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    CNIH3 cornichon family AMPA receptor auxiliary protein 3 [ Homo sapiens (human) ]

    Gene ID: 149111, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CNIH3provided by HGNC
    Official Full Name
    cornichon family AMPA receptor auxiliary protein 3provided by HGNC
    Primary source
    HGNC:HGNC:26802
    See related
    Ensembl:ENSG00000143786 AllianceGenome:HGNC:26802
    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
    CNIH-3
    Summary
    Predicted to enable channel regulator activity. Involved in regulation of AMPA receptor activity. Predicted to be located in dendritic shaft and postsynaptic membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in dendrite and glutamatergic synapse. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 4.8), testis (RPKM 1.6) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CNIH3 in Genome Data Viewer
    Location:
    1q42.12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (224434640..224740554)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (223623489..223929352)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (224622342..224928256)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224544931-224545431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2611 Neighboring gene cornichon family member 4 Neighboring gene WD repeat domain 26 Neighboring gene microRNA 4742 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224616083-224616672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224616673-224617262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2612 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:224661692-224661861 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224667779-224668305 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:224685507-224686036 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224686037-224686568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:224687944-224688444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:224688445-224688945 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224696756-224697667 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:224703315-224703519 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224759465-224759964 Neighboring gene aldehyde reductase family 1 member B1 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:224794759-224795606 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:224810564-224810727 Neighboring gene CNIH3 antisense RNA 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224825085-224825727 Neighboring gene DNAJB6 pseudogene 6 Neighboring gene NANOG hESC enhancer GRCh37_chr1:224885837-224886338 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:224920728-224921927 Neighboring gene CNIH3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2617 Neighboring gene uncharacterized LOC124904523 Neighboring gene long intergenic non-protein coding RNA 2813

    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. Evidence of CNIH3 involvement in opioid dependence. Nelson EC, et al. Mol Psychiatry, 2016 May. PMID 26239289, Free PMC Article
    2. Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophrenia. Drummond JB, et al. Neuroreport, 2012 Dec 5. PMID 23103966
    3. Functional comparison of the effects of TARPs and cornichons on AMPA receptor trafficking and gating. Shi Y, et al. Proc Natl Acad Sci U S A, 2010 Sep 14. PMID 20805473, Free PMC Article
    4. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. Liu C, et al. Cancer Res, 2019 May 1. PMID 30862715, Free PMC Article
    5. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Clone Names

    • FLJ38993

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of AMPA receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in synaptic transmission, glutamatergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of AMPA glutamate receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in dendritic shaft ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein cornichon homolog 3
    Names
    cornichon homolog 3

    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_001322302.2 → NP_001309231.1  protein cornichon homolog 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC099790, AL596330
      Conserved Domains (1) summary
      pfam03311
      Location:56 → 179
      Cornichon; Cornichon protein

    2. NM_001322303.2 → NP_001309232.1  protein cornichon homolog 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC099790, AL596330
      Conserved Domains (1) summary
      pfam03311
      Location:27 → 157
      Cornichon; Cornichon protein

    3. NM_001322304.2 → NP_001309233.1  protein cornichon homolog 3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC096537, AC099790, AL596330
      Conserved Domains (1) summary
      pfam03311
      Location:10 → 133
      Cornichon; Cornichon protein

    4. NM_001322305.2 → NP_001309234.1  protein cornichon homolog 3 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC096537, AL596330
      Conserved Domains (1) summary
      pfam03311
      Location:7 → 135
      Cornichon; Cornichon protein

    5. NM_152495.2 → NP_689708.1  protein cornichon homolog 3 isoform 1

      See identical proteins and their annotated locations for NP_689708.1

      Status: VALIDATED

      Source sequence(s)
      AC096537, AK096312, AL596330
      Consensus CDS
      CCDS1544.1
      UniProtKB/Swiss-Prot
      Q8TBE1
      Related
      ENSP00000272133.3, ENST00000272133.4
      Conserved Domains (1) summary
      pfam03311
      Location:7 → 151
      Cornichon; Cornichon protein

    RNA

    1. NR_136287.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096537, AL596330

    2. NR_136288.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096537, AC099790, AL596330

    3. NR_136289.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096537, AC099790, AL596330

    4. NR_136290.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096537, AC099790, AL596330

    5. NR_136291.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096537, AC099790, AL596330

    6. NR_136292.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096537, AC099790, AL596330

    7. NR_136293.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096537, AC099790, AL596330

    8. NR_136294.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096537, AC099790, AL596330

    9. NR_136295.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096537, AC099790, AL596330

    10. NR_136296.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096537, AC099790, AL596330

    11. NR_136297.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096537, AC099790, AL596330

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      224434640..224740554
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      223623489..223929352
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TBE1.1 GenPept UniProtKB/Swiss-Prot:Q8TBE1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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