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CALR3 calreticulin 3 [ Homo sapiens (human) ]

Gene ID: 125972, updated on 27-Nov-2024

Summary

Official Symbol
CALR3provided by HGNC
Official Full Name
calreticulin 3provided by HGNC
Primary source
HGNC:HGNC:20407
See related
Ensembl:ENSG00000269058 MIM:611414; AllianceGenome:HGNC:20407
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
CRT2; CT93; CMH19
Summary
The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]
Expression
Restricted expression toward testis (RPKM 33.9) See more
Orthologs
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Genomic context

See CALR3 in Genome Data Viewer
Location:
19p13.11
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (16479061..16496167, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (16613878..16630953, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (16589872..16606978, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16435432-16436204 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16436205-16436975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14224 Neighboring gene KLF transcription factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14226 Neighboring gene epidermal growth factor receptor pathway substrate 15 like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14228 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16486555-16487056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14229 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16494079-16494580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16528701-16529304 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16531117-16531720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16531721-16532324 Neighboring gene ribosomal protein S2 pseudogene 51 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16551872-16552372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16552373-16552873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14232 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:16555578-16556777 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16564379-16564879 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16565415-16565914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16567358-16568116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16572441-16573108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16573109-16573776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16575487-16576411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16581959-16582870 Neighboring gene Sharpr-MPRA regulatory region 3003 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16606242-16606742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16606743-16607243 Neighboring gene chromosome 19 open reading frame 44 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10302 Neighboring gene calcium homeostasis endoplasmic reticulum protein Neighboring gene RNA, 7SL, cytoplasmic 146, pseudogene

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Clone Names

  • FLJ25355, MGC26577

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
enables protein folding chaperone IEA
Inferred from Electronic Annotation
more info
 
enables unfolded protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein folding IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
calreticulin-3
Names
calreticulin-2
calsperin
cancer/testis antigen 93
testis secretory sperm-binding protein Li 226n

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.

Genomic

  1. NG_031959.2 RefSeqGene

    Range
    137013..154148
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_422

mRNA and Protein(s)

  1. NM_145046.5NP_659483.2  calreticulin-3 precursor

    See identical proteins and their annotated locations for NP_659483.2

    Status: REVIEWED

    Source sequence(s)
    AA724299, AA910019, AB576176, BP370084, DB459545
    Consensus CDS
    CCDS12344.1
    UniProtKB/Swiss-Prot
    D9N574, Q96L12, Q96LN3
    UniProtKB/TrEMBL
    A0A140VJF7
    Related
    ENSP00000269881.3, ENST00000269881.8
    Conserved Domains (1) summary
    pfam00262
    Location:23318
    Calreticulin; Calreticulin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    16479061..16496167 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    16613878..16630953 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)