1 gene
Compartment Confidence
plasma membrane 3
nucleus 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for OFCC1 Gene

Pathways & Interactions for OFCC1 Gene

SuperPathways for OFCC1 Gene

No Data Available

Interacting Proteins for OFCC1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000419718 Q8IZS5-OFCC1_HUMAN for OFCC1 Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for OFCC1 Gene


No data available for Pathways by source and SIGNOR curated interactions for OFCC1 Gene

Drugs & Compounds for OFCC1 Gene

No Compound Related Data Available

Transcripts for OFCC1 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for OFCC1 Gene

No ASD Table

Relevant External Links for OFCC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OFCC1 Gene

mRNA expression in normal human tissues for OFCC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OFCC1 Gene

This gene is overexpressed in Testis (x32.3).

Protein differential expression in normal tissues from HIPED for OFCC1 Gene

This gene is overexpressed in Nasal epithelium (63.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OFCC1 Gene

SOURCE GeneReport for Unigene cluster for OFCC1 Gene Hs.532138

genes like me logo Genes that share expression patterns with OFCC1: view

Protein tissue co-expression partners for OFCC1 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for OFCC1 Gene

Orthologs for OFCC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OFCC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia OFCC1 35
  • 83.59 (n)
  • 76.65 (a)
OFCC1 36
  • 48 (a)
(Canis familiaris)
Mammalia LOC609660 35
  • 79.98 (n)
  • 72.37 (a)
OFCC1 36
  • 25 (a)
(Mus musculus)
Mammalia Ofcc1 35
  • 77.48 (n)
  • 67.32 (a)
Ofcc1 16
Ofcc1 36
  • 19 (a)
(Pan troglodytes)
Mammalia OFCC1 35
  • 99.09 (n)
  • 97.81 (a)
OFCC1 36
  • 61 (a)
(Monodelphis domestica)
Mammalia OFCC1 36
  • 58 (a)
(Ornithorhynchus anatinus)
Mammalia OFCC1 36
  • 46 (a)
(Gallus gallus)
Aves LOC100859006 35
  • 89.28 (n)
  • 79.13 (a)
OFCC1 36
  • 46 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 11 (a)
-- 36
  • 44 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732008 35
  • 62.73 (n)
  • 53.2 (a)
(Danio rerio)
Actinopterygii LOC101883978 35
  • 55.88 (n)
  • 48.79 (a)
OFCC1 (1 of 2) 36
  • 9 (a)
OFCC1 (2 of 2) 36
  • 4 (a)
Species with no ortholog for OFCC1:
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 OFCC1 Gene

Gene Tree for OFCC1 (if available)
Gene Tree for OFCC1 (if available)

Paralogs for OFCC1 Gene

(1) SIMAP similar genes for OFCC1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with OFCC1: view

No data available for Paralogs for OFCC1 Gene

Variants for OFCC1 Gene

Sequence variations from dbSNP and Humsavar for OFCC1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_043621 -
VAR_043622 -
VAR_043623 -
rs1101828 -- 9,814,854(+) attgt(A/T)tatct intron-variant
rs1101829 -- 9,814,871(+) cccca(C/T)tgtct intron-variant

Variation tolerance for OFCC1 Gene

Gene Damage Index Score: 8.27; 85.12% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for OFCC1 Gene

Disorders for OFCC1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for OFCC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
orofacial cleft
tic disorder
chronic tic disorder
  • chronic motor or vocal tic disorder
- elite association - COSMIC cancer census association via MalaCards
Search OFCC1 in MalaCards View complete list of genes associated with diseases


  • Note=A chromosomal aberration involving OFCC1 is found in patients with orofacial cleft. {ECO:0000269 PubMed:15218257}.

Relevant External Links for OFCC1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with OFCC1: view

No data available for Genatlas for OFCC1 Gene

Publications for OFCC1 Gene

  1. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3 4 67
  2. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  3. Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. (PMID: 24159190) SeppAolAo I. … LehtimAoki T. (Eur. Heart J. 2014) 3
  4. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. (PMID: 24705354) Butland S.L. … Hayden M.R. (Hum. Mol. Genet. 2014) 3
  5. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (PMID: 23377640) (Am J Psychiatry 2013) 3

Products for OFCC1 Gene

Sources for OFCC1 Gene