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

    Gene ID: 10175, updated on 27-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Ubiquitous expression in liver (RPKM 47.9), duodenum (RPKM 41.3) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CNIH1 in Genome Data Viewer
    Location:
    14q22.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (54423561..54441374, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (48628725..48646539, complement)
    RS_2024_09 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

    Expression

    • 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC117156

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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)

    NEW Try the new Transcript table

    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_005776.3NP_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:7135
      Cornichon; Cornichon protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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.