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Aliases for OFCC1 Gene

Aliases for OFCC1 Gene

  • Orofacial Cleft 1 Candidate 1 2 3
  • MRDS1 3 4 6
  • Orofacial Clefting Chromosomal Breakpoint Region Candidate 1 Protein 3 4
  • Orofacial Cleft 1 Candidate Gene 1 Protein 3

External Ids for OFCC1 Gene

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 chronic tic disorder 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

Genomic Location for OFCC1 Gene

Start:
9,596,110 bp from pter
End:
10,211,608 bp from pter
Size:
615,499 bases
Orientation:
Minus strand

Genomic View for OFCC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OFCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OFCC1 Gene

Regulatory Elements for OFCC1 Gene

Proteins for OFCC1 Gene

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

    Protein Symbol:
    Q8IZS5-OFCC1_HUMAN
    Recommended name:
    Orofacial cleft 1 candidate gene 1 protein
    Protein Accession:
    Q8IZS5
    Secondary Accessions:
    • Q7Z2X5
    • Q8IUL6
    • Q8IUM1
    • Q8IZR9
    • Q8IZS1
    • Q8IZS3

    Protein attributes for OFCC1 Gene

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

    Alternative splice isoforms for OFCC1 Gene

    UniProtKB/Swiss-Prot:

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 for OFCC1 Gene

Protein Domains for OFCC1 Gene

ProtoNet:
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

Gene Ontology (GO) - Molecular Function for OFCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23455924
genes like me logo Genes that share ontologies with OFCC1: view

Phenotypes for OFCC1 Gene

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

miRNA for OFCC1 Gene

miRTarBase miRNAs that target OFCC1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for OFCC1 Gene

Localization for OFCC1 Gene

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for OFCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005783 endoplasmic reticulum --
GO:0005829 cytosol --
GO:0015630 microtubule cytoskeleton --
GO:0048471 perinuclear region of cytoplasm --
genes like me logo Genes that share ontologies with OFCC1: view

Pathways 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)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000419718%0d%0a9606.ENSP00000403397%0d%0a
Selected Interacting proteins: ENSP00000419718 Q8IZS5-OFCC1_HUMAN for OFCC1 Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for OFCC1 Gene

None

No data available for Pathways by source for OFCC1 Gene

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
OFCC1
ECgene alternative splicing isoforms for
OFCC1

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 (32.3).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for OFCC1 Gene

SOURCE GeneReport for Unigene cluster for OFCC1 Gene Hs.532138

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

Orthologs for OFCC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OFCC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OFCC1 36
  • 99.09 (n)
  • 97.81 (a)
OFCC1 37
  • 61 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OFCC1 36
  • 83.59 (n)
  • 76.65 (a)
OFCC1 37
  • 48 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC609660 36
  • 79.98 (n)
  • 72.37 (a)
OFCC1 37
  • 25 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ofcc1 36
  • 77.48 (n)
  • 67.32 (a)
Ofcc1 16
Ofcc1 37
  • 19 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OFCC1 37
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OFCC1 37
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859006 36
  • 89.28 (n)
  • 79.13 (a)
OFCC1 37
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 11 (a)
OneToMany
-- 37
  • 44 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732008 36
  • 62.73 (n)
  • 53.2 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101883978 36
  • 55.88 (n)
  • 48.79 (a)
OFCC1 (1 of 2) 37
  • 9 (a)
OneToMany
OFCC1 (2 of 2) 37
  • 4 (a)
OneToMany
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

ENSEMBL:
Gene Tree for OFCC1 (if available)
TreeFam:
Gene Tree for OFCC1 (if available)

Paralogs for OFCC1 Gene

Selected 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 MAF
rs17509 -- 10,067,770(-) ATCCA(A/T)AATTG intron-variant
rs175635 -- 10,013,234(-) AGCTC(C/T)CTCCT intron-variant
rs201224 -- 10,032,199(-) TAAGA(A/G)GTTTC intron-variant
rs201225 -- 10,031,861(-) GTTAA(A/G)TAACG intron-variant
rs201226 -- 10,029,725(+) GGGGG(A/G)AAAAT intron-variant

Relevant External Links for OFCC1 Gene

HapMap Linkage Disequilibrium report
OFCC1

No data available for Structural Variations from Database of Genomic Variants (DGV) for OFCC1 Gene

Disorders for OFCC1 Gene

UniProtKB/Swiss-Prot

OFCC1_HUMAN
  • Note=A chromosomal aberration involving OFCC1 is found in patients with orofacial cleft.

(2) University of Copenhagen DISEASES for OFCC1 Gene

Relevant External Links for OFCC1

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

Publications for OFCC1 Gene

  1. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PMID: 19367581) So H.C. … Sham P.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 49
  2. Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region. (PMID: 15218257) Davies S.J. … Ragoussis J. (Cytogenet. Genome Res. 2004) 3 4
  3. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. (PMID: 22479202) Dastani Z. … Kathiresan S. (PLoS Genet. 2012) 3 49
  4. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3 4
  5. 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

Products for OFCC1 Gene

Sources for OFCC1 Gene

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