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

Gene ID: 285237, updated on 3-Apr-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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 17.0), bone marrow (RPKM 14.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3p11.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (88149959..88157965)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (88225792..88233961)
105.20220307 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. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Yang X, et al. Cell, 2016 Feb 11. PMID 26871637, Free PMC Article
  4. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

See all (10) 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)

Genotypes

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 molecular_function ND
No biological Data available
more info
  
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_2023_10

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

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

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