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

    Gene ID: 285237, updated on 3-Dec-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    uncharacterized protein C3orf38
    Names
    dense incisors

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_173824.4NP_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:10275
      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_005264745.6XP_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:9274
      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_054346286.1XP_054202261.1  uncharacterized protein C3orf38 isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z5Z5