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Aliases for CNIH1 Gene

Aliases for CNIH1 Gene

  • Cornichon Family AMPA Receptor Auxiliary Protein 1 2 3 4 5
  • T-Cell Growth-Associated Molecule 77 3 4
  • CNIH-1 3 4
  • TGAM77 3 4
  • CNIH 3 4
  • CNIL 3 4
  • Cornichon Homolog (Drosophila) 2
  • Protein Cornichon Homolog 1 3
  • Protein Cornichon Homolog 4
  • Cornichon Homolog 3

External Ids for CNIH1 Gene

Previous HGNC Symbols for CNIH1 Gene

  • CNIH

Previous GeneCards Identifiers for CNIH1 Gene

  • GC14M054894

Summaries for CNIH1 Gene

GeneCards Summary for CNIH1 Gene

CNIH1 (Cornichon Family AMPA Receptor Auxiliary Protein 1) is a Protein Coding gene. Diseases associated with CNIH1 include Schizophrenia. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. An important paralog of this gene is CNIH3.

UniProtKB/Swiss-Prot for CNIH1 Gene

  • Involved in the selective transport and maturation of TGF-alpha family proteins.

Gene Wiki entry for CNIH1 Gene

Additional gene information for CNIH1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNIH1 Gene

Genomics for CNIH1 Gene

Regulatory Elements for CNIH1 Gene

Enhancers for CNIH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H054497 0.9 ENCODE 15.3 -56.7 -56675 1.8 ELF3 ATF1 ARID4B RARA CREM MIXL1 THAP11 HMG20B KAT8 NFIL3 CNIH1 GMFB CGRRF1
GH14H054439 1.1 ENCODE 12.1 +0.4 425 2.5 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 DEK ZNF592 ATG14 CNIH1 WDHD1 MAPK1IP1L CDKN3
GH14H054487 1.1 ENCODE 11 -48.0 -48008 3.8 HDGF PKNOX1 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 ZNF143 ZNF207 ATG14 BMP4 MAPK1IP1L SOCS4 ENSG00000259318 ENSG00000258753 ATP5C1P1 RPL34P28 COX5AP1 ENSG00000258050
GH14H054446 1.2 Ensembl ENCODE 10 -5.7 -5660 1.9 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 SLC30A9 GATA2 SP5 ZHX2 CNIH1 ENSG00000258753
GH14H054564 1.6 FANTOM5 ENCODE dbSUPER 6.5 -126.6 -126641 7.9 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 FOS CNIH1 LGALS3 SAMD4A LOC729451
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CNIH1 on UCSC Golden Path with GeneCards custom track

Promoters for CNIH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000068689 431 1601 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF143 DEK ZNF592 KAT8

Genomic Locations for CNIH1 Gene

Genomic Locations for CNIH1 Gene
17,872 bases
Minus strand

Genomic View for CNIH1 Gene

Genes around CNIH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNIH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNIH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNIH1 Gene

Proteins for CNIH1 Gene

  • Protein details for CNIH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein cornichon homolog 1
    Protein Accession:
    Secondary Accessions:
    • Q3SYM7

    Protein attributes for CNIH1 Gene

    144 amino acids
    Molecular mass:
    16699 Da
    Quaternary structure:
    • Interacts with AREG immature precursor and with immature TGFA, i.e. with a prosegment and lacking full N-glycosylation, but not with the fully N-glycosylated form. In the Golgi apparatus, may form a complex with GORASP55 and transmembrane TGFA.

neXtProt entry for CNIH1 Gene

Post-translational modifications for CNIH1 Gene

No Post-translational modifications

Other Protein References for CNIH1 Gene

No data available for DME Specific Peptides for CNIH1 Gene

Domains & Families for CNIH1 Gene

Gene Families for CNIH1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for CNIH1 Gene


Suggested Antigen Peptide Sequences for CNIH1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cornichon family.
  • Belongs to the cornichon family.
genes like me logo Genes that share domains with CNIH1: view

Function for CNIH1 Gene

Molecular function for CNIH1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the selective transport and maturation of TGF-alpha family proteins.
genes like me logo Genes that share phenotypes with CNIH1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CNIH1 Gene

Localization for CNIH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNIH1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane. Note=Located primarily in the ER; may cycle between the ER and the Golgi apparatus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNIH1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
golgi apparatus 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CNIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0012507 ER to Golgi transport vesicle membrane TAS --
genes like me logo Genes that share ontologies with CNIH1: view

Pathways & Interactions for CNIH1 Gene

genes like me logo Genes that share pathways with CNIH1: view

Gene Ontology (GO) - Biological Process for CNIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006955 immune response TAS 10209299
GO:0007165 signal transduction TAS 10209299
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with CNIH1: view

No data available for SIGNOR curated interactions for CNIH1 Gene

Drugs & Compounds for CNIH1 Gene

No Compound Related Data Available

Transcripts for CNIH1 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CNIH1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
SP2: -
SP3: - -
SP4: - -
SP5: - -

Relevant External Links for CNIH1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CNIH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CNIH1 Gene

Protein differential expression in normal tissues from HIPED for CNIH1 Gene

This gene is overexpressed in Ovary (59.0) and Liver (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CNIH1 Gene

Protein tissue co-expression partners for CNIH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CNIH1 Gene:


mRNA Expression by UniProt/SwissProt for CNIH1 Gene:

Tissue specificity: Highly expressed in heart, liver, skeletal muscle, pancreas, adrenal medulla and cortex, thyroid, testis, spleen, appendix, peripheral blood lymphocytes and bone marrow. Lower expression found in brain, placenta, lung, kidney, ovary, small intestine, stomach, lymph node, thymus and fetal liver. Expression is up-regulated in dorsolateral prefrontal cortex of patients with schizophrenia (postmortem brain study).

Evidence on tissue expression from TISSUES for CNIH1 Gene

  • Nervous system(4.6)
  • Blood(4.2)
  • Pancreas(4.2)
  • Skin(2.7)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with CNIH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CNIH1 Gene

Orthologs for CNIH1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CNIH1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CNIH 33 34
  • 99.54 (n)
(Bos Taurus)
Mammalia CNIH1 33
  • 97.22 (n)
  • 80 (a)
(Canis familiaris)
Mammalia CNIH1 33 34
  • 96.3 (n)
(Rattus norvegicus)
Mammalia Cnih1 33
  • 93.52 (n)
(Mus musculus)
Mammalia Cnih1 33 16 34
  • 91.9 (n)
(Monodelphis domestica)
Mammalia CNIH1 34
  • 89 (a)
(Gallus gallus)
Aves CNI 34
  • 99 (a)
  • 89.81 (n)
(Anolis carolinensis)
Reptilia CNIH1 34
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cnih1 33
  • 85.19 (n)
Str.6297 33
(Danio rerio)
Actinopterygii cnih1 33 34
  • 80.09 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008974 33
  • 63.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta cni 33 34
  • 60.88 (n)
(Caenorhabditis elegans)
Secernentea cni-1 34
  • 59 (a)
Y64H9A.1 34
  • 57 (a)
cnih-2 33
  • 56.02 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERV14 34
  • 33 (a)
ERV15 34
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5635 34
  • 80 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2430 33
Species where no ortholog for CNIH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNIH1 Gene

Gene Tree for CNIH1 (if available)
Gene Tree for CNIH1 (if available)

Paralogs for CNIH1 Gene

Paralogs for CNIH1 Gene

(4) SIMAP similar genes for CNIH1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CNIH1: view

Variants for CNIH1 Gene

Sequence variations from dbSNP and Humsavar for CNIH1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000041847 -- 54,439,549(+) CTTTC(C/T)TTCTT intron-variant
rs1000297023 -- 54,433,112(+) AAAGA(G/T)TTCAG intron-variant
rs1000343156 -- 54,427,329(+) ATCGA(C/T)ATGAC utr-variant-3-prime
rs1000407415 -- 54,426,516(+) TTCCT(C/T)ATCCC downstream-variant-500B
rs1000580827 -- 54,434,273(+) AAAAA(C/T)GTCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNIH1 Gene

Variant ID Type Subtype PubMed ID
nsv832802 CNV loss 17160897

Variation tolerance for CNIH1 Gene

Residual Variation Intolerance Score: 55.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.14; 3.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNIH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNIH1 Gene

Disorders for CNIH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CNIH1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
Search CNIH1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CNIH1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CNIH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNIH1 Gene

Publications for CNIH1 Gene

  1. The human homolog of Drosophila cornichon protein is differentially expressed in alloactivated T-cells. (PMID: 10209299) Utku N … Gullans SR (Biochimica et biophysica acta 1999) 2 3 4 60
  2. Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophrenia. (PMID: 23103966) Drummond JB … Meador-Woodruff JH (Neuroreport 2012) 3 4 60
  3. Cornichon regulates transport and secretion of TGFalpha-related proteins in metazoan cells. (PMID: 17607000) Castro CP … Derynck R (Journal of cell science 2007) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 60

Products for CNIH1 Gene

Sources for CNIH1 Gene

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