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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 CNIH2.

UniProtKB/Swiss-Prot for CNIH1 Gene

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

Gene Wiki entry for CNIH1 Gene

No data available for Entrez Gene 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
GH14F054386 0.4 ENCODE 15.4 +53.9 53937 1.4 GATAD2A CNIH1 PIR46664 GC14P054217
GH14F054497 0.6 ENCODE 15.3 -56.7 -56675 1.8 ELF3 ATF1 ARID4B RARA CREM MIXL1 THAP11 HMG20B KAT8 KLF16 CNIH1 GMFB CGRRF1
GH14F054463 0.2 Ensembl 12.2 -21.9 -21870 0.2 REST CNIH1 CGRRF1 ENSG00000258753
GH14F054439 0.7 ENCODE 12.1 +0.4 425 2.5 PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF263 TBX21 KAT8 SSRP1 CNIH1 CDKN3
GH14F054481 0.2 ENCODE 11.2 -40.8 -40808 0.9 SP7 CGRRF1 CNIH1 GMFB ENSG00000258753
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000180382 531 2201 PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF263 TBX21 KAT8 SSRP1

Genomic Location for CNIH1 Gene

Chromosome:
14
Start:
54,423,560 bp from pter
End:
54,441,431 bp from pter
Size:
17,872 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

Protein Domains for CNIH1 Gene

InterPro:
Blocks:
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

No data available for Gene Families for CNIH1 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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.

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 IEA,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

No data available for Subcellular locations from COMPARTMENTS for CNIH1 Gene

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

Transcripts for CNIH1 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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:

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).
genes like me logo Genes that share expression patterns with CNIH1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 35
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia CNIH1 34
  • 97.22 (n)
CNIH 35
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNIH1 34 35
  • 96.3 (n)
rat
(Rattus norvegicus)
Mammalia Cnih1 34
  • 93.52 (n)
mouse
(Mus musculus)
Mammalia Cnih1 34 16 35
  • 91.9 (n)
oppossum
(Monodelphis domestica)
Mammalia CNIH1 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNI 35
  • 99 (a)
OneToOne
CNIH 34
  • 89.81 (n)
lizard
(Anolis carolinensis)
Reptilia CNIH1 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cnih1 34
  • 85.19 (n)
Str.6297 34
zebrafish
(Danio rerio)
Actinopterygii cnih1 34 35
  • 80.09 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008974 34
  • 63.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta cni 34 35
  • 60.88 (n)
worm
(Caenorhabditis elegans)
Secernentea cni-1 35
  • 59 (a)
ManyToMany
Y64H9A.1 35
  • 57 (a)
ManyToMany
cnih-2 34
  • 56.02 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERV14 35
  • 33 (a)
ManyToMany
ERV15 35
  • 31 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5635 35
  • 80 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2430 34
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)

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
rs10131237 -- 54,429,549(+) aggtc(A/G)ggagt intron-variant
rs10131254 -- 54,429,618(+) gccgg(A/G)cgtgg intron-variant
rs10134913 -- 54,431,157(+) agagt(C/G)ttgct intron-variant
rs10142290 -- 54,434,530(+) tttac(C/T)ctcct intron-variant
rs10144380 -- 54,426,663(+) GTAAA(A/C)TATTT downstream-variant-500B

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
CNIH1

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
  • 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:
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 S.R. (Biochim. Biophys. Acta 1999) 2 3 4 64
  2. Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophrenia. (PMID: 23103966) Drummond J.B. … Meador-Woodruff J.H. (Neuroreport 2012) 3 4 64
  3. Cornichon regulates transport and secretion of TGFalpha-related proteins in metazoan cells. (PMID: 17607000) Perez Castro C. … Derynck R. (J. Cell Sci. 2007) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 H.F. … Gray A.M. (Genome Res. 2003) 3 4 64

Products for CNIH1 Gene

Sources for CNIH1 Gene

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