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

Gene ID: 285237, updated on 5-Aug-2022

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, 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

See C3orf38 in Genome Data Viewer
Location:
3p11.1
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (88149959..88157965)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (88225792..88233816)
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 5-hydroxytryptamine receptor 1F Neighboring gene RNA, U6atac small nuclear 6, pseudogene Neighboring gene CGG triplet repeat binding protein 1 Neighboring gene zinc finger protein 654 Neighboring gene chromobox 5 pseudogene 1 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

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

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_173824.4NP_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
    Q5JPI3, Q8TC85
    Related
    ENSP00000322469.3, ENST00000318887.8
    Conserved Domains (1) summary
    pfam15008
    Location:10275
    DUF4518; Domain of unknown function (DUF4518)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    D3DU39
    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..88233816
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)