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    CNBD1 cyclic nucleotide binding domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 168975, updated on 26-Nov-2024

    Summary

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    Official Symbol
    CNBD1provided by HGNC
    Official Full Name
    cyclic nucleotide binding domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:26663
    See related
    Ensembl:ENSG00000176571 AllianceGenome:HGNC:26663
    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
    Expression
    Restricted expression toward testis (RPKM 2.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See CNBD1 in Genome Data Viewer
    Location:
    8q21.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (86866415..87428652)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (87987207..88551974)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (87878643..88395087)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cyclic nucleotide gated channel subunit beta 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:87706251-87706896 Neighboring gene UBE2Q2 pseudogene 10 Neighboring gene uncharacterized LOC107986895 Neighboring gene NANOG hESC enhancer GRCh37_chr8:87980781-87981282 Neighboring gene NANOG hESC enhancer GRCh37_chr8:88152834-88153335 Neighboring gene NANOG hESC enhancer GRCh37_chr8:88208643-88209144 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:88354821-88355336 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:88437867-88438368 Neighboring gene IARS2 pseudogene 1 Neighboring gene vesicle trafficking 1 pseudogene 2

    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
    • 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. [The influence of calcineurin gene polymorphism on morphofunctional characteristics of cardiovascular system of athletes]. Akhmetov II, et al. Ross Fiziol Zh Im I M Sechenova, 2008 Aug. PMID 18825932
    2. Genetic variants associated with disordered eating. Wade TD, et al. Int J Eat Disord, 2013 Sep. PMID 23568457, Free PMC Article
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: [The influence of calcineurin gene polymorphism on morphofunctional characteristics of cardiovascular system of athletes].
    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
    Genetic variants associated with disordered eating.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    cyclic nucleotide-binding domain-containing protein 1

    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_173538.3 → NP_775809.1  cyclic nucleotide-binding domain-containing protein 1

      See identical proteins and their annotated locations for NP_775809.1

      Status: VALIDATED

      Source sequence(s)
      AC090572, AC100799, BC117328
      Consensus CDS
      CCDS55259.1
      UniProtKB/Swiss-Prot
      Q8NA66
      UniProtKB/TrEMBL
      H0YC59
      Related
      ENSP00000430073.1, ENST00000518476.6
      Conserved Domains (1) summary
      cd00038
      Location:331 → 434
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      86866415..87428652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421411.1 → XP_047277367.1  cyclic nucleotide-binding domain-containing protein 1 isoform X2

    2. XM_024447082.2 → XP_024302850.1  cyclic nucleotide-binding domain-containing protein 1 isoform X1

    3. XM_017013149.2 → XP_016868638.1  cyclic nucleotide-binding domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      H0YC59
      Related
      ENSP00000430986.2, ENST00000523299.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      87987207..88551974
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359872.1 → XP_054215847.1  cyclic nucleotide-binding domain-containing protein 1 isoform X3

    2. XM_054359870.1 → XP_054215845.1  cyclic nucleotide-binding domain-containing protein 1 isoform X1

    3. XM_054359871.1 → XP_054215846.1  cyclic nucleotide-binding domain-containing protein 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NA66.1 GenPept UniProtKB/Swiss-Prot:Q8NA66

    Gene LinkOut

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