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CNIH1 Gene

protein-coding   GIFtS: 36
GCID: GC14M054894

Cornichon Family AMPA Receptor Auxiliary Protein 1

(Previous name: cornichon homolog (Drosophila))
(Previous symbol: CNIH)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cornichon Family AMPA Receptor Auxiliary Protein 11 2 3     T-Cell Growth-Associated Molecule 772 3
CNIH1 2 3 5     Cornichon Homolog (Drosophila)1
TGAM772 3 5     Cornichon Homolog2
CNIH-12 3     Protein Cornichon Homolog 12
CNIL2 3     Protein Cornichon Homolog3

External Ids:    HGNC: 194311   Entrez Gene: 101752   Ensembl: ENSG000001005287   OMIM: 6112875   UniProtKB: O954063   

Export aliases for CNIH1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CNIH1 Gene:
CNIH1 (cornichon family AMPA receptor auxiliary protein 1) is a protein-coding gene. An important paralog of this gene is CNIH3.

UniProtKB/Swiss-Prot: CNIH1_HUMAN, O95406
Function: Involved in the selective transport and maturation of TGF-alpha family proteins

Gene Wiki entry for CNIH1 (CNIH) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for CNIH1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNIH1 promoter sequence
   Search Chromatin IP Primers for CNIH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CNIH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q22.2   Ensembl cytogenetic band:  14q22.2   HGNC cytogenetic band: 14q22.1

CNIH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNIH1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M054894:  view genomic region     (about GC identifiers)

Start:
54,893,647 bp from pter      End:
54,908,149 bp from pter
Size:
14,503 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CNIH1_HUMAN, O95406 (See protein sequence)
Recommended Name: Protein cornichon homolog 1  
Size: 144 amino acids; 16699 Da
Subunit: 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
Secondary accessions: Q3SYM7

Explore the universe of human proteins at neXtProt for CNIH1: NX_O95406

Explore proteomics data for CNIH1 at MOPED


See CNIH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_005767.1  
ENSEMBL proteins: 
 ENSP00000378940   ENSP00000216416   ENSP00000451640   ENSP00000452457   ENSP00000451852  
 ENSP00000452466   ENSP00000451142  

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antibodies-online proteins for CNIH1 (2 products) 

 
antibodies-online peptides for CNIH1

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antibodies-online antibodies for CNIH1 (10 products) 

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antibodies-online kits for CNIH1 (6 products) 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR003377 Cornichon

Graphical View of Domain Structure for InterPro Entry O95406

ProtoNet protein and cluster: O95406

1 Blocks protein domain: IPB003377 Cornichon

UniProtKB/Swiss-Prot: CNIH1_HUMAN, O95406
Similarity: Belongs to the cornichon family


Find genes that share domains with CNIH1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: CNIH1_HUMAN, O95406
Function: Involved in the selective transport and maturation of TGF-alpha family proteins

Phenotypes:
     2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cnih):

 behavior/neurological  growth/size/body 

Find genes that share phenotypes with CNIH1           About GenesLikeMe

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for CNIH1

miRNA
Products:
    
miRTarBase miRNAs that target CNIH1:
hsa-mir-33a-3p (MIRT038927), hsa-mir-98-5p (MIRT027652)

Block miRNA regulation of human, mouse, rat CNIH1 using miScript Target Protectors
Search for qRT-PCR Assays for microRNAs that regulate CNIH1
SwitchGear 3'UTR luciferase reporter plasmidCNIH1 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat CNIH1

Gene Editing
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNIH1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CNIH1_HUMAN, O95406: 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): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000139Golgi membrane IEA--
GO:0005789endoplasmic reticulum membrane IEA--
GO:0016020membrane ----
GO:0016021integral component of membrane IEA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CNIH1
Interactions:

    Search GeneGlobe Interaction Network for CNIH1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for CNIH1 (ENSP000002164164) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
InteractantInteraction Details
GeneCardExternal ID(s)
RCE1ENSP000003091634STRING: ENSP00000309163
VAPAENSP000003456564STRING: ENSP00000345656
VAPBENSP000004171754STRING: ENSP00000417175
GOLT1AENSP000003085354STRING: ENSP00000308535
GOLT1BENSP000002293144STRING: ENSP00000229314
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Gene Ontology (GO): 4 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006955immune response TAS10209299
GO:0007165signal transduction TAS10209299
GO:0016192vesicle-mediated transport IEA--
GO:0035556intracellular signal transduction IEA--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for CNIH1



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for CNIH1 gene (2 alternative transcripts): 
NM_001009551.1  NM_005776.2  

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000395573 ENST00000216416(uc001xat.1 uc001xav.1) ENST00000557659
ENST00000553660 ENST00000557690 ENST00000554683 ENST00000556113
miRNA
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Primer
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OriGene qPCR primer pairs and template standards for CNIH1
OriGene qSTAR qPCR primer pairs in human, mouse for CNIH1
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  QuantiTect SYBR Green Assays in human, mouse, rat CNIH1
  QuantiFast Probe-based Assays in human, mouse, rat CNIH1

Selected AceView cDNA sequences (see all 601):

BQ937490 AA297245 BM451142 CK902467 AA521110 AI004758 BM887731 BM742034 
BQ694198 BM968493 BM745592 AA488843 BF439850 AA976023 BF034555 CA487373 
CA432053 AV708145 BG287652 AA975196 BE745778 BQ432246 AW167056 BM907359 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for CNIH1    About this scheme

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


ECgene alternative splicing isoforms for CNIH1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CNIH1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
CNIH1 Expression
About this image

CNIH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CNIH1 Protein Expression

UniProtKB/Swiss-Prot: CNIH1_HUMAN, O95406
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)

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNIH1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for CNIH1 gene from Selected species (see all 17)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cnih5
Cnih11
cornichon homolog (Drosophila)5
cornichon homolog 1 (Drosophila)1
91.9(n)1
100(a)1
  14 (24.29 cM)5
127931  NM_009919.21  NP_034049.21 
 467755825 
chicken
(Gallus gallus)
Aves CNIH1 cornichon homolog (Drosophila) 89.81(n)
99.31(a)
  423561  NM_001033006.1  NP_001028178.1 
lizard
(Anolis carolinensis)
Reptilia CNIH16
cornichon family AMPA receptor auxiliary protein 1...
89(a)
1 ↔ 1
GL343533.1(209278-222430)
African clawed frog
(Xenopus laevis)
Amphibia BJ613139.12   -- 84.53(n)    BJ613139.1 
zebrafish
(Danio rerio)
Actinopterygii cnih11 cornichon family AMPA receptor auxiliary protein 1 80.09(n)
96.53(a)
  406282  NM_001033106.1  NP_001028278.1 
fruit fly
(Drosophila melanogaster)
Insecta cni1 cornichon 60.88(n)
66.67(a)
  34967  NM_165151.2  NP_723959.1 
worm
(Caenorhabditis elegans)
Secernentea cnih-21 cnih-2 56.02(n)
59.03(a)
  179801  NM_073877.4  NP_506278.1 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERV146
ERV156
Protein localized to COPII-coated vesicles, involv...
Protein involved in export of proteins from the en...
33(a)
31(a)
many ↔ many
many ↔ many
VII(400871-401287) YGL054C
II(645550-645978) YBR210W


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CNIH1 gene
CNIH32  CNIH42  CNIH22  
4 SIMAP similar genes for CNIH1 using alignment to 7 protein entries:     CNIH1_HUMAN (see all proteins):
CNIH    CNIH2    CNIH3    CNIH4

Find genes that share paralogs with CNIH1           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CNIH1 (see all 313)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 14 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs101443801,2
C,F,H--54893381(+) GTAAAA/CTATTT 1 -- ds50018Minor allele frequency- C:0.10NS EA NA WA 634
rs797532471,2
F--54893414(+) TAATTG/AGTAAG 1 -- ds50011Minor allele frequency- A:0.02EA 120
rs558407161,2
C,F--54893505(+) TTTTCC/TTTTTT 1 -- ds50011Minor allele frequency- T:0.03NA 120
rs116265961,2
C,F,H--54893553(+) TAGTAC/TGTCAC 1 -- ds50019Minor allele frequency- T:0.02NS EA NA 1098
rs1824834111,2
--54893797(+) TAACCA/CATTTC 1 -- ut310--------
rs1512000061,2
C--54893826(+) CAAAT-/AAAAACA 1 -- ut310--------
rs1386168801,2
--54893843(+) AAAATA/GGCTTT 1 -- ut310--------
rs747076901,2
C,F--54894057(+) CAGATG/TAGGAA 1 -- ut313Minor allele frequency- T:0.07CSA WA 122
rs1867640331,2
--54894104(+) CACTTC/TATCAG 1 -- ut310--------
rs1911707761,2
--54894205(+) CAATGC/TACTAG 1 -- ut310--------

HapMap Linkage Disequilibrium report for CNIH1 (54893647 - 54908149 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for CNIH1: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing CNIH1
DNA2.0 Custom Variant and Variant Library Synthesis for CNIH1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 611287    OMIM disorders: --


Find genes that share disorders with CNIH1           About GenesLikeMe


Export disorders for CNIH1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for CNIH1 gene, integrated from 10 sources (see all 14):
(articles sorted by number of sources associating them with CNIH1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The human homolog of Drosophila cornichon protein is differentially expressed in alloactivated T-cells. (PubMed id 10209299)1, 2, 3 Utku N.... Gullans S.R. (Biochim. Biophys. Acta 1999)
  2. Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophrenia. (PubMed id 23103966)1, 2 Drummond J.B....Meador-Woodruff J.H. (Neuroreport 2012)
  3. Cornichon regulates transport and secretion of TGFalpha-related proteins in metazoan cells. (PubMed id 17607000)1, 2 Perez Castro C.... Derynck R. (J. Cell Sci. 2007)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
  6. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
  7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  8. AMPA receptor modulation by cornichon-2 dictated by transmembrane AMPA receptor regulatory protein isoform. (PubMed id 22211840)1 Gill M.B....Bredt D.S. (Eur. J. Neurosci. 2012)
  9. Genome-wide association scan of dental caries in the permanent dentition. (PubMed id 23259602)1 Wang X....Marazita M.L. (BMC Oral Health 2012)
  10. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1 Otsuki T....Isogai T. (DNA Res. 2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 10175 HGNC: 19431 AceView: CNIH Ensembl:ENSG00000100528 euGenes: HUgn10175
ECgene: CNIH1 H-InvDB: CNIH1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CNIH1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CNIH1 gene:
Search GeneIP for patents involving CNIH1

GeneCards and IP:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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