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    C3orf38 chromosome 3 open reading frame 38 [ Homo sapiens (human) ]

    Gene ID: 285237, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C3orf38provided by HGNC
    Official Full Name
    chromosome 3 open reading frame 38provided by HGNC
    Primary source
    HGNC:HGNC:28384
    See related
    Ensembl:ENSG00000179021 AllianceGenome:HGNC:28384
    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
    Involved in positive regulation of apoptotic process. Located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 17.0), bone marrow (RPKM 14.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C3orf38 in Genome Data Viewer
    Location:
    3p11.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (88149959..88157965)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (88225792..88233961)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (88199109..88207115)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC128031834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14547 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:88108555-88109114 Neighboring gene CGG triplet repeat binding protein 1 Neighboring gene zinc finger protein 654 Neighboring gene chromobox 5 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:88198041-88198618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20120 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:88279578-88280777 Neighboring gene uncharacterized LOC105377202 Neighboring gene ATP binding cassette subfamily F member 2 pseudogene 1 Neighboring gene casein kinase 2 subunit alpha' interacting protein

    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. Acetaminophen-NAPQI hepatotoxicity: a cell line model system genome-wide association study. Moyer AM, et al. Toxicol Sci, 2011 Mar. PMID 21177773, Free PMC Article
    2. Identification of novel regulators of apoptosis using a high-throughput cell-based screen. Park KM, et al. Mol Cells, 2007 Apr 30. PMID 17464193
    3. CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment. Smits DJ, et al. Hum Genet, 2023 Mar. PMID 36538041, Free PMC Article
    4. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Yang X, et al. Cell, 2016 Feb 11. PMID 26871637, Free PMC Article
    5. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216

    See all (12) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    Acetaminophen-NAPQI hepatotoxicity: a cell line model system genome-wide association study.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ54270, MGC26717

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein C3orf38
    Names
    dense incisors

    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_173824.4 → NP_776185.2  uncharacterized protein C3orf38

      See identical proteins and their annotated locations for NP_776185.2

      Status: VALIDATED

      Source sequence(s)
      AC128650
      Consensus CDS
      CCDS2921.2
      UniProtKB/Swiss-Prot
      B2R8X6, Q5JPI3, Q8TC85
      UniProtKB/TrEMBL
      A0A0S2Z5Z5
      Related
      ENSP00000322469.3, ENST00000318887.8
      Conserved Domains (1) summary
      pfam15008
      Location:10 → 275
      DUF4518; Domain of unknown function (DUF4518)

    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
      88149959..88157965
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264745.6 → XP_005264802.1  uncharacterized protein C3orf38 isoform X1

      See identical proteins and their annotated locations for XP_005264802.1

      UniProtKB/TrEMBL
      A0A0S2Z5Z5
      Conserved Domains (1) summary
      pfam15008
      Location:9 → 274
      DUF4518; Domain of unknown function (DUF4518)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      88225792..88233961
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346286.1 → XP_054202261.1  uncharacterized protein C3orf38 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JPI3.1 GenPept UniProtKB/Swiss-Prot:Q5JPI3

    Gene LinkOut

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