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OFCC1 orofacial cleft 1 candidate 1 [ Homo sapiens (human) ]

Gene ID: 266553, updated on 5-Mar-2024

Summary

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Official Symbol
OFCC1provided by HGNC
Official Full Name
orofacial cleft 1 candidate 1provided by HGNC
Primary source
HGNC:HGNC:21017
See related
MIM:614287; AllianceGenome:HGNC:21017
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Opo; MRDS1
Summary
Predicted to be located in cytosol; endoplasmic reticulum; and microtubule cytoskeleton. Predicted to be active in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See OFCC1 in Genome Data Viewer
Location:
6p24.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (9704978..10211608, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (9573688..10079948, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (9705211..10211841, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901255 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:9405051-9406250 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:9456335-9456986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23964 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:9614589-9615788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23965 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:9648237-9649436 Neighboring gene uncharacterized LOC124901484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16898 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:9810687-9811203 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:9811204-9811719 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:9971388-9971998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:9971999-9972609 Neighboring gene uncharacterized LOC105374919 Neighboring gene MPRA-validated peak5651 silencer Neighboring gene uncharacterized LOC124900218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:10134047-10134548 Neighboring gene uncharacterized LOC105374918 Neighboring gene ribosomal protein L7a pseudogene 36 Neighboring gene RNA, U6atac small nuclear 21, pseudogene Neighboring gene ribosomal protein L21 pseudogene 62

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD. Guo Y, et al. Neurosci Lett, 2012 May 23. PMID 22507240
  2. 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
  3. Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. Lunetta KL, et al. BMC Med Genet, 2007 Sep 19. PMID 17903295, Free PMC Article
  4. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. Dastani Z, et al. PLoS Genet, 2012. PMID 22479202, Free PMC Article
  5. Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. O'Seaghdha CM, et al. Hum Mol Genet, 2010 Nov 1. PMID 20705733, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Found OFCC1 R129G variant is probably a rare cause of Tourette syndrome/chronic tic phenotype in Chinese Han patients.
    Title: Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Web-based, participant-driven studies yield novel genetic associations for common traits.
  3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
EBI GWAS Catalog
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
EBI GWAS Catalog
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
EBI GWAS Catalog
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Other Names

  • orofacial cleft 1 candidate gene 1 protein
  • orofacial clefting chromosomal breakpoint region candidate 1 protein

Clone Names

  • MGC142101, MGC142103

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

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.

RNA

  1. NR_170155.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL021332, AL139332, AL159986, AL354868

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    9704978..10211608 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    9573688..10079948 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_153003.1: Suppressed sequence

    Description
    NM_153003.1: This RefSeq was permanently suppressed because the CDS appears to be partial.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IZS5.1 GenPept UniProtKB/Swiss-Prot:Q8IZS5

Gene LinkOut

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

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