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

Gene ID: 10175, updated on 11-Apr-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, Apr 2022]
Expression
Ubiquitous expression in liver (RPKM 47.9), duodenum (RPKM 41.3) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (54423561..54441374, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (48628725..48646539, complement)
105.20220307 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
  • 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 (14) 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 
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 
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_2023_10

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.

Chemical Information
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