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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
External Ids for SH3KBP1 Gene
- HGNC: 13867
- Entrez Gene: 30011
- Ensembl: ENSG00000147010
- OMIM: 300374
- UniProtKB: Q96B97
Previous GeneCards Identifiers for SH3KBP1 Gene
- GC0XM019030
- GC0XM018219
- GC0XM018751
- GC0XM018914
- GC0XM019313
- GC0XM019462
- GC0XM017300
Summaries 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 Adrenal Cortical Adenocarcinoma. Among its related pathways are RET signaling and Lipoprotein metabolism. 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).
Additional gene information for SH3KBP1 Gene
- HGNC(13867)
- Entrez Gene(30011)
- Ensembl(ENSG00000147010)
- OMIM(300374)
- UniProtKB(Q96B97)
- Open Targets Platform(ENSG00000147010)
- Search for SH3KBP1 at DataMed
- Search for SH3KBP1 at HumanCyc
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
- 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
Genomic Locations for SH3KBP1 Gene
- chrX:19,533,965-19,887,600
- (GRCh38/hg38)
- Size:
- 353,636 bases
- Orientation:
- Minus strand
- chrX:19,552,083-19,905,744
- (GRCh37/hg19)
- Size:
- 353,662 bases
- Orientation:
- Minus strand
Genomic View for SH3KBP1 Gene
Genes around SH3KBP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp22.12 by HGNC
- Xp22.12 by Entrez Gene
- Xp22.12 by Ensembl
SH3KBP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
Other Protein References for SH3KBP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_011543800.1
- XP_011543801.1
- XP_011543802.1
- XP_011543804.1
- XP_011543805.1
- XP_016884949.1
- XP_016884950.1
- XP_016884953.1
- XP_016884954.1
- XP_016884956.1
- XP_016884957.1
- XP_016884958.1
- NP_001019837.1
- NP_001171889.1
- NP_001340819.1
- NP_001340820.1
- NP_001340821.1
- NP_001340822.1
- NP_001340823.1
- NP_001340824.1
- NP_001340826.1
- NP_114098.1
Antibody Products
- G Biosciences Immunotag™ CIN85 Antibody
-
Custom Antibody ServicesOriGene Antibodies for SH3KBP1
- Novus Biologicals Antibodies for SH3KBP1
-
Abcam antibodies for SH3KBP1
- Invitrogen Antibodies for SH3KBP1 (AFLGC-Sh3kbp1)
- antibodies-online: Show 16 available SH3KBP1 Antibodies ranked by validation data
- Compare Top SH3KBP1 Antibodies
-
Recommended
- 26 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 17 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 18 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
-
Boster Bio Antibodies for SH3KBP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SH3KBP1
- Sino Biological Antibodies for SH3KBP1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for SH3KBP1
- Origene Custom Protein Services for SH3KBP1
-
Signalway Proteins for SH3KBP1
-
ProSci Proteins for SH3KBP1
-
Abcam proteins for SH3KBP1
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
- InterPro:
- ProtoNet:
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)
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).
| 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 | -- |
Phenotypes for SH3KBP1 Gene
- MGI mutant phenotypes for SH3KBP1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SH3KBP1:
Animal Models for SH3KBP1 Gene
- MGI Knock Outs for SH3KBP1:
-
- Sh3kbp1 Sh3kbp1<tm1Ivdi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SH3KBP1 - Select products 50% OFF >
- * SH3KBP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SH3KBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SH3KBP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SH3KBP1
miRNA for SH3KBP1 Gene
- miRTarBase miRNAs that target SH3KBP1
-
- hsa-miR-1914-5p (MIRT035790)
- hsa-miR-5692a (MIRT326934)
- hsa-miR-218-5p (MIRT439641)
- mmu-miR-466m-3p (MIRT604675)
- mmu-miR-466o-3p (MIRT604676)
- hsa-miR-1305 (MIRT613676)
- hsa-miR-607 (MIRT613677)
- hsa-miR-4775 (MIRT613678)
- hsa-miR-590-3p (MIRT613679)
- hsa-miR-548ah-5p (MIRT613680)
- hsa-miR-3609 (MIRT613681)
- hsa-miR-548t-5p (MIRT613682)
- hsa-miR-548az-5p (MIRT613683)
- hsa-miR-335-3p (MIRT616483)
- hsa-miR-19b-3p (MIRT726591)
- hsa-miR-19a-3p (MIRT726592)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SH3KBP1
- Browse OriGene Inhibitory RNA Products For SH3KBP1
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Clone Products
- Applied Biological Materials (abm): Clones for SH3KBP1 - Select products 50% OFF >
- * SH3KBP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG226320
- MG226321
- MG226324
- MR226320
- MR226320L3
- MR226320L4
- MR226321
- MR226321L3
- MR226321L4
- MR226324
- MR226324L3
- MR226324L4
- MR227894
- MR227895
- RC202186
- RC202186L1
- RC202186L2
- RC202186L3
- RC202186L4
- RC215701
- RC215701L1
- RC215701L2
- RC215701L3
- RC215701L4
- RC230063
- RC230063L1
- RC230063L2
- RC230063L3
- RC230063L4
- RG202186
- RG215701
- RG230063
- RR214897
- RR214897L3
- RR214897L4
- MR226320L3V
- MR226320L4V
- MR226321L3V
- MR226321L4V
- MR226324L3V
- MR226324L4V
- RC202186L1V
- RC202186L2V
- RC202186L3V
- RC202186L4V
- RC215701L1V
- RC215701L2V
- RC215701L3V
- RC215701L4V
- RC230063L1V
- RC230063L2V
- RC230063L3V
- RC230063L4V
- RR214897L3V
- RR214897L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SH3KBP1
- Addgene plasmids for SH3KBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SH3KBP1
Cell Line Products
-
Horizon Cell Lines for SH3KBP1
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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}.
| 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 |
- Cytosol (3)
| 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 | -- |
Pathways & Interactions for SH3KBP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Listeria monocytogenes entry into host cells | ||
| 2 | Lipoprotein metabolism | ||
| 3 | Clathrin-mediated endocytosis | ||
| 4 | HIV Life Cycle |
.45
|
|
| 5 | Vesicle-mediated transport | ||
Pathways by source for SH3KBP1 Gene
3 BioSystems pathways for SH3KBP1 Gene
1 KEGG pathway for SH3KBP1 Gene
3 Cell Signaling Technology pathways for SH3KBP1 Gene
Interacting Proteins for SH3KBP1 Gene
Selected Interacting proteins:
Q96B97-SH3K1_HUMAN
ENSP00000380921
for SH3KBP1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SH3KBP1
| 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 |
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 :
-
- ENST00000379697 1944 nts (view in UCSC)
- ENST00000379698 2678 nts (view in UCSC)
- ENST00000379716 3819 nts (view in UCSC)
- ENST00000379726 1941 nts (view in UCSC)
- ENST00000397821 4728 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SH3KBP1 - Select products 50% OFF >
- * SH3KBP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SH3KBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SH3KBP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SH3KBP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SH3KBP1
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Clone Products
- Applied Biological Materials (abm): Clones for SH3KBP1 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG226320
- MG226321
- MG226324
- MR226320
- MR226320L3
- MR226320L4
- MR226321
- MR226321L3
- MR226321L4
- MR226324
- MR226324L3
- MR226324L4
- MR227894
- MR227895
- RC202186
- RC202186L1
- RC202186L2
- RC202186L3
- RC202186L4
- RC215701
- RC215701L1
- RC215701L2
- RC215701L3
- RC215701L4
- RC230063
- RC230063L1
- RC230063L2
- RC230063L3
- RC230063L4
- RG202186
- RG215701
- RG230063
- RR214897
- RR214897L3
- RR214897L4
- MR226320L3V
- MR226320L4V
- MR226321L3V
- MR226321L4V
- MR226324L3V
- MR226324L4V
- RC202186L1V
- RC202186L2V
- RC202186L3V
- RC202186L4V
- RC215701L1V
- RC215701L2V
- RC215701L3V
- RC215701L4V
- RC230063L1V
- RC230063L2V
- RC230063L3V
- RC230063L4V
- RR214897L3V
- RR214897L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SH3KBP1
- Addgene plasmids for SH3KBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SH3KBP1
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Hair (Integumentary System)
- Bulge Stem Cells Bulge
- Bone (Muscoskeletal System)
- Blood (Hematopoietic System)
-
Lymph (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for SH3KBP1 Gene
This gene is overexpressed in Whole Blood (x6.4).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SH3KBP1
SOURCE GeneReport for Unigene cluster for SH3KBP1 Gene:
Hs.726365mRNA 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(4.4)
- Adrenal gland(4.3)
- Nervous system(4.1)
- Lung(2.8)
- Spleen(2.7)
- Lymph node(2.7)
- Skin(2.5)
- Kidney(2.4)
- Intestine(2.3)
- Bone marrow(2.1)
- Muscle(2)
Primer Products
-
OriGene qPCR primer pairs for SH3KBP1
-
OriGene qPCR primer pairs and template standards for SH3KBP1
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SH3KBP1 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | SH3KBP1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SH3KBP1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sh3kbp1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sh3kbp1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SH3KBP1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SH3KBP1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SH3KBP1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sh3kbp1 30 |
|
||
| Str.9067 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | sh3kbp1 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | cindr 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | Y44E3A.4 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
(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
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 |
|---|---|---|---|---|---|
| 691378 | Likely Pathogenic: Pyloric stenosis; Esophageal atresia | 19,645,401(-) | C/G | MISSENSE_VARIANT | |
| 769173 | Benign: not provided | 19,836,245(-) | G/A | SYNONYMOUS_VARIANT | |
| 782176 | Benign: not provided | 19,545,924(-) | G/C | MISSENSE_VARIANT,INTRON_VARIANT | |
| rs483352756 | Uncertain Significance: not provided | 19,588,683(-) | T/C | MISSENSE_VARIANT | |
| rs1310665369 | - | p.Pro382Leu |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3KBP1 Gene
Disorders for SH3KBP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency 61 |
|
|
| adrenal cortical adenocarcinoma |
|
|
| waardenburg syndrome, type 4a |
|
|
| oculoauricular syndrome |
|
|
| breast adenocarcinoma |
|
|
Search SH3KBP1 in MalaCards
View complete list of genes associated with diseases
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 mutations affecting the gene represented in this entry.
Additional Disease Information for SH3KBP1
No data available for Genatlas for SH3KBP1 Gene
Publications for SH3KBP1 Gene
- 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
- Cbl promotes clustering of endocytic adaptor proteins. (PMID: 16228008) Jozic D … Bravo J (Nature structural & molecular biology 2005) 3 4 23
- 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
- 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
- CIN85 associates with multiple effectors controlling intracellular trafficking of epidermal growth factor receptors. (PMID: 15090612) Kowanetz K … Dikic I (Molecular biology of the cell 2004) 3 4 23
ExternalLinks
Products for SH3KBP1 Gene
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- Boster Bio Antibodies for SH3KBP1
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- Signalway Proteins for SH3KBP1
Sources for SH3KBP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
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- (115) NCBI Bookshelf
- (116) ClinVar
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- (119) UDN
- (120) VISTA
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- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
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- (128) SNPedia
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- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB