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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 56
  • SH3-Binding Kinase 1 4
  • EC 2.7.11 56
  • SBK 3

External Ids for SBK1 Gene

Previous GeneCards Identifiers for SBK1 Gene

  • GC16P028160
  • 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. 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 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 , fRNAdb sequence ontologies and piRNA Summary for SBK1 Gene

Genomics for SBK1 Gene

GeneHancer (GH) Regulatory Elements for SBK1 Gene

Promoters and enhancers for SBK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J028292 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 600.3 +33.9 33898 4.8 HDGF ZNF148 ZNF121 ZSCAN21 MYC ZBTB7A POLR2A SP7 PPARG PRDM1 ENSG00000246465 SBK1 SULT1A2 NPIPB7 EIF3C CDC37P1 GC16P028319 ENSG00000283662
GH16J028258 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 600.7 +1.8 1762 4.7 ZSCAN4 ZNF24 POLR2A ZFHX2 GLI4 ZNF16 ZMYM3 EGR2 ENSG00000283662 SBK1 EIF3CL EIF3C GTF3C1 XPO6 ENSG00000246465
GH16J028308 Promoter/Enhancer 1.2 EPDnew ENCODE 600.2 +52.2 52213 5.8 ZNF121 SP1 EGR1 RXRA ATF1 FOXA2 MNT JUND CREM HNF4A SBK1 EIF3C NFATC2IP CDC37P1 GC16P028319 ENSG00000246465
GH16J028191 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -64.3 -64252 6.9 ZNF687 ZSCAN21 SP7 PRDM1 ZBED1 IKZF1 POLR2A ZNF600 PRDM10 RELA GC16M028181 SBK1 XPO6 ENSG00000246465 SGF29 APOBR RNY1P10
GH16J028148 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -108.9 -108902 2.4 CEBPG ZNF600 PRDM10 CEBPA ATF7 ZNF629 CEBPB ATF2 CREB1 HLF XPO6 APOBR ENSG00000200652 RNY1P10 GSG1L SBK1 ENSG00000246465 SULT1A1 GC16P028181 TPRKBP2
- 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 UCSC Golden Path with GeneCards custom track

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
chr16:28,258,703-28,323,849
(GRCh38/hg38)
Size:
65,147 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 isoforms=176
  • 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:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IBA 21873635
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase 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

Clone Products

  • Applied Biological Materials (abm): Clones for SBK1 - Now 50% OFF >
  • * SBK1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SBK1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 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, Full agonist, Antagonist, 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
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 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) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for SBK1 Gene

SH3-binding domain kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for SBK1 - Now 50% OFF >
  • * SBK1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SBK1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

No ASD Table

Relevant External Links for SBK1 Gene

GeneLoc Exon Structure for
SBK1
ECgene alternative splicing isoforms for
SBK1

Expression for SBK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of SBK1 Gene:

SBK1

SOURCE GeneReport for Unigene cluster for SBK1 Gene:

Hs.97837

Evidence on tissue expression from TISSUES for SBK1 Gene

  • Eye(2.2)
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 35 34
  • 99.11 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SBK1 35 34
  • 94.03 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SBK1 35 34
  • 88.8 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sbk1 17 35 34
  • 87.61 (n)
rat
(Rattus norvegicus)
Mammalia Sbk1 34
  • 87.37 (n)
oppossum
(Monodelphis domestica)
Mammalia SBK1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SBK1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves SBK1 35 34
  • 82.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SBK1 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100125030 34
  • 69.61 (n)
Str.12367 34
zebrafish
(Danio rerio)
Actinopterygii si:ch211-183d21.3 34
  • 65.74 (n)
SBK1 35
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11221 35
  • 23 (a)
ManyToMany
CG4945 35
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C01C4.3 35
  • 23 (a)
OneToMany
Species where no ortholog for SBK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 from dbSNP and Humsavar for SBK1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
VAR_041068 An ovarian mucinous carcinoma sample p.Lys92Glu
rs1000013055 -- 28,297,609(+) A/T intron_variant
rs1000101226 -- 28,310,132(+) C/T intron_variant
rs1000181170 -- 28,270,913(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000187056 -- 28,302,826(+) C/G/T intron_variant

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

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

Disorder Aliases PubMed IDs
punctate epithelial keratoconjunctivitis
  • punctate keratitis
- 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
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 45 58
  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 58
  3. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp JJ … Guthrie C (Nature structural & molecular biology 2015) 3 58
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58
  5. Human SBK1 is dysregulated in multiple cancers and promotes survival of ovary cancer SK-OV-3 cells. (PMID: 21104019) Wang P … Ma D (Molecular biology reports 2011) 3 58

Products for SBK1 Gene

Sources for SBK1 Gene

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