This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript v... See more...

Aliases for CNKSR1 Gene

Aliases for CNKSR1 Gene

  • Connector Enhancer Of Kinase Suppressor Of Ras 1 2 3 3 4 5
  • CNK1 2 3 4
  • Connector Enhancer Of KSR-Like 3 4
  • Connector Enhancer Of KSR 1 3 4
  • CNK Homolog Protein 1 3 4
  • CNK 2 3
  • CNKSR1 5
  • HCNK1 4
  • KSR 2

External Ids for CNKSR1 Gene

Previous GeneCards Identifiers for CNKSR1 Gene

  • GC01P026109
  • GC01P026188
  • GC01P026376
  • GC01P026503
  • GC01P024758

Summaries for CNKSR1 Gene

Entrez Gene Summary for CNKSR1 Gene

  • This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for CNKSR1 Gene

CNKSR1 (Connector Enhancer Of Kinase Suppressor Of Ras 1) is a Protein Coding gene. Diseases associated with CNKSR1 include Usher Syndrome. Among its related pathways are RET signaling and Ceramide Pathway. Gene Ontology (GO) annotations related to this gene include kinase activity and protein binding, bridging. An important paralog of this gene is CNKSR2.

UniProtKB/Swiss-Prot Summary for CNKSR1 Gene

  • May function as an adapter protein or regulator of Ras signaling pathways.

Gene Wiki entry for CNKSR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNKSR1 Gene

Genomics for CNKSR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CNKSR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNKSR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNKSR1

Top Transcription factor binding sites by QIAGEN in the CNKSR1 gene promoter:
  • AP-1
  • ATF
  • ATF-2
  • c-Jun
  • HEN1

Genomic Locations for CNKSR1 Gene

Latest Assembly
chr1:26,177,484-26,189,884
(GRCh38/hg38)
Size:
12,401 bases
Orientation:
Plus strand

Previous Assembly
chr1:26,503,982-26,516,375
(GRCh37/hg19 by Entrez Gene)
Size:
12,394 bases
Orientation:
Plus strand

chr1:26,503,894-26,516,377
(GRCh37/hg19 by Ensembl)
Size:
12,484 bases
Orientation:
Plus strand

Genomic View for CNKSR1 Gene

Genes around CNKSR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNKSR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNKSR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNKSR1 Gene

Proteins for CNKSR1 Gene

  • Protein details for CNKSR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969H4-CNKR1_HUMAN
    Recommended name:
    Connector enhancer of kinase suppressor of ras 1
    Protein Accession:
    Q969H4
    Secondary Accessions:
    • B1AMW9
    • O95381

    Protein attributes for CNKSR1 Gene

    Size:
    720 amino acids
    Molecular mass:
    79706 Da
    Quaternary structure:
    • Interacts with RHO and RALGDS.

    Three dimensional structures from OCA and Proteopedia for CNKSR1 Gene

    Alternative splice isoforms for CNKSR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNKSR1 Gene

Post-translational modifications for CNKSR1 Gene

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for CNKSR1

No data available for DME Specific Peptides for CNKSR1 Gene

Domains & Families for CNKSR1 Gene

Gene Families for CNKSR1 Gene

Protein Domains for CNKSR1 Gene

InterPro:
Blocks:
  • Sterile alpha motif SAM
  • Sterile alpha motif homology 2
  • Pleckstrin-like

Suggested Antigen Peptide Sequences for CNKSR1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59272, highly similar to Connector enhancer of kinase suppressor of ras 1 (B4DXN4_HUMAN)
  • Connector enhancer of KSR-like (CNKR1_HUMAN)
  • Connector enhancer of kinase suppressor of Ras 1, isoform CRA_b (Q53GM7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q969H4

UniProtKB/Swiss-Prot:

CNKR1_HUMAN :
  • Belongs to the CNKSR family.
Family:
  • Belongs to the CNKSR family.
genes like me logo Genes that share domains with CNKSR1: view

Function for CNKSR1 Gene

Molecular function for CNKSR1 Gene

UniProtKB/Swiss-Prot Function:
May function as an adapter protein or regulator of Ras signaling pathways.

Phenotypes From GWAS Catalog for CNKSR1 Gene

Gene Ontology (GO) - Molecular Function for CNKSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0016301 kinase activity IEA --
GO:0030674 protein binding, bridging IDA 14749388
genes like me logo Genes that share ontologies with CNKSR1: view
genes like me logo Genes that share phenotypes with CNKSR1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNKSR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CNKSR1 Gene

Localization for CNKSR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNKSR1 Gene

Cytoplasm. Membrane. Peripheral membrane protein.

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 CNKSR1 gene
Compartment Confidence
plasma membrane 4
cytosol 4
nucleus 3
cytoskeleton 2
golgi apparatus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CNKSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS 9814705
GO:0005911 cell-cell junction TAS 9814705
GO:0005938 cell cortex IDA 15075335
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CNKSR1: view

Pathways & Interactions for CNKSR1 Gene

PathCards logo

SuperPathways for CNKSR1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Paradoxical activation of RAF signaling by kinase inactive BRAF
3 ERK Signaling
.61
.58
4 Developmental Biology
5 Cytokine Signaling in Immune system
genes like me logo Genes that share pathways with CNKSR1: view

Pathways by source for CNKSR1 Gene

3 Qiagen pathways for CNKSR1 Gene
  • Ceramide Pathway
  • ERK Signaling
  • MAPK Signaling

SIGNOR curated interactions for CNKSR1 Gene

Activates:

Gene Ontology (GO) - Biological Process for CNKSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway TAS 9814705
GO:0007265 Ras protein signal transduction IPI 14749388
GO:0007266 Rho protein signal transduction IPI 14749388
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with CNKSR1: view

Drugs & Compounds for CNKSR1 Gene

(3) Drugs for CNKSR1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CNKSR1: view

Transcripts for CNKSR1 Gene

mRNA/cDNA for CNKSR1 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNKSR1

Alternative Splicing Database (ASD) splice patterns (SP) for CNKSR1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a ·
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - -
SP5: - - - -
SP6: - -
SP7:
SP8:
SP9: -

ExUns: 17b ^ 18 ^ 19 ^ 20 ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for CNKSR1 Gene

GeneLoc Exon Structure for
CNKSR1

Expression for CNKSR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CNKSR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNKSR1 Gene

This gene is overexpressed in Muscle - Skeletal (x7.2).

Protein differential expression in normal tissues from HIPED for CNKSR1 Gene

This gene is overexpressed in Frontal cortex (50.9), Placenta (11.6), and Bone marrow mesenchymal stem cell (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CNKSR1 Gene



Protein tissue co-expression partners for CNKSR1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNKSR1

SOURCE GeneReport for Unigene cluster for CNKSR1 Gene:

Hs.16232

Evidence on tissue expression from TISSUES for CNKSR1 Gene

  • Muscle(2.4)
genes like me logo Genes that share expression patterns with CNKSR1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CNKSR1 Gene

Orthologs for CNKSR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNKSR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CNKSR1 29
  • 99.1 (n)
Dog
(Canis familiaris)
Mammalia CNKSR1 29 30
  • 85.13 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 30
  • 85 (a)
OneToMany
LOC617552 29
  • 83.22 (n)
-- 30
  • 77 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Cnksr1 29 16 30
  • 81.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cnksr1 29
  • 80.2 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CNKSR1 30
  • 73 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CNKSR1 30
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CNKSR1 29 30
  • 62.8 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CNKSR1 30
  • 45 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cnksr1 29
  • 53.84 (n)
Zebrafish
(Danio rerio)
Actinopterygii cnksr1 29 30
  • 54.71 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta cnk 30
  • 11 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cnk-1 30
  • 16 (a)
OneToMany
Species where no ortholog for CNKSR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 CNKSR1 Gene

ENSEMBL:
Gene Tree for CNKSR1 (if available)
TreeFam:
Gene Tree for CNKSR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNKSR1: view image
Alliance of Genome Resources:
Additional Orthologs for CNKSR1

Paralogs for CNKSR1 Gene

Paralogs for CNKSR1 Gene

(1) SIMAP similar genes for CNKSR1 Gene using alignment to 7 proteins:

  • CNKR1_HUMAN
  • B4DXN4_HUMAN
  • E9PIE0_HUMAN
  • E9PS82_HUMAN
  • G3V160_HUMAN
  • H0YDP5_HUMAN
  • Q53GM7_HUMAN
genes like me logo Genes that share paralogs with CNKSR1: view

Variants for CNKSR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNKSR1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1045105 Benign: not provided 26,189,465(+) C/T
NM_006314.3(CNKSR1):c.2059C>T (p.His687Tyr)
MISSENSE
rs113455721 Benign: not provided 26,177,556(+) G/A
NM_006314.3(CNKSR1):c.9G>A (p.Pro3=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs114282407 Benign: not provided 26,180,741(+) G/A
NM_006314.3(CNKSR1):c.237G>A (p.Leu79=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs114834643 Benign: not provided 26,181,848(+) C/T
NM_006314.3(CNKSR1):c.393-9C>T
INTRON
rs115680702 Benign: not provided 26,187,449(+) T/C
NM_006314.3(CNKSR1):c.1421T>C (p.Ile474Thr)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CNKSR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CNKSR1 Gene

Variant ID Type Subtype PubMed ID
esv3577792 CNV loss 25503493
nsv1002191 CNV gain 25217958

Variation tolerance for CNKSR1 Gene

Residual Variation Intolerance Score: 77.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.60; 72.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNKSR1 Gene

Human Gene Mutation Database (HGMD)
CNKSR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNKSR1
Leiden Open Variation Database (LOVD)
CNKSR1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNKSR1 Gene

Disorders for CNKSR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CNKSR1 Gene - From: GCD

Disorder Aliases PubMed IDs
usher syndrome
  • deafness-retinitis pigmentosa syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CNKSR1

genes like me logo Genes that share disorders with CNKSR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNKSR1 Gene

Publications for CNKSR1 Gene

  1. CNK, a RAF-binding multidomain protein required for RAS signaling. (PMID: 9814705) Therrien M … Rubin GM (Cell 1998) 2 3 4 22
  2. Human CNK1 acts as a scaffold protein, linking Rho and Ras signal transduction pathways. (PMID: 14749388) Jaffe AB … Hall A (Molecular and cellular biology 2004) 3 4 22
  3. Carbohydrate-specific signaling through the DC-SIGN signalosome tailors immunity to Mycobacterium tuberculosis, HIV-1 and Helicobacter pylori. (PMID: 19718030) Gringhuis SI … Geijtenbeek TB (Nature immunology 2009) 3 22
  4. CNK and HYP form a discrete dimer by their SAM domains to mediate RAF kinase signaling. (PMID: 18287031) Rajakulendran T … Sicheri F (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 22
  5. KSR and CNK: two scaffolds regulating RAS-mediated RAF activation. (PMID: 17496912) Clapéron A … Therrien M (Oncogene 2007) 3 22

Products for CNKSR1 Gene

Sources for CNKSR1 Gene