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RCN3 reticulocalbin 3 [ Homo sapiens (human) ]

Gene ID: 57333, updated on 6-Sep-2022

Summary

Official Symbol
RCN3provided by HGNC
Official Full Name
reticulocalbin 3provided by HGNC
Primary source
HGNC:HGNC:21145
See related
Ensembl:ENSG00000142552 MIM:619032; AllianceGenome:HGNC:21145
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
RLP49
Summary
Enables calcium ion binding activity. Involved in several processes, including collagen biosynthetic process; positive regulation of peptidase activity; and regulation of protein kinase B signaling. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 12.8), placenta (RPKM 11.9) and 24 other tissues See more
Orthologs
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Genomic context

See RCN3 in Genome Data Viewer
Location:
19q13.33
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49528003..49543633)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52527996..52543626)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50031260..50046890)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 6C pseudogene 7 Neighboring gene Fc gamma receptor and transporter Neighboring gene nitric oxide synthase interacting protein Neighboring gene proline rich and Gla domain 2

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in ERAD pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in collagen biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lung epithelium development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in phospholipid homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of peptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of protein kinase B signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in surfactant homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
reticulocalbin-3
Names
EF-hand calcium-binding protein RLP49
reticulocabin
reticulocalbin 3, 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.

mRNA and Protein(s)

  1. NM_020650.3NP_065701.2  reticulocalbin-3 precursor

    See identical proteins and their annotated locations for NP_065701.2

    Status: VALIDATED

    Source sequence(s)
    AY195859
    Consensus CDS
    CCDS12771.1
    UniProtKB/Swiss-Prot
    Q96D15, Q9HBZ8
    Related
    ENSP00000270645.2, ENST00000270645.8
    Conserved Domains (1) summary
    cd16230
    Location:44311
    EFh_CREC_RCN3; EF-hand, calcium binding motif, found in reticulocalbin-3 (RCN-3)

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    49528003..49543633
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047439116.1XP_047295072.1  reticulocalbin-3 isoform X1

  2. XM_047439118.1XP_047295074.1  reticulocalbin-3 isoform X2

    UniProtKB/Swiss-Prot
    Q9HBZ8
  3. XM_047439115.1XP_047295071.1  reticulocalbin-3 isoform X1

  4. XM_047439117.1XP_047295073.1  reticulocalbin-3 isoform X2

    UniProtKB/Swiss-Prot
    Q9HBZ8
  5. XM_024451620.2XP_024307388.1  reticulocalbin-3 isoform X1

    Conserved Domains (1) summary
    cd16230
    Location:44348
    EFh_CREC_RCN3; EF-hand, calcium binding motif, found in reticulocalbin-3 (RCN-3)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    52527996..52543626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)