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    CNIH1 cornichon family member 1 [ Homo sapiens (human) ]

    Gene ID: 10175, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CNIH1provided by HGNC
    Official Full Name
    cornichon family member 1provided by HGNC
    Primary source
    HGNC:HGNC:19431
    See related
    Ensembl:ENSG00000100528 MIM:611287; AllianceGenome:HGNC:19431
    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; CNIL; CNIH-1; TGAM77
    Summary
    Predicted to be involved in immune response and signal transduction. Predicted to be located in ER to Golgi transport vesicle membrane; endoplasmic reticulum membrane; and endoplasmic reticulum-Golgi intermediate compartment membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in liver (RPKM 47.9), duodenum (RPKM 41.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CNIH1 in Genome Data Viewer
    Location:
    14q22.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (54423561..54441374, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (48628725..48646539, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (54890279..54908092, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370507 Neighboring gene uncharacterized LOC105370505 Neighboring gene Sharpr-MPRA regulatory region 2316 Neighboring gene HNF4 motif-containing MPRA enhancer 145 Neighboring gene Sharpr-MPRA regulatory region 14732 Neighboring gene VISTA enhancer hs1414 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:54718298-54719497 Neighboring gene NANOG hESC enhancer GRCh37_chr14:54806435-54806956 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:54828631-54829198 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:54829199-54829766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:54836737-54837238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:54860347-54860846 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5761 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:54907701-54908499 Neighboring gene cyclin dependent kinase inhibitor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8411 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5764 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:54976514-54976699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8412 Neighboring gene glia maturation factor beta Neighboring gene cell growth regulator with ring finger domain 1

    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. The human homolog of Drosophila cornichon protein is differentially expressed in alloactivated T-cells. Utku N, et al. Biochim Biophys Acta, 1999 Apr 1. PMID 10209299
    2. AMPA receptor modulation by cornichon-2 dictated by transmembrane AMPA receptor regulatory protein isoform. Gill MB, et al. Eur J Neurosci, 2012 Jan. PMID 22211840
    3. Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophrenia. Drummond JB, et al. Neuroreport, 2012 Dec 5. PMID 23103966
    4. Cornichon regulates transport and secretion of TGFalpha-related proteins in metazoan cells. Castro CP, et al. J Cell Sci, 2007 Jul 15. PMID 17607000
    5. Gene essentiality and synthetic lethality in haploid human cells. Blomen VA, et al. Science, 2015 Nov 27. PMID 26472760

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Significant upregulation of CNIH-1 mRNA expression was found in schizophrenia.
      Title: Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophrenia.
    2. the modulation of AMPA receptors by CNIH-2 depends upon the Transmembrane AMPA receptor regulatory protein isoform composition within the receptor complex
      Title: AMPA receptor modulation by cornichon-2 dictated by transmembrane AMPA receptor regulatory protein isoform.
    3. human CNIH and Drosophila Cni are primarily localized in the endoplasmic reticulum and associate with immature TGFalpha family proteins; alterations of cornichon expression result in changes in transport, processing and secretion of TGFalpha proteins
      Title: Cornichon regulates transport and secretion of TGFalpha-related proteins in metazoan cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC117156

    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 immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    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
    		  

    General protein information

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    Preferred Names
    protein cornichon homolog 1
    Names
    T-cell growth-associated molecule 77
    cornichon family AMPA receptor auxiliary protein 1
    cornichon homolog

    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_005776.3 → NP_005767.1  protein cornichon homolog 1

      See identical proteins and their annotated locations for NP_005767.1

      Status: VALIDATED

      Source sequence(s)
      AF104398, AL359792, AY358635
      Consensus CDS
      CCDS9717.1
      UniProtKB/Swiss-Prot
      O95406, Q3SYM7
      UniProtKB/TrEMBL
      B2R4P1
      Related
      ENSP00000216416.4, ENST00000216416.9
      Conserved Domains (1) summary
      pfam03311
      Location:7 → 135
      Cornichon; Cornichon protein

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      54423561..54441374 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      48628725..48646539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001009551.1: Suppressed sequence

      Description
      NM_001009551.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95406.1 GenPept UniProtKB/Swiss-Prot:O95406

    Gene LinkOut

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

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