Aliases for SBK1 Gene

Aliases for SBK1 Gene

  • SH3 Domain Binding Kinase 1 2 3 5
  • Serine/Threonine-Protein Kinase SBK1 3 4
  • SH3-Binding Domain Kinase 1 2 3
  • EC 2.7.11.1 4 51
  • SH3-Binding Kinase 1 4
  • EC 2.7.11 51
  • SBK1 5
  • SBK 3
  • Sbk 2

External Ids for SBK1 Gene

Previous GeneCards Identifiers for SBK1 Gene

  • GC16P028160
  • GC16P028211
  • GC16P026395

Summaries for SBK1 Gene

GeneCards Summary for SBK1 Gene

SBK1 (SH3 Domain Binding Kinase 1) is a Protein Coding gene. Diseases associated with SBK1 include Punctate Epithelial Keratoconjunctivitis and Corneal Ectasia. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is SBK3.

UniProtKB/Swiss-Prot Summary for SBK1 Gene

  • May be involved in signal-transduction pathways related to the control of brain development.

Additional gene information for SBK1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SBK1 Gene

Genomics for SBK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SBK1 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 SBK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SBK1

Top Transcription factor binding sites by QIAGEN in the SBK1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • c-Ets-1
  • Chx10
  • CUTL1
  • MIF-1
  • NRSF form 1
  • NRSF form 2

Genomic Locations for SBK1 Gene

Genomic Locations for SBK1 Gene
chr16:28,258,628-28,323,849
(GRCh38/hg38)
Size:
65,222 bases
Orientation:
Plus strand
chr16:28,303,840-28,335,170
(GRCh37/hg19)
Size:
31,331 bases
Orientation:
Plus strand

Genomic View for SBK1 Gene

Genes around SBK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SBK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SBK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SBK1 Gene

Proteins for SBK1 Gene

  • Protein details for SBK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q52WX2-SBK1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase SBK1
    Protein Accession:
    Q52WX2

    Protein attributes for SBK1 Gene

    Size:
    424 amino acids
    Molecular mass:
    46252 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SBK1 Gene

Selected DME Specific Peptides for SBK1 Gene

Q52WX2:
  • EEFVRWQ
  • RELGKGTYGKVDLV
  • VKLADFG
  • GDLFDIIPPQVGLPE
  • HRDIKPEN
  • IPYTAPE
  • LTGNFPWE

Post-translational modifications for SBK1 Gene

  • Ubiquitination at Lys176
  • Modification sites at PhosphoSitePlus

Other Protein References for SBK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for SBK1 Gene

Gene Families for SBK1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for SBK1 Gene

Suggested Antigen Peptide Sequences for SBK1 Gene

GenScript: Design optimal peptide antigens:
  • SH3-binding kinase 1 (SBK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q52WX2

UniProtKB/Swiss-Prot:

SBK1_HUMAN :
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
genes like me logo Genes that share domains with SBK1: view

Function for SBK1 Gene

Molecular function for SBK1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in signal-transduction pathways related to the control of brain development.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.

Enzyme Numbers (IUBMB) for SBK1 Gene

Phenotypes From GWAS Catalog for SBK1 Gene

Gene Ontology (GO) - Molecular Function for SBK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IBA 21873635
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with SBK1: view
genes like me logo Genes that share phenotypes with SBK1: view

Animal Models for SBK1 Gene

MGI Knock Outs for SBK1:
  • Sbk1 Sbk1<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for SBK1 Gene

miRTarBase miRNAs that target SBK1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SBK1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SBK1 Gene

Localization for SBK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SBK1 Gene

Cytoplasm.

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 SBK1 gene
Compartment Confidence
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SBK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SBK1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SBK1 Gene

Pathways & Interactions for SBK1 Gene

PathCards logo

SuperPathways for SBK1 Gene

No Data Available

Interacting Proteins for SBK1 Gene

Gene Ontology (GO) - Biological Process for SBK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0016310 phosphorylation IEA --
GO:0018105 peptidyl-serine phosphorylation IBA 21873635
GO:0018107 peptidyl-threonine phosphorylation IBA 21873635
genes like me logo Genes that share ontologies with SBK1: view

No data available for Pathways by source and SIGNOR curated interactions for SBK1 Gene

Drugs & Compounds for SBK1 Gene

(2) Drugs for SBK1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for SBK1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with SBK1: view

Transcripts for SBK1 Gene

mRNA/cDNA for SBK1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SBK1

Alternative Splicing Database (ASD) splice patterns (SP) for SBK1 Gene

No ASD Table

Relevant External Links for SBK1 Gene

GeneLoc Exon Structure for
SBK1

Expression for SBK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SBK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SBK1 Gene

This gene is overexpressed in Brain - Cerebellum (x9.0) and Brain - Cerebellar Hemisphere (x6.6).

Protein differential expression in normal tissues from HIPED for SBK1 Gene

This gene is overexpressed in Cerebrospinal fluid (67.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SBK1 Gene



Protein tissue co-expression partners for SBK1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SBK1

SOURCE GeneReport for Unigene cluster for SBK1 Gene:

Hs.97837

Evidence on tissue expression from TISSUES for SBK1 Gene

  • Nervous system(2.5)
  • Eye(2)
genes like me logo Genes that share expression patterns with SBK1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SBK1 Gene

Orthologs for SBK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SBK1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SBK1 30 31
  • 99.11 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SBK1 30 31
  • 94.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SBK1 30 31
  • 88.8 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sbk1 30 17 31
  • 87.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sbk1 30
  • 87.37 (n)
Oppossum
(Monodelphis domestica)
Mammalia SBK1 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SBK1 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SBK1 30 31
  • 82.26 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SBK1 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100125030 30
  • 69.61 (n)
Str.12367 30
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-183d21.3 30
  • 65.74 (n)
SBK1 31
  • 58 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG11221 31
  • 23 (a)
ManyToMany
CG4945 31
  • 19 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea C01C4.3 31
  • 23 (a)
OneToMany
Species where no ortholog for SBK1 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 SBK1 Gene

ENSEMBL:
Gene Tree for SBK1 (if available)
TreeFam:
Gene Tree for SBK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SBK1: view image

Paralogs for SBK1 Gene

Paralogs for SBK1 Gene

(6) SIMAP similar genes for SBK1 Gene using alignment to 1 proteins:

  • SBK1_HUMAN
genes like me logo Genes that share paralogs with SBK1: view

Variants for SBK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SBK1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
VAR_041068 An ovarian mucinous carcinoma sample p.Lys92Glu
rs35448675 - p.Arg12His
rs56072383 - p.Asn250Thr
VAR_041070 - p.Ala261Ser

Additional dbSNP identifiers (rs#s) for SBK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SBK1 Gene

Variant ID Type Subtype PubMed ID
esv2758640 CNV gain+loss 17122850
nsv516054 CNV loss 19592680
nsv526174 CNV gain 19592680

Variation tolerance for SBK1 Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.53; 11.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SBK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SBK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SBK1 Gene

Disorders for SBK1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SBK1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
punctate epithelial keratoconjunctivitis
  • punctate keratitis
corneal ectasia
jackson-weiss syndrome
  • jws
- elite association - COSMIC cancer census association via MalaCards
Search SBK1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SBK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SBK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SBK1 Gene

Publications for SBK1 Gene

  1. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41
  2. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3
  4. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp JJ … Guthrie C (Nature structural & molecular biology 2015) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for SBK1 Gene

Sources for SBK1 Gene