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Ofcc1 orofacial cleft 1 candidate 1 [ Mus musculus (house mouse) ]

Gene ID: 218165, updated on 5-Mar-2024

Summary

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Official Symbol
Ofcc1provided by MGI
Official Full Name
orofacial cleft 1 candidate 1provided by MGI
Primary source
MGI:MGI:2658851
See related
Ensembl:ENSMUSG00000047094 AllianceGenome:MGI:2658851
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
opo
Summary
Located in several cellular components, including endoplasmic reticulum; microtubule cytoskeleton; and perinuclear region of cytoplasm. Is expressed in several structures, including branchial arch; embryo mesenchyme; musculoskeletal system; nervous system; and sensory organ. Orthologous to human OFCC1 (orofacial cleft 1 candidate 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
human all
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Genomic context

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See Ofcc1 in Genome Data Viewer
Location:
13 A3.3; 13 19.45 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (40155358..40529793, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (40001882..40288011, complement)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene VISTA enhancer mm1403 Neighboring gene predicted gene, 23972 Neighboring gene STARR-seq mESC enhancer starr_34267 Neighboring gene STARR-seq mESC enhancer starr_34268 Neighboring gene STARR-seq mESC enhancer starr_34269 Neighboring gene predicted gene, 40924 Neighboring gene STARR-seq mESC enhancer starr_34271 Neighboring gene predicted gene, 57604 Neighboring gene STARR-seq mESC enhancer starr_34272 Neighboring gene REX4, RNA exonuclease 4 homolog pseudogene Neighboring gene 40S ribosomal protein S10 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Ablation of Mrds1/Ofcc1 induces hyper-γ-glutamyl transpeptidasemia without abnormal head development and schizophrenia-relevant behaviors in mice. Ohnishi T, et al. PLoS One, 2011. PMID 22242126, Free PMC Article
  2. Cloning and transcriptional regulation of a novel adipocyte-specific gene, FSP27. CAAT-enhancer-binding protein (C/EBP) and C/EBP-like proteins interact with sequences required for differentiation-dependent expression. Danesch U, et al. J Biol Chem, 1992 Apr 5. PMID 1339452
  3. Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region. Davies SJ, et al. Cytogenet Genome Res, 2004. PMID 15218257
  4. Cloning of mouse ojoplano, a reticular cytoplasmic protein expressed during embryonic development. Mertes F, et al. Gene Expr Patterns, 2009 Dec. PMID 19766735
  5. Fabp7 maps to a quantitative trait locus for a schizophrenia endophenotype. Watanabe A, et al. PLoS Biol, 2007 Nov. PMID 18001149, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Disruption of the Mrds1/Ofcc1 gene elicits asymptomatic hyper-gamma-glutamyl-transpeptidasemia in mice.
    Title: Ablation of Mrds1/Ofcc1 induces hyper-γ-glutamyl transpeptidasemia without abnormal head development and schizophrenia-relevant behaviors in mice.
  2. Opo shows homology to human transcripts linked to a hereditary craniofacial malformation, orofacial cleft 1 (OFC1). The expression of mouse Opo in neural crest derivatives and skull elements further supports this link.
    Title: Cloning of mouse ojoplano, a reticular cytoplasmic protein expressed during embryonic development.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (1) 

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
orofacial cleft 1 candidate gene 1 protein homolog
Names
ojoplano
orofacial clefting chromosomal breakpoint region candidate 1 protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_172143.2 → NP_742155.2  orofacial cleft 1 candidate gene 1 protein homolog

    See identical proteins and their annotated locations for NP_742155.2

    Status: VALIDATED

    Source sequence(s)
    EU683438
    Consensus CDS
    CCDS49241.1
    UniProtKB/TrEMBL
    C3S7Q5
    Related
    ENSMUSP00000062217.8, ENSMUST00000054635.8
    Conserved Domains (1) summary
    pfam15680
    Location:5 → 113
    OFCC1; Orofacial cleft 1 candidate gene 1 protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    40155358..40529793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036157987.1 → XP_036013880.1  orofacial cleft 1 candidate gene 1 protein homolog isoform X1

    UniProtKB/TrEMBL
    C3S7Q5
    Conserved Domains (1) summary
    pfam15680
    Location:5 → 113
    OFCC1; Orofacial cleft 1 candidate gene 1 protein
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BGX4.1 GenPept UniProtKB/Swiss-Prot:Q8BGX4

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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