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CALN1 calneuron 1 [ Homo sapiens (human) ]

Gene ID: 83698, updated on 3-Jun-2019

Summary

Official Symbol
CALN1provided by HGNC
Official Full Name
calneuron 1provided by HGNC
Primary source
HGNC:HGNC:13248
See related
Ensembl:ENSG00000183166 MIM:607176
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

Genomic context

See CALN1 in Genome Data Viewer
Location:
7q11.22
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (71779491..72504271, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (71244476..71912136, 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 RN7SK pseudogene 75 Neighboring gene RNA, 5S ribosomal pseudogene 232 Neighboring gene ribosomal protein S28 pseudogene 6 Neighboring gene ATP binding cassette subfamily F member 2 pseudogene 2 Neighboring gene tRNA-yW synthesizing protein 1 homolog B Neighboring gene microRNA 4650-2 Neighboring gene transmembrane protein 68 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
trans-Golgi network membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001017440.3NP_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/Swiss-Prot
    Q9BXU9
    UniProtKB/TrEMBL
    A4D1Z1
    Related
    ENSP00000332498.5, ENST00000329008.9
    Conserved Domains (1) summary
    cl25352
    Location:32142
    EFh_PEF; The penta-EF hand (PEF) family
  2. NM_001363460.1NP_001350389.1  calcium-binding protein 8 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AF282250, AL117636, BC020200, DA150825, DA233778, DA805580
    Consensus CDS
    CCDS5541.1
    Conserved Domains (1) summary
    cl25352
    Location:32142
    EFh_PEF; The penta-EF hand (PEF) family
  3. NM_031468.4NP_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
    Q9BXU9
    Related
    ENSP00000378690.2, ENST00000395275.7
    Conserved Domains (1) summary
    cl25352
    Location:74184
    EFh_PEF; The penta-EF hand (PEF) family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    71779491..72504271 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (2) summary
    cd00051
    Location:43104
    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:44104
    EF-hand_7; EF-hand domain pair
  2. XM_017012676.2XP_016868165.1  calcium-binding protein 8 isoform X1

    UniProtKB/Swiss-Prot
    Q9BXU9
    Conserved Domains (1) summary
    cl25352
    Location:74184
    EFh_PEF; The penta-EF hand (PEF) family
  3. XM_017012675.1XP_016868164.1  calcium-binding protein 8 isoform X1

    UniProtKB/Swiss-Prot
    Q9BXU9
    Conserved Domains (1) summary
    cl25352
    Location:74184
    EFh_PEF; The penta-EF hand (PEF) family
  4. XM_017012683.1XP_016868172.1  calcium-binding protein 8 isoform X4

    UniProtKB/Swiss-Prot
    Q9BXU9
    UniProtKB/TrEMBL
    A4D1Z1
    Conserved Domains (1) summary
    cl25352
    Location:32142
    EFh_PEF; The penta-EF hand (PEF) family
  5. XM_017012678.1XP_016868167.1  calcium-binding protein 8 isoform X4

    UniProtKB/Swiss-Prot
    Q9BXU9
    UniProtKB/TrEMBL
    A4D1Z1
    Related
    ENSP00000378691.2, ENST00000395276.6
    Conserved Domains (1) summary
    cl25352
    Location:32142
    EFh_PEF; The penta-EF hand (PEF) family
  6. XM_011516595.1XP_011514897.1  calcium-binding protein 8 isoform X4

    UniProtKB/Swiss-Prot
    Q9BXU9
    UniProtKB/TrEMBL
    A4D1Z1
    Related
    ENSP00000410704.1, ENST00000431984.5
    Conserved Domains (1) summary
    cl25352
    Location:32142
    EFh_PEF; The penta-EF hand (PEF) family
  7. XM_011516599.1XP_011514901.1  calcium-binding protein 8 isoform X4

    See identical proteins and their annotated locations for XP_011514901.1

    UniProtKB/Swiss-Prot
    Q9BXU9
    UniProtKB/TrEMBL
    A4D1Z1
    Conserved Domains (1) summary
    cl25352
    Location:32142
    EFh_PEF; The penta-EF hand (PEF) family
  8. XM_017012682.1XP_016868171.1  calcium-binding protein 8 isoform X4

    UniProtKB/Swiss-Prot
    Q9BXU9
    UniProtKB/TrEMBL
    A4D1Z1
    Conserved Domains (1) summary
    cl25352
    Location:32142
    EFh_PEF; The penta-EF hand (PEF) family
  9. XM_017012681.1XP_016868170.1  calcium-binding protein 8 isoform X4

    UniProtKB/Swiss-Prot
    Q9BXU9
    UniProtKB/TrEMBL
    A4D1Z1
    Conserved Domains (1) summary
    cl25352
    Location:32142
    EFh_PEF; The penta-EF hand (PEF) family
  10. XM_011516594.3XP_011514896.1  calcium-binding protein 8 isoform X2

    Conserved Domains (2) summary
    cd00051
    Location:57118
    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:58118
    EF-hand_7; EF-hand domain pair
  11. XM_017012680.1XP_016868169.1  calcium-binding protein 8 isoform X4

    UniProtKB/Swiss-Prot
    Q9BXU9
    UniProtKB/TrEMBL
    A4D1Z1
    Conserved Domains (1) summary
    cl25352
    Location:32142
    EFh_PEF; The penta-EF hand (PEF) family
  12. XM_011516597.2XP_011514899.1  calcium-binding protein 8 isoform X4

    See identical proteins and their annotated locations for XP_011514899.1

    UniProtKB/Swiss-Prot
    Q9BXU9
    UniProtKB/TrEMBL
    A4D1Z1
    Conserved Domains (1) summary
    cl25352
    Location:32142
    EFh_PEF; The penta-EF hand (PEF) family
  13. XM_011516596.2XP_011514898.1  calcium-binding protein 8 isoform X4

    See identical proteins and their annotated locations for XP_011514898.1

    UniProtKB/Swiss-Prot
    Q9BXU9
    UniProtKB/TrEMBL
    A4D1Z1
    Conserved Domains (1) summary
    cl25352
    Location:32142
    EFh_PEF; The penta-EF hand (PEF) family
  14. XM_017012679.1XP_016868168.1  calcium-binding protein 8 isoform X4

    UniProtKB/Swiss-Prot
    Q9BXU9
    UniProtKB/TrEMBL
    A4D1Z1
    Conserved Domains (1) summary
    cl25352
    Location:32142
    EFh_PEF; The penta-EF hand (PEF) family
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