RCN1 reticulocalbin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RCN1provided by HGNC
Official Full Name: reticulocalbin 1provided by HGNC
Primary source: HGNC:HGNC:9934
See related: Ensembl:ENSG00000049449 MIM:602735; AllianceGenome:HGNC:9934
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RCN; RCAL; PIG20; HEL-S-84
Summary: Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009]
Expression: Ubiquitous expression in placenta (RPKM 69.9), urinary bladder (RPKM 61.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p13

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (32091074..32105722)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (32226946..32241596)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (32112620..32127268)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RCN1 deficiency inhibits oral squamous cell carcinoma progression and THP-1 macrophage M2 polarization.
Title: RCN1 deficiency inhibits oral squamous cell carcinoma progression and THP-1 macrophage M2 polarization.
Downregulation of RCN1 promotes pyroptosis in acute myeloid leukemia cells.
Title: Downregulation of RCN1 promotes pyroptosis in acute myeloid leukemia cells.
Reticulocalbin-1 knockdown increases the sensitivity of cells to Adriamycin in nasopharyngeal carcinoma and promotes endoplasmic reticulum stress-induced cell apoptosis.
Title: Reticulocalbin-1 knockdown increases the sensitivity of cells to Adriamycin in nasopharyngeal carcinoma and promotes endoplasmic reticulum stress-induced cell apoptosis.
Salivary NUS1 and RCN1 Levels as Biomarkers for Oral Squamous Cell Carcinoma Diagnosis.
Title: Salivary NUS1 and RCN1 Levels as Biomarkers for Oral Squamous Cell Carcinoma Diagnosis.
Our data indicate that RCN1 expression may have an vital role at promoting the occurrence of non-small cell lung cancer
Title: Overexpression of RCN1 correlates with poor prognosis and progression in non-small cell lung cancer.
RCN1 may promote cell survival and serve as a useful target for cancer therapy.
Title: Downregulation of reticulocalbin-1 differentially facilitates apoptosis and necroptosis in human prostate cancer cells.
irradiated tumor cells were observed to significantly up-regulate the expression of calcium-binding proteins CALM1, CALU, and RCN1, suggesting important roles for these mediators in promoting tumor cell survival during hypoxia
Title: Irradiation of Epithelial Carcinoma Cells Upregulates Calcium-Binding Proteins That Promote Survival under Hypoxic Conditions.
RCN1 expression was not statistically significantly different to healthy controls but was associated with disease activity score and could be used as a stratification biomarker for systemic sclerosis patients.
Title: Circulating Reticulocalbin 1 and Reticulocalbin 3 in Systemic Sclerosis Patients: Results of a Case Control Study.
reticulocalbin-1 plays a key role in the development of doxorubicin-associated resistance
Title: Identification of up- and down-regulated proteins in doxorubicin-resistant uterine cancer cells: reticulocalbin-1 plays a key role in the development of doxorubicin-associated resistance.
Ca(2+) binding caused an increase in the alpha-helix content of human RCN1. On the other hand, RCN1 did not change the structure with Mg.
Title: Calcium-dependent structural changes in human reticulocalbin-1.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with RCN1; predicted interaction to be within the endoplasmic reticulum	PubMed
Pol	gag-pol	HIV-1 Pol is identified to have a physical interaction with reticulocalbin 1, EF-hand calcium binding domain (RCN1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69418 (e-PCR)
- UniSTS:91433

RH64956 (e-PCR)
- UniSTS:75579

SGC33196 (e-PCR)
- UniSTS:34107

RH98584 (e-PCR)
- UniSTS:84334

D11S2163 (e-PCR)
- UniSTS:150214

STS-L37776 (e-PCR)
- UniSTS:53485

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in camera-type eye development	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: reticulocalbin-1

Names: epididymis secretory protein Li 84; proliferation-inducing gene 20; reticulocalbin 1, EF-hand calcium binding domain

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.