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    C18orf1 chromosome 18 open reading frame 1 [ Homo sapiens ]

    Gene ID: 753, updated on 11-May-2012
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    Summary

    Official Symbol
    C18orf1provided by HGNC
    Official Full Name
    chromosome 18 open reading frame 1provided by HGNC
    Primary source
    HGNC:1224
    See related
    Ensembl:ENSG00000168675; HPRD:07358; MIM:606571
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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    Genomic context

    Location :
    18p11.21
    Sequence :
    Chromosome: 18; NC_000018.9 (13218786..13652753)
    See C18orf1 in Epigenomics, MapViewer

    Chromosome 18 - NC_000018.9Genomic Context describing neighboring genes Neighboring gene WD repeat domain 89 pseudogene Neighboring gene mRNA turnover 4 homolog (S. cerevisiae) pseudogene Neighboring gene uncharacterized LOC100288122 Neighboring gene microRNA 4526 Neighboring gene family with sequence similarity 210, member A Neighboring gene RNA (guanine-7-) methyltransferase

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    2. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. Wheeler HE, et al. PLoS Genet, 2009 Oct. PMID 19834535.
    3. Genome-wide association study of blood pressure and hypertension. Levy D, et al. Nat Genet, 2009 Jun. PMID 19430479.
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965.
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560.

    See all (12) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
    3. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study of blood pressure and hypertension.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    integral to membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    uncharacterized protein C18orf1
    Names
    uncharacterized protein C18orf1
    clone 22
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    NCBI Reference Sequences (RefSeq)

    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_001003674.2 → NP_001003674.1  uncharacterized protein C18orf1 isoform gamma 1

      Status: VALIDATED

      Source sequence(s)
      AF009426, AP001010, BC066971, DA369876
      Consensus CDS
      CCDS32795.1
      UniProtKB/Swiss-Prot
      O15165
      Related
      ENSP00000352420, ENST00000359446

    2. NM_001003675.2 → NP_001003675.1  uncharacterized protein C18orf1 isoform gamma 2

      Status: VALIDATED

      Source sequence(s)
      AF009426, AP001010, BC030199, BC066971, DA369876
      Consensus CDS
      CCDS42415.1
      UniProtKB/TrEMBL
      E9PAY9
      UniProtKB/Swiss-Prot
      O15165
      Related
      ENSP00000382740, ENST00000399847

    3. NM_004338.3 → NP_004329.1  uncharacterized protein C18orf1 isoform beta 1

      Status: VALIDATED

      Source sequence(s)
      AF009426, AP001010, BC066971
      Consensus CDS
      CCDS45833.1
      UniProtKB/Swiss-Prot
      O15165
      Related
      ENSP00000354559, ENST00000361303

    4. NM_181481.3 → NP_852146.1  uncharacterized protein C18orf1 isoform alpha 1

      Status: VALIDATED

      Source sequence(s)
      AF009424, AF009426, AP001010, BC030199, BC066971, DB272592
      Consensus CDS
      CCDS32793.1
      UniProtKB/Swiss-Prot
      O15165
      Related
      ENSP00000354753, ENST00000361205
      Conserved Domains (1) summary
      cd00112
      Location:16 – 47
      Blast Score: 109
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    5. NM_181482.3 → NP_852147.1  uncharacterized protein C18orf1 isoform alpha 2

      Status: VALIDATED

      Source sequence(s)
      AF009426, AP001010, BC030199, BC066971, DB272592
      Consensus CDS
      CCDS32794.1
      UniProtKB/Swiss-Prot
      O15165
      Related
      ENSP00000382741, ENST00000399848
      Conserved Domains (1) summary
      cd00112
      Location:16 – 47
      Blast Score: 110
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    6. NM_181483.3 → NP_852148.1  uncharacterized protein C18orf1 isoform beta 2

      Status: VALIDATED

      Source sequence(s)
      AF009426, AF009427, AP001010, BC066971
      Consensus CDS
      CCDS45834.1
      UniProtKB/Swiss-Prot
      O15165
      Related
      ENSP00000405918, ENST00000435606

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000018.9 Reference GRCh37.p5 Primary Assembly

      Range
      13218786..13652753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000150.1 Alternate HuRef

      Range
      13172372..13607009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF009428.1 None
    genomic AF009429.1 None
    genomic AF009430.1 None
    genomic AF009431.1 None
    genomic AF009432.1 None
    genomic AF009433.1 None
    genomic AF009434.1 None
    genomic AF009435.1 None
    genomic AF009436.1 None
    genomic AF009437.1 None
    genomic AP001010.4 (71076..157945) None
    genomic AP002439.3 (76472..188603) None
    genomic AP002505.3 (35322..169229) None
    genomic AP005131.2 (61070..162118) None
    genomic CH471113.2 EAX01511.1
      EAX01512.1
      EAX01513.1
      EAX01514.1
    genomic JA738551.1 CCF76928.1
    genomic JA738553.1 CCF76929.1
    genomic JA738555.1 CCF76930.1
    genomic JA738557.1 CCF76931.1
    genomic JA738559.1 CCF76932.1
    genomic JA738561.1 CCF76933.1
    mRNA AA310737.1 None
    mRNA AF009424.1 AAC52023.1
    mRNA AF009425.1 AAC52024.1
    mRNA AF009426.1 AAC52025.1
    mRNA AF009427.1 AAC52026.1
    mRNA AK023474.1 None
    mRNA AK055028.1 BAG51451.1
    mRNA AK291574.1 BAF84263.1
    mRNA BC029958.1 None
    mRNA BC030199.1 AAH30199.1
    mRNA BC047093.1 None
    mRNA BC066971.1 AAH66971.1
    mRNA BM917439.1 None
    mRNA DA369876.1 None
    mRNA DB272592.1 None
    mRNA H04910.1 None
    mRNA N48737.1 None
    other-genetic HQ447439.1 ADQ31925.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15165.1 GenPept UniProtKB/Swiss-Prot:O15165
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    Additional Links

    Gene LinkOut

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

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