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    CNKSR3 CNKSR family member 3 [ Homo sapiens (human) ]

    Gene ID: 154043, updated on 10-Dec-2024

    Summary

    Official Symbol
    CNKSR3provided by HGNC
    Official Full Name
    CNKSR family member 3provided by HGNC
    Primary source
    HGNC:HGNC:23034
    See related
    Ensembl:ENSG00000153721 MIM:617476; AllianceGenome:HGNC:23034
    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
    CNK3; MAGI1; CNK3/IPCEF1
    Summary
    Predicted to be involved in negative regulation of ERK1 and ERK2 cascade; negative regulation of peptidyl-serine phosphorylation; and positive regulation of sodium ion transport. Predicted to act upstream of or within positive regulation of sodium ion transmembrane transporter activity. Predicted to be located in apical plasma membrane and cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in esophagus (RPKM 6.3), kidney (RPKM 5.3) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CNKSR3 in Genome Data Viewer
    Location:
    6q25.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (154387515..154510685, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (155589037..155712112, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (154708649..154831819, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene opioid receptor mu 1 Neighboring gene interaction protein for cytohesin exchange factors 1 Neighboring gene MPRA-validated peak6225 silencer Neighboring gene ribosomal protein L17 pseudogene 24 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25296 Neighboring gene MPRA-validated peak6226 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:154663434-154664366 Neighboring gene uncharacterized LOC105378067 Neighboring gene Sharpr-MPRA regulatory region 5073 Neighboring gene MPRA-validated peak6228 silencer Neighboring gene uncharacterized LOC101928868 Neighboring gene CRISPRi-validated cis-regulatory element chr6.5343 Neighboring gene NANOG hESC enhancer GRCh37_chr6:154846819-154847347 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:154863543-154864453 Neighboring gene MTRES1 pseudogene 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (13 hits/1266 screens)

    EBI GWAS Catalog

    Description
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog
    Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • FLJ31349

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in negative regulation of ERK1 and ERK2 cascade  
    involved_in negative regulation of peptidyl-serine phosphorylation  
    involved_in positive regulation of sodium ion transport  
    Component Evidence Code Pubs
    located_in apical plasma membrane  
    located_in cytoplasm  

    General protein information

    Preferred Names
    connector enhancer of kinase suppressor of ras 3
    Names
    CNK homolog protein 3
    connector enhancer of KSR 3
    maguin-like protein
    membrane associated guanylate kinase, WW and PDZ domain containing 1
    membrane-associated guanylate kinase-interacting protein-like 1

    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_001368116.1NP_001355045.1  connector enhancer of kinase suppressor of ras 3 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL357075
    2. NM_001368117.1NP_001355046.1  connector enhancer of kinase suppressor of ras 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL357075
    3. NM_001368118.1NP_001355047.1  connector enhancer of kinase suppressor of ras 3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AK309680, AL357075
      Consensus CDS
      CCDS94023.1
      UniProtKB/TrEMBL
      A0A5H1ZRR2
      Related
      ENSP00000418975.1, ENST00000479339.5
      Conserved Domains (3) summary
      pfam06663
      Location:252465
      DUF1170; Protein of unknown function (DUF1170)
      pfam10534
      Location:192
      CRIC_ras_sig; Connector enhancer of kinase suppressor of ras
      cl00117
      Location:141225
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...
    4. NM_001368119.1NP_001355048.1  connector enhancer of kinase suppressor of ras 3 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL357075, AY328894
      Related
      ENST00000433165.6
    5. NM_173515.4NP_775786.2  connector enhancer of kinase suppressor of ras 3 isoform 2

      See identical proteins and their annotated locations for NP_775786.2

      Status: VALIDATED

      Source sequence(s)
      AK055911, AL033376, AL357075, AL590401, AY328892, AY328893, BC060761
      Consensus CDS
      CCDS5246.1
      UniProtKB/Swiss-Prot
      C9IZX4, Q5SGD5, Q6P9H4, Q96N65
      Related
      ENSP00000475915.1, ENST00000607772.6
      Conserved Domains (4) summary
      cd09511
      Location:472
      SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily
      pfam06663
      Location:334545
      DUF1170; Protein of unknown function (DUF1170)
      pfam10534
      Location:80171
      CRIC_ras_sig; Connector enhancer of kinase suppressor of ras
      cl00117
      Location:221305
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      154387515..154510685 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      155589037..155712112 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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