U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    C4orf3 chromosome 4 open reading frame 3 [ Homo sapiens (human) ]

    Gene ID: 401152, updated on 7-Apr-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    C4orf3provided by HGNC
    Official Full Name
    chromosome 4 open reading frame 3provided by HGNC
    Primary source
    HGNC:HGNC:19225
    See related
    Ensembl:ENSG00000164096 MIM:620530; AllianceGenome:HGNC:19225
    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
    ALN; HCVFTP1
    Summary
    Predicted to act upstream of or within negative regulation of ATPase-coupled calcium transmembrane transporter activity and negative regulation of calcium ion binding activity. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in esophagus (RPKM 59.1), fat (RPKM 46.0) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See C4orf3 in Genome Data Viewer
    Location:
    4q26
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (119296419..119304445, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (122601521..122609545, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (120217574..120225600, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929762 Neighboring gene mitochondrial ribosomal protein L42 pseudogene 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:120130431-120131630 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:120132786-120133360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15654 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:120133934-120134507 Neighboring gene ubiquitin specific peptidase 53 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21855 Neighboring gene fatty acid binding protein 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:120263717-120264310 Neighboring gene kelch like family member 2 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:120268597-120269585 Neighboring gene RNA, U4 small nuclear 33, pseudogene

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. [Screening and cloning target genes transactivated by hepatitis C virus F protein using suppression subtractive hybridization technique]. Guo J, et al. Zhonghua Gan Zang Bing Za Zhi, 2005 Sep. PMID 16174453
    2. Widespread control of calcium signaling by a family of SERCA-inhibiting micropeptides. Anderson DM, et al. Sci Signal, 2016 Dec 6. PMID 27923914, Free PMC Article
    3. NDFIP allows NEDD4/NEDD4L-induced AQP2 ubiquitination and degradation. Trimpert C, et al. PLoS One, 2017. PMID 28931009, Free PMC Article
    4. A Novel GLP1 Receptor Interacting Protein ATP6ap2 Regulates Insulin Secretion in Pancreatic Beta Cells. Dai FF, et al. J Biol Chem, 2015 Oct 9. PMID 26272612, Free PMC Article
    5. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. Kalsi G, et al. Hum Mol Genet, 2010 Jun 15. PMID 20332099, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    uncharacterized protein C4orf3
    Names
    HCV F-transactivated protein 1
    another-regulin
    hepatitis C virus F protein-transactivated protein 1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_001001701.4 → NP_001001701.2  uncharacterized protein C4orf3 isoform 2

      See identical proteins and their annotated locations for NP_001001701.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AK024537, AK025703, BC017399, BU739784, CN361054, DA353224
      Consensus CDS
      CCDS43266.1
      UniProtKB/Swiss-Prot
      Q6J203, Q8WVX3
      Related
      ENSP00000485697.1, ENST00000504110.2

    2. NM_001170330.1 → NP_001163801.1  uncharacterized protein C4orf3 isoform 1

      See identical proteins and their annotated locations for NP_001163801.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC092656, AY605045, BU739784
      Consensus CDS
      CCDS54798.1
      UniProtKB/Swiss-Prot
      Q8WVX3
      Related
      ENSP00000382026.4, ENST00000399075.6

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      119296419..119304445 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      122601521..122609545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVX3.2 GenPept UniProtKB/Swiss-Prot:Q8WVX3

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools