This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent en... See more...

Aliases for SH3KBP1 Gene

Aliases for SH3KBP1 Gene

  • SH3 Domain Containing Kinase Binding Protein 1 2 3 5
  • CIN85 2 3 4
  • SH3 Domain-Containing Kinase-Binding Protein 1 3 4
  • Human Src Family Kinase-Binding Protein 1 3 4
  • Cbl-Interacting Protein Of 85 KDa 3 4
  • CD2-Binding Protein 3 3 4
  • CD2BP3 3 4
  • HSB-1 3 4
  • Src-Related Kinase Binding Protein-1 3
  • SH3-Domain Kinase Binding Protein 1 3
  • Src Family Kinase-Binding Protein 1 3
  • Migration-Inducing Gene 18 3
  • C-Cbl-Interacting Protein 3
  • SH3KBP1 5
  • AGMX2 3
  • GIG10 3
  • IMD61 3
  • MIG18 3
  • HSB1 3

External Ids for SH3KBP1 Gene

Previous GeneCards Identifiers for SH3KBP1 Gene

  • GC0XM019030
  • GC0XM018219
  • GC0XM018751
  • GC0XM018914
  • GC0XM019313
  • GC0XM019462
  • GC0XM017300

Summaries for SH3KBP1 Gene

Entrez Gene Summary for SH3KBP1 Gene

  • This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]

GeneCards Summary for SH3KBP1 Gene

SH3KBP1 (SH3 Domain Containing Kinase Binding Protein 1) is a Protein Coding gene. Diseases associated with SH3KBP1 include Immunodeficiency 61 and Agammaglobulinemia, X-Linked. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include SH3 domain binding. An important paralog of this gene is CD2AP.

UniProtKB/Swiss-Prot Summary for SH3KBP1 Gene

  • Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and MET/hepatocyte growth factor receptor, through an association with CBL and endophilins. The association with CBL, and thus the receptor internalization, may be inhibited by an interaction with PDCD6IP and/or SPRY2. Involved in regulation of ligand-dependent endocytosis of the IgE receptor. Attenuates phosphatidylinositol 3-kinase activity by interaction with its regulatory subunit (By similarity). May be involved in regulation of cell adhesion; promotes the interaction between TTK2B and PDCD6IP. May be involved in the regulation of cellular stress response via the MAPK pathways through its interaction with MAP3K4. Is involved in modulation of tumor necrosis factor mediated apoptosis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Has an essential role in the stimulation of B cell activation (PubMed:29636373).

Gene Wiki entry for SH3KBP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SH3KBP1 Gene

Genomics for SH3KBP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SH3KBP1 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
GH0XJ019885 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.4 384 4 CHD2 ZBTB10 CEBPA ZNF217 CTCF THAP11 CEBPB FOXA2 ZNF511 VEZF1 SH3KBP1 BCLAF3 RF00017-8205 RF00017-8202 MAP3K15
GH0XJ019796 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 267.2 +88.6 88648 5.6 ZIC2 ZNF687 FOS YY1 TCF12 POLR2A SH3KBP1 RPS6KA3 piR-33804-172 piR-41525-710 RF00017-8202 MAP3K15
GH0XJ019709 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 25 +174.6 174609 11.2 CEBPB MAX EP300 GABPA STAT3 TBP FOSL1 JUND BHLHE40 ATF1 SH3KBP1 BCLAF3 RF00017-8204 piR-41525-710 MAP3K15 RF00017-8202
GH0XJ019739 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 22.5 +140.8 140799 16 BCL11A CEBPA CTCF REST TRIM22 SAP130 RXRA EBF1 SMC3 RAD21 SH3KBP1 BCLAF3 piR-41525-710 RF00017-8204 MAP3K15 RF00017-8202
GH0XJ019723 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 22.3 +161.6 161599 12 CEBPA MAFF GABPA ZNF316 FOSL1 SPI1 POLR2A MAFK MYC MAX SH3KBP1 BCLAF3 RF00017-8204 piR-41525-710 MAP3K15 RF00017-8202
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SH3KBP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SH3KBP1

Top Transcription factor binding sites by QIAGEN in the SH3KBP1 gene promoter:
  • Bach1
  • COMP1
  • E47
  • GCNF
  • GCNF-1
  • GCNF-2
  • Hand1
  • IRF-2
  • Nkx2-5
  • RelA

Genomic Locations for SH3KBP1 Gene

Latest Assembly
chrX:19,533,977-19,887,600
(GRCh38/hg38)
Size:
353,624 bases
Orientation:
Minus strand

Previous Assembly
chrX:19,552,095-19,905,718
(GRCh37/hg19 by Entrez Gene)
Size:
353,624 bases
Orientation:
Minus strand

chrX:19,552,093-19,905,719
(GRCh37/hg19 by Ensembl)
Size:
353,627 bases
Orientation:
Minus strand

Genomic View for SH3KBP1 Gene

Genes around SH3KBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3KBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH3KBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3KBP1 Gene

Proteins for SH3KBP1 Gene

  • Protein details for SH3KBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96B97-SH3K1_HUMAN
    Recommended name:
    SH3 domain-containing kinase-binding protein 1
    Protein Accession:
    Q96B97
    Secondary Accessions:
    • B7Z1D5
    • Q5JPT4
    • Q5JPT5
    • Q8IWX6
    • Q8IX98
    • Q96RN4
    • Q9NYR0

    Protein attributes for SH3KBP1 Gene

    Size:
    665 amino acids
    Molecular mass:
    73126 Da
    Quaternary structure:
    • Can self-associate and form homotetramers. Interacts with CD2, F-actin capping protein, PIK3R3, GRB2, EGFR, MET, BLNK, MAP3K4, PDCD6IP, SPRY2, ARHGAP17, ARHGAP27, MAGI2, CRK, BCAR1, SOS1, ASAP1, ARAP3, HIP1R, SYNJ2, INPP5D and STAP1. Interacts with CBL and CBLB, but does not interact with CBLC. Two molecules of SH3KBP1 seem to bind through their respective SH3 1 domain to one molecule of CBLB. The interaction with CBL or CBLB and EGFR is increased upon EGF stimulation. The interaction with CBL is attenuated by PDCD6IP. Interacts through its proline-rich region with the SH3 domain of endophilins SH3GL1, SH3GL2 and SH3GL3. The SH3KBP1-endophilin complex seems to associate with a complex containing the phosphorylated receptor (EGFR or MET) and phosphorylated CBL. Probably associates with ASAP1 and phosphorylated EGFR. Probably part of a complex consisting of at least SH3KBP1, ASAP1 and ARAP3. Interacts with focal adhesion kinases PTK2/FAK1 AND PTK2B/PYK2, probably as a dimer. Interacts with DAB2 and probably associates with chathrin through its interaction with DAB2. Part of a complex consisting of SH3KBP1, DAB2, and clathrin heavy chain. DAB2 and clathrin dissociate from SH3KBP1 following growth factor treatment, enabling interaction with CBL. Interacts with DDN and probably associates with MAGI2 through its interaction with DDN. Interacts with the SH3 domains of SRC tyrosine-protein kinases SRC, LCK, LYN, FGR, FYN and HCK. Interacts with TRADD, BIRC2, TRAF1, TRAF2 and TNFR1, and the association with a TNFR1-associated complex upon stimulation with TNF-alpha seems to be mediated by SRC. Interacts (via SH3 domains) with SHKBP1 (via PXXXPR motifs) (By similarity). Interaction with CBL is abolished in the presence of SHKBP1 (By similarity). Interacts (via SH3 domains) with ZFP36 (via extreme C-terminal region) (PubMed:20221403). Interacts with MAP3K4; this interaction enhances the association with ZFP36 (PubMed:20221403).
    SequenceCaution:
    • Sequence=AAH50663.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 1]: Interacts with CBL.
    • [Isoform 2]: Interacts with CD2 cytoplasmic tail and does not interact with F-actin.

    Three dimensional structures from OCA and Proteopedia for SH3KBP1 Gene

    Alternative splice isoforms for SH3KBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3KBP1 Gene

Post-translational modifications for SH3KBP1 Gene

  • Monoubiquitinated by CBL and CBLB after EGF stimulation; probably on its C-terminus.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SH3KBP1 Gene

Domains & Families for SH3KBP1 Gene

Gene Families for SH3KBP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SH3KBP1 Gene

Suggested Antigen Peptide Sequences for SH3KBP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59425, highly similar to SH3-domain kinase-binding protein 1 (B7Z6E8_HUMAN)
  • SH3-domain kinase binding protein 1 (Q5JPT2_HUMAN)
  • cDNA FLJ54623, highly similar to SH3-domain kinase-binding protein 1 (Q5JPT5_HUMAN)
  • cDNA, FLJ93821, Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), mRNA (Q5JPT6_HUMAN)
  • Human Src family kinase-binding protein 1 (SH3K1_HUMAN)
genes like me logo Genes that share domains with SH3KBP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SH3KBP1 Gene

Function for SH3KBP1 Gene

Molecular function for SH3KBP1 Gene

UniProtKB/Swiss-Prot Function:
Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and MET/hepatocyte growth factor receptor, through an association with CBL and endophilins. The association with CBL, and thus the receptor internalization, may be inhibited by an interaction with PDCD6IP and/or SPRY2. Involved in regulation of ligand-dependent endocytosis of the IgE receptor. Attenuates phosphatidylinositol 3-kinase activity by interaction with its regulatory subunit (By similarity). May be involved in regulation of cell adhesion; promotes the interaction between TTK2B and PDCD6IP. May be involved in the regulation of cellular stress response via the MAPK pathways through its interaction with MAP3K4. Is involved in modulation of tumor necrosis factor mediated apoptosis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Has an essential role in the stimulation of B cell activation (PubMed:29636373).

Phenotypes From GWAS Catalog for SH3KBP1 Gene

Gene Ontology (GO) - Molecular Function for SH3KBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 10679202
GO:0016301 kinase activity IEA --
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with SH3KBP1: view
genes like me logo Genes that share phenotypes with SH3KBP1: view

Human Phenotype Ontology for SH3KBP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SH3KBP1 Gene

MGI Knock Outs for SH3KBP1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH3KBP1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SH3KBP1 Gene

Localization for SH3KBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH3KBP1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasmic vesicle membrane. Peripheral membrane protein. Cell junction, synapse, synaptosome. Cell junction, focal adhesion. Note=Localized in endocytic vesicles containing clustered receptors. Colocalizes with ASAP1 in vesicular structures. Colocalized with actin microfilaments and focal adhesions (By similarity). Colocalized with MAGI2 in synaptosomes. Translocation to EGFR containing vesicles upon EGF stimulation is inhibited in the presence of SH3KBP1 (By similarity). Colocalizes with ZFP36 in the cytoplasm (PubMed:20221403). {ECO:0000250 UniProtKB:Q8R550, ECO:0000269 PubMed:20221403}.

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 SH3KBP1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 3
extracellular 2
endosome 2
lysosome 2
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SH3KBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 20221403
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction IEA --
genes like me logo Genes that share ontologies with SH3KBP1: view

Pathways & Interactions for SH3KBP1 Gene

genes like me logo Genes that share pathways with SH3KBP1: view

SIGNOR curated interactions for SH3KBP1 Gene

Activates:

Gene Ontology (GO) - Biological Process for SH3KBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0006915 apoptotic process IEA --
GO:0007010 cytoskeleton organization IMP 21834987
GO:0007015 actin filament organization IEA --
GO:0007267 cell-cell signaling NAS 10679202
genes like me logo Genes that share ontologies with SH3KBP1: view

Drugs & Compounds for SH3KBP1 Gene

(1) Drugs for SH3KBP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SH3KBP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SH3KBP1: view

Transcripts for SH3KBP1 Gene

mRNA/cDNA for SH3KBP1 Gene

10 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
9 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 SH3KBP1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SH3KBP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21
SP1: - - - -
SP2: - - -
SP3:
SP4:
SP5:
SP6: -

Relevant External Links for SH3KBP1 Gene

GeneLoc Exon Structure for
SH3KBP1

Expression for SH3KBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SH3KBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SH3KBP1 Gene

This gene is overexpressed in Whole Blood (x6.4).

Protein differential expression in normal tissues from HIPED for SH3KBP1 Gene

This gene is overexpressed in Lymph node (20.9), Peripheral blood mononuclear cells (16.8), and Tlymphocyte (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SH3KBP1 Gene



Protein tissue co-expression partners for SH3KBP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SH3KBP1

SOURCE GeneReport for Unigene cluster for SH3KBP1 Gene:

Hs.726365

mRNA Expression by UniProt/SwissProt for SH3KBP1 Gene:

Q96B97-SH3K1_HUMAN
Tissue specificity: Ubiquitously expressed. Also expressed in some cancer cell lines.

Evidence on tissue expression from TISSUES for SH3KBP1 Gene

  • Blood(4.5)
  • Liver(4.3)
  • Adrenal gland(4.3)
  • Nervous system(4)
  • Lung(2.7)
  • Lymph node(2.6)
  • Spleen(2.6)
  • Skin(2.3)
  • Kidney(2.2)
  • Intestine(2.2)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with SH3KBP1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SH3KBP1 Gene

Orthologs for SH3KBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SH3KBP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SH3KBP1 30
  • 93.6 (n)
Dog
(Canis familiaris)
Mammalia SH3KBP1 30 31
  • 92.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SH3KBP1 30 31
  • 91.28 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sh3kbp1 30 17 31
  • 90.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sh3kbp1 30
  • 90.38 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 86 (a)
OneToMany
-- 31
  • 85 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia SH3KBP1 31
  • 40 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SH3KBP1 30 31
  • 76.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SH3KBP1 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sh3kbp1 30
  • 68.2 (n)
Str.9067 30
Zebrafish
(Danio rerio)
Actinopterygii sh3kbp1 30 31
  • 62.3 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta cindr 31
  • 15 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y44E3A.4 31
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for SH3KBP1 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 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 SH3KBP1 Gene

ENSEMBL:
Gene Tree for SH3KBP1 (if available)
TreeFam:
Gene Tree for SH3KBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SH3KBP1: view image

Paralogs for SH3KBP1 Gene

Paralogs for SH3KBP1 Gene

(6) SIMAP similar genes for SH3KBP1 Gene using alignment to 7 proteins:

  • SH3K1_HUMAN
  • B7Z6E8_HUMAN
  • L0R6P6_HUMAN
  • Q5JPT1_HUMAN
  • Q5JPT2_HUMAN
  • Q5JPT3_HUMAN
  • Q5VSN0_HUMAN
genes like me logo Genes that share paralogs with SH3KBP1: view

Variants for SH3KBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SH3KBP1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs483352756 Uncertain Significance: not provided 19,588,683(-) T/C
NM_031892.3(SH3KBP1):c.1258A>G (p.Arg420Gly)
MISSENSE
rs61761898 Benign: not provided 19,545,924(-) G/C
NM_031892.3(SH3KBP1):c.1621C>G (p.Gln541Glu)
MISSENSE_VARIANT,INTRON
rs7882276 Benign: not provided 19,836,245(-) G/A
NM_031892.3(SH3KBP1):c.42C>T (p.His14=)
SYNONYMOUS
rs1310665369 - p.Pro382Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SH3KBP1 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 SH3KBP1 Gene

Variant ID Type Subtype PubMed ID
dgv2232e212 CNV loss 25503493
nsv477053 CNV novel sequence insertion 20440878
nsv6824 CNV deletion 18451855
nsv6825 CNV insertion 18451855
nsv6826 CNV insertion 18451855

Variation tolerance for SH3KBP1 Gene

Residual Variation Intolerance Score: 9.91% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SH3KBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH3KBP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3KBP1 Gene

Disorders for SH3KBP1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SH3KBP1 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
immunodeficiency 61
  • imd61
isolated agammaglobulinemia
  • isolated hypogammaglobulinemia
agammaglobulinemia, x-linked
  • xla
adrenal cortical adenocarcinoma
  • adrenal cortex adenocarcinoma
waardenburg syndrome, type 4a
  • ws4a
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SH3K1_HUMAN
  • Immunodeficiency 61 (IMD61) [MIM:300310]: An X-linked recessive primary immunologic disorder characterized by recurrent infections due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production. Disease severity is variable and onset is in early childhood. {ECO:0000269 PubMed:29636373}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for SH3KBP1

genes like me logo Genes that share disorders with SH3KBP1: view

No data available for Genatlas for SH3KBP1 Gene

Publications for SH3KBP1 Gene

  1. Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency. (PMID: 29636373) Keller B … Wienands J (The Journal of experimental medicine 2018) 3 4 74
  2. Phosphorylation of human tristetraprolin in response to its interaction with the Cbl interacting protein CIN85. (PMID: 20221403) Kedar VP … Blackshear PJ (PloS one 2010) 3 4 23
  3. Cbl promotes clustering of endocytic adaptor proteins. (PMID: 16228008) Jozic D … Bravo J (Nature structural & molecular biology 2005) 3 4 23
  4. CIN85 regulates the ability of MEKK4 to activate the p38 MAP kinase pathway. (PMID: 16256071) Aissouni Y … Soubeyran P (Biochemical and biophysical research communications 2005) 3 4 23
  5. CIN85 associates with TNF receptor 1 via Src and modulates TNF-alpha-induced apoptosis. (PMID: 15707590) Narita T … Taniyama T (Experimental cell research 2005) 3 4 23

Products for SH3KBP1 Gene

Sources for SH3KBP1 Gene