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CALN1 calneuron 1 [ Homo sapiens (human) ]

Gene ID: 83698, updated on 2-Nov-2024

Summary

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Official Symbol
CALN1provided by HGNC
Official Full Name
calneuron 1provided by HGNC
Primary source
HGNC:HGNC:13248
See related
Ensembl:ENSG00000183166 MIM:607176; AllianceGenome:HGNC:13248
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
CABP8
Summary
This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 8.4), adrenal (RPKM 3.0) and 1 other tissue See more
Orthologs
mouse all
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Genomic context

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See CALN1 in Genome Data Viewer
Location:
7q11.22
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (71779491..72504279, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (72996291..73722754, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (71244476..71912128, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene polypeptide N-acetylgalactosaminyltransferase 17 Neighboring gene microRNA 3914-1 Neighboring gene microRNA 3914-2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70849771-70850414 Neighboring gene NANOG hESC enhancer GRCh37_chr7:70854822-70855327 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:70867825-70868017 Neighboring gene NANOG hESC enhancer GRCh37_chr7:70918079-70918580 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:70921486-70922344 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70922345-70923203 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:70929793-70930680 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:70930681-70931567 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:70939578-70940457 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:70942936-70943436 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:70943437-70943937 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70945609-70946361 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70946362-70947113 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:70954147-70954866 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:70954867-70955585 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:70955586-70956304 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:71112201-71112702 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:71147425-71148210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:71175357-71175858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26116 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:71204691-71205223 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18236 Neighboring gene NANOG hESC enhancer GRCh37_chr7:71245198-71246019 Neighboring gene RN7SK pseudogene 75 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:71406788-71407288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:71407289-71407789 Neighboring gene RNA, 5S ribosomal pseudogene 232 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99965 Neighboring gene ribosomal protein S28 pseudogene 6 Neighboring gene ATP binding cassette subfamily F member 2 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:71689607-71689762 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:71730468-71731047 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:71778325-71778516 Neighboring gene MPRA-validated peak6577 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:71870231-71871430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:71911988-71912488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:71912489-71912989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26117 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:72087779-72088278 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72120413-72120929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26118 Neighboring gene MPRA-validated peak6582 silencer Neighboring gene tRNA-yW synthesizing protein 1 homolog B Neighboring gene microRNA 4650-2 Neighboring gene transmembrane protein 68-like

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 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. Calneuron 1 Increased Ca(2+) in the Endoplasmic Reticulum and Aldosterone Production in Aldosterone-Producing Adenoma. Kobuke K, et al. Hypertension, 2018 Jan. PMID 29109191, Free PMC Article
  2. Alternative splicing, expression and cellular localization of Calneuron-1 in the rat and human brain. Hradsky J, et al. J Histochem Cytochem, 2015 Oct. PMID 26116628, Free PMC Article
  3. Experimental validation of candidate schizophrenia gene CALN1 as a target for microRNA-137. Xia S, et al. Neurosci Lett, 2015 Aug 18. PMID 26163462
  4. Neuronal Calcium and cAMP Cross-Talk Mediated by Cannabinoid CB(1) Receptor and EF-Hand Calcium Sensor Interactions. Angelats E, et al. Front Cell Dev Biol, 2018. PMID 30073165, Free PMC Article
  5. Exosomal miR-675 from metastatic osteosarcoma promotes cell migration and invasion by targeting CALN1. Gong L, et al. Biochem Biophys Res Commun, 2018 Jun 2. PMID 29626470

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. up regulation serum exosomal miR-675 and down regulation of CALN1 in tumor specimen was also found to be associated with the metastatic phenotype in osteosarcoma patients.
    Title: Exosomal miR-675 from metastatic osteosarcoma promotes cell migration and invasion by targeting CALN1.
  2. CALN1 gene encoding calneuron 1 had the strongest correlation with CYP11B2 (aldosterone synthase) among genes encoding Ca2+-binding proteins in Aldosterone-producing Adenoma.
    Title: Calneuron 1 Increased Ca(2+) in the Endoplasmic Reticulum and Aldosterone Production in Aldosterone-Producing Adenoma.
  3. this report has further supported for associations of genetic variants in the ITIH4 and CALN1 genes with schizophrenia and provided the first evidence that the variants regulate ITIH4 AND CALN1 expression in the dorsolateral prefrontal cortex
    Title: Schizophrenia risk variants in ITIH4 and CALN1 regulate gene expression in the dorsolateral prefrontal cortex.
  4. detected the first genome-wide significant association of schizophrenia with CALN1, which is a predicted target of MIR137, and thus provide new evidence for the associations between MIR137 targets and schizophrenia
    Title: Loci with genome-wide associations with schizophrenia in the Han Chinese population.
  5. The protein is most abundant in Purkinje cells of the cerebellum and principal neurons of the cortex and limbic brain whereas no expression in glial cells is apparent.
    Title: Alternative splicing, expression and cellular localization of Calneuron-1 in the rat and human brain.
  6. provide strong evidence that CALN1 is a target of miR-137.
    Title: Experimental validation of candidate schizophrenia gene CALN1 as a target for microRNA-137.
  7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  8. CaBP7 and 8 possess a targeting mechanism that is unique amongst the CaBPs that may contribute to differential functional Ca(2+)-sensing by these family members.
    Title: Membrane targeting of the EF-hand containing calcium-sensing proteins CaBP7 and CaBP8.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
EBI GWAS Catalog
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
EBI GWAS Catalog
Genome-wide association study identifies five new schizophrenia loci.
EBI GWAS Catalog
Genome-wide association study of smoking behaviours in patients with COPD.
EBI GWAS Catalog

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

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in trans-Golgi network membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in trans-Golgi network membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
calcium-binding protein 8
Names
calcium-binding protein CABP8
calneuron I

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_001017440.3 → NP_001017440.1  calcium-binding protein 8 isoform 2

    See identical proteins and their annotated locations for NP_001017440.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1.
    Source sequence(s)
    AC067941, AF282250, AL117636, BC020200, DA101934, DA150825, DA805580
    Consensus CDS
    CCDS5541.1
    UniProtKB/TrEMBL
    A4D1Z1
    Related
    ENSP00000332498.5, ENST00000329008.9
    Conserved Domains (1) summary
    PTZ00184
    Location:32 → 142
    PTZ00184; calmodulin; Provisional

  2. NM_001363460.1 → NP_001350389.1  calcium-binding protein 8 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AF282250, AL117636, BC020200, DA150825, DA233778, DA805580
    Consensus CDS
    CCDS5541.1
    UniProtKB/TrEMBL
    A4D1Z1
    Related
    ENSP00000410704.1, ENST00000431984.5
    Conserved Domains (1) summary
    PTZ00184
    Location:32 → 142
    PTZ00184; calmodulin; Provisional

  3. NM_031468.4 → NP_113656.2  calcium-binding protein 8 isoform 1

    See identical proteins and their annotated locations for NP_113656.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    AF282250, AL117636, BG718538, DA150825, DA805580
    Consensus CDS
    CCDS47603.1
    UniProtKB/Swiss-Prot
    J3KQA7, Q9BXU9
    Related
    ENSP00000378690.2, ENST00000395275.7
    Conserved Domains (1) summary
    PTZ00184
    Location:74 → 184
    PTZ00184; calmodulin; Provisional

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    71779491..72504279 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012677.2 → XP_016868166.1  calcium-binding protein 8 isoform X3

    Conserved Domains (1) summary
    PTZ00184
    Location:35 → 145
    PTZ00184; calmodulin; Provisional

  2. XM_017012683.2 → XP_016868172.1  calcium-binding protein 8 isoform X4

    UniProtKB/TrEMBL
    A4D1Z1
    Conserved Domains (1) summary
    PTZ00184
    Location:32 → 142
    PTZ00184; calmodulin; Provisional

  3. XM_017012676.3 → XP_016868165.1  calcium-binding protein 8 isoform X6

    UniProtKB/Swiss-Prot
    J3KQA7, Q9BXU9
    Conserved Domains (1) summary
    PTZ00184
    Location:74 → 184
    PTZ00184; calmodulin; Provisional

  4. XM_047420910.1 → XP_047276866.1  calcium-binding protein 8 isoform X1

  5. XM_017012678.2 → XP_016868167.1  calcium-binding protein 8 isoform X4

    UniProtKB/TrEMBL
    A4D1Z1
    Related
    ENSP00000378691.2, ENST00000395276.6
    Conserved Domains (1) summary
    PTZ00184
    Location:32 → 142
    PTZ00184; calmodulin; Provisional

  6. XM_017012682.2 → XP_016868171.1  calcium-binding protein 8 isoform X4

    UniProtKB/TrEMBL
    A4D1Z1
    Conserved Domains (1) summary
    PTZ00184
    Location:32 → 142
    PTZ00184; calmodulin; Provisional

  7. XM_011516596.3 → XP_011514898.1  calcium-binding protein 8 isoform X4

    See identical proteins and their annotated locations for XP_011514898.1

    UniProtKB/TrEMBL
    A4D1Z1
    Conserved Domains (1) summary
    PTZ00184
    Location:32 → 142
    PTZ00184; calmodulin; Provisional

  8. XM_011516594.4 → XP_011514896.1  calcium-binding protein 8 isoform X2

    Conserved Domains (2) summary
    cd00051
    Location:57 → 118
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:58 → 118
    EF-hand_7; EF-hand domain pair

  9. XM_017012680.2 → XP_016868169.1  calcium-binding protein 8 isoform X4

    UniProtKB/TrEMBL
    A4D1Z1
    Conserved Domains (1) summary
    PTZ00184
    Location:32 → 142
    PTZ00184; calmodulin; Provisional

  10. XM_011516597.2 → XP_011514899.1  calcium-binding protein 8 isoform X4

    See identical proteins and their annotated locations for XP_011514899.1

    UniProtKB/TrEMBL
    A4D1Z1
    Conserved Domains (1) summary
    PTZ00184
    Location:32 → 142
    PTZ00184; calmodulin; Provisional

  11. XM_017012679.1 → XP_016868168.1  calcium-binding protein 8 isoform X4

    UniProtKB/TrEMBL
    A4D1Z1
    Conserved Domains (1) summary
    PTZ00184
    Location:32 → 142
    PTZ00184; calmodulin; Provisional

  12. XM_047420911.1 → XP_047276867.1  calcium-binding protein 8 isoform X5

    Related
    ENSP00000411806.1, ENST00000446128.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    72996291..73722754 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359147.1 → XP_054215122.1  calcium-binding protein 8 isoform X3

  2. XM_054359154.1 → XP_054215129.1  calcium-binding protein 8 isoform X4

    UniProtKB/TrEMBL
    A4D1Z1

  3. XM_054359145.1 → XP_054215120.1  calcium-binding protein 8 isoform X1

  4. XM_054359148.1 → XP_054215123.1  calcium-binding protein 8 isoform X4

    UniProtKB/TrEMBL
    A4D1Z1

  5. XM_054359151.1 → XP_054215126.1  calcium-binding protein 8 isoform X4

    UniProtKB/TrEMBL
    A4D1Z1

  6. XM_054359146.1 → XP_054215121.1  calcium-binding protein 8 isoform X2

  7. XM_054359152.1 → XP_054215127.1  calcium-binding protein 8 isoform X4

    UniProtKB/TrEMBL
    A4D1Z1

  8. XM_054359150.1 → XP_054215125.1  calcium-binding protein 8 isoform X4

    UniProtKB/TrEMBL
    A4D1Z1

  9. XM_054359149.1 → XP_054215124.1  calcium-binding protein 8 isoform X4

    UniProtKB/TrEMBL
    A4D1Z1

  10. XM_054359153.1 → XP_054215128.1  calcium-binding protein 8 isoform X4

    UniProtKB/TrEMBL
    A4D1Z1

  11. XM_054359155.1 → XP_054215130.1  calcium-binding protein 8 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BXU9.2 GenPept UniProtKB/Swiss-Prot:Q9BXU9

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