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

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

Summary

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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
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Genomic context

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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

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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. [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

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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

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

Gene Ontology Provided by GOA

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

General protein information

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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)

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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_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

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