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    CALN1 calneuron 1 [ Homo sapiens (human) ]

    Gene ID: 83698, updated on 28-Oct-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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    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 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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