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    C3orf80 chromosome 3 open reading frame 80 [ Homo sapiens (human) ]

    Gene ID: 401097, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C3orf80provided by HGNC
    Official Full Name
    chromosome 3 open reading frame 80provided by HGNC
    Primary source
    HGNC:HGNC:40048
    See related
    Ensembl:ENSG00000180044 AllianceGenome:HGNC:40048
    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
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    mouse all
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    Genomic context

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    See C3orf80 in Genome Data Viewer
    Location:
    3q25.33
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (160225422..160228213)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (163000019..163002810)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (159943209..159946000)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene IL12A antisense RNA 1 Neighboring gene uncharacterized LOC124906252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:159756960-159757562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:159794247-159794746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:159815928-159816428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:159816429-159816929 Neighboring gene Sharpr-MPRA regulatory region 6612 Neighboring gene bromodomain containing 7 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:159896251-159896847 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:159896848-159897443 Neighboring gene Sharpr-MPRA regulatory region 14309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14854 Neighboring gene TRIM59-IFT80 readthrough (NMD candidate) Neighboring gene intraflagellar transport 80 Neighboring gene ribosomal protein L35a pseudogene 10 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:160117119-160117481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14855 Neighboring gene microRNA 15b Neighboring gene structural maintenance of chromosomes 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized membrane protein C3orf80

    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_001168214.2 → NP_001161686.1  uncharacterized membrane protein C3orf80 precursor

      See identical proteins and their annotated locations for NP_001161686.1

      Status: VALIDATED

      Source sequence(s)
      AC112641
      Consensus CDS
      CCDS54667.1
      UniProtKB/Swiss-Prot
      F5H4A9, Q8N5S4
      Related
      ENSP00000313324.3, ENST00000326474.5
      Conserved Domains (1) summary
      pfam15843
      Location:46 → 247
      DUF4719; Domain of unknown function (DUF4719)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      160225422..160228213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      163000019..163002810
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    F5H4A9.1 GenPept UniProtKB/Swiss-Prot:F5H4A9

    Gene LinkOut

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

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