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    C14orf28 chromosome 14 open reading frame 28 [ Homo sapiens (human) ]

    Gene ID: 122525, updated on 27-Dec-2024

    Summary

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    Official Symbol
    C14orf28provided by HGNC
    Official Full Name
    chromosome 14 open reading frame 28provided by HGNC
    Primary source
    HGNC:HGNC:19834
    See related
    Ensembl:ENSG00000179476 AllianceGenome:HGNC:19834
    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
    Also known as
    DRIP1; DRIP-1; c14_5270
    Summary
    Predicted to act upstream of or within with a positive effect on NMDA selective glutamate receptor signaling pathway and cAMP-mediated signaling. Predicted to act upstream of or within several processes, including G protein-coupled dopamine receptor signaling pathway; memory; and neurogenesis. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 4.2), testis (RPKM 3.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C14orf28 in Genome Data Viewer
    Location:
    14q21.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (44897275..44907257)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (39089234..39099216)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (45366478..45376460)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene DET1 and DDB1 associated 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:45366797-45367296 Neighboring gene uncharacterized LOC101927418 Neighboring gene Ras related GTP binding A pseudogene 1 Neighboring gene kelch like family member 28 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8295 Neighboring gene H3K27ac hESC enhancers GRCh37_chr14:45430821-45431335 and GRCh37_chr14:45431336-45431850 Neighboring gene TOG array regulator of axonemal microtubules 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8297 Neighboring gene Sharpr-MPRA regulatory region 2603

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. C14orf28 downregulated by miR-519d contributes to oncogenicity and regulates apoptosis and EMT in colorectal cancer. Yang X, et al. Mol Cell Biochem, 2017 Oct. PMID 28455792
    2. Altered expression and coregulation of dopamine signalling genes in schizophrenia and bipolar disorder. Zhan L, et al. Neuropathol Appl Neurobiol, 2011 Feb. PMID 20874815
    3. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    5. 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

    What's a GeneRIF?
    1. our data suggest: (i) C14ORF28, GNB2L1, MLLT3, DRD2 and DARPP-32 are important in the pathogenesis of schizophrenia and bipolar disorder
      Title: Altered expression and coregulation of dopamine signalling genes in schizophrenia and bipolar disorder.
    Submit: New GeneRIF Correction

    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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    Markers

    Homology

    General protein information

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    Preferred Names
    uncharacterized protein C14orf28
    Names
    dopamine receptor interacting protein 1

    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_001017923.2 → NP_001017923.1  uncharacterized protein C14orf28

      See identical proteins and their annotated locations for NP_001017923.1

      Status: VALIDATED

      Source sequence(s)
      AL049870, BM849739, BU624091
      Consensus CDS
      CCDS32069.1
      UniProtKB/Swiss-Prot
      Q4W4Y0
      UniProtKB/TrEMBL
      Q8N0U0
      Related
      ENSP00000326846.3, ENST00000325192.8

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      44897275..44907257
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430915.1 → XP_047286871.1  uncharacterized protein C14orf28 isoform X1

    2. XM_011536408.1 → XP_011534710.1  uncharacterized protein C14orf28 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      39089234..39099216
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375344.1 → XP_054231319.1  uncharacterized protein C14orf28 isoform X1

    2. XM_054375345.1 → XP_054231320.1  uncharacterized protein C14orf28 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4W4Y0.1 GenPept UniProtKB/Swiss-Prot:Q4W4Y0

    Gene LinkOut

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

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