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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 Metabolism of proteins. 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

GeneHancer (GH) Regulatory Elements for CNIH1 Gene

Promoters and enhancers for CNIH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J054439 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 662.1 +0.4 424 2.5 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF207 ZNF143 DEK CNIH1 ATG14 WDHD1 MAPK1IP1L CDKN3 GC14P054145
GH14J054453 Promoter 0.6 EPDnew 657.5 -12.1 -12086 0.1 PKNOX1 CNIH1 ENSG00000258753 GC14P054145
GH14J054487 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11 -48.0 -48008 3.8 HDGF PKNOX1 CLOCK ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 ZNF207 GMFB ATG14 BMP4 MAPK1IP1L SOCS4 ENSG00000259318 ENSG00000258753 ATP5F1CP1 ENSG00000258050 RPL34P28
GH14J054564 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.5 -126.6 -126640 7.9 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF213 SAMD4A MAPK1IP1L ATG14 CNIH1 LGALS3 LOC729451 GC14P054145
GH14J054395 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 7.7 +44.2 44180 2.7 HDGF PKNOX1 CLOCK ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF416 CDKN3 MAPK1IP1L SOCS4 WDHD1 BMP4 CNIH1 GC14P054145
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNIH1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CNIH1 Gene

Genomic Locations for CNIH1 Gene
chr14:54,423,560-54,441,431
(GRCh38/hg38)
Size:
17,872 bases
Orientation:
Minus strand
chr14:54,893,647-54,908,149
(GRCh37/hg19)
Size:
14,503 bases
Orientation:
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:
    O95406-CNIH1_HUMAN
    Recommended name:
    Protein cornichon homolog 1
    Protein Accession:
    O95406
    Secondary Accessions:
    • Q3SYM7

    Protein attributes for CNIH1 Gene

    Size:
    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

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CNIH1 Gene

Graphical View of Domain Structure for InterPro Entry

O95406

UniProtKB/Swiss-Prot:

CNIH1_HUMAN :
  • Belongs to the cornichon family.
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

  • Taconic Biosciences Mouse Models for CNIH1

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

COMPARTMENTS
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: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 --
GO:0048208 COPII vesicle coating TAS --
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

mRNA/cDNA for CNIH1 Gene

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
SP1:
SP2: -
SP3: - -
SP4: - -
SP5: - -

Relevant External Links for CNIH1 Gene

GeneLoc Exon Structure for
CNIH1
ECgene alternative splicing isoforms for
CNIH1

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, MaxQB, and MOPED for CNIH1 Gene



Protein tissue co-expression partners for CNIH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CNIH1 Gene:

CNIH1

mRNA Expression by UniProt/SwissProt for CNIH1 Gene:

O95406-CNIH1_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia CNIH 34 33
  • 99.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CNIH1 33
  • 97.22 (n)
CNIH 34
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNIH1 34 33
  • 96.3 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cnih1 33
  • 93.52 (n)
mouse
(Mus musculus)
Mammalia Cnih1 16 34 33
  • 91.9 (n)
oppossum
(Monodelphis domestica)
Mammalia CNIH1 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNI 34
  • 99 (a)
OneToOne
CNIH 33
  • 89.81 (n)
lizard
(Anolis carolinensis)
Reptilia CNIH1 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cnih1 33
  • 85.19 (n)
Str.6297 33
zebrafish
(Danio rerio)
Actinopterygii cnih1 34 33
  • 80.09 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008974 33
  • 63.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta cni 34 33
  • 60.88 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cni-1 34
  • 59 (a)
ManyToMany
Y64H9A.1 34
  • 57 (a)
ManyToMany
cnih-2 33
  • 56.02 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERV14 34
  • 33 (a)
ManyToMany
ERV15 34
  • 31 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5635 34
  • 80 (a)
OneToMany
Cin.2430 33
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

ENSEMBL:
Gene Tree for CNIH1 (if available)
TreeFam:
Gene Tree for CNIH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNIH1: view image

Paralogs for CNIH1 Gene

Paralogs for CNIH1 Gene

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

  • CNIH1_HUMAN
  • A8MVW4_HUMAN
  • G3V3B2_HUMAN
  • G3V474_HUMAN
  • G3V4K0_HUMAN
  • G3V5P8_HUMAN
  • G3V5Q6_HUMAN
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 Variation AA Info Type
rs1000041847 -- 54,439,549(-) T/C intron_variant
rs1000297023 -- 54,433,112(-) T/C/G intron_variant
rs1000343156 -- 54,427,329(-) C/T 3_prime_UTR_variant
rs1000407415 -- 54,426,516(-) C/T downstream_transcript_variant
rs1000580827 -- 54,434,273(-) C/T 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)

Additional Variant Information for CNIH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNIH1

SNP Genotyping and Copy Number Assay Products

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
  • sczd
- elite association - COSMIC cancer census association via MalaCards
Search CNIH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CNIH1

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 58
  2. Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophrenia. (PMID: 23103966) Drummond JB … Meador-Woodruff JH (Neuroreport 2012) 3 4 58
  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 58
  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 58
  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 58

Products for CNIH1 Gene

Sources for CNIH1 Gene

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