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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
6
Cytoband
Chromosome location (bp)
148272304 - 148552044
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation 1. Regulates TRAF6 and MAP3K7 ubiquitination 2. Involved in the regulation of cell mobility 3,4,5. Regulates lipolysaccharide (LPS)-induced endothelial cell migration 6. Is involved in the regulation of skin pigmentation through the control of melanocyte migration in the epidermis 7....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
O94885 [Direct mapping] SAM and SH3 domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000209[protein polyubiquitination] GO:0001965[G-protein alpha-subunit binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0008022[protein C-terminus binding] GO:0010595[positive regulation of endothelial cell migration] GO:0010632[regulation of epithelial cell migration] GO:0019901[protein kinase binding] GO:0031435[mitogen-activated protein kinase kinase kinase binding] GO:0031666[positive regulation of lipopolysaccharide-mediated signaling pathway] GO:0032991[protein-containing complex] GO:0043507[positive regulation of JUN kinase activity] GO:0045766[positive regulation of angiogenesis] GO:0060090[molecular adaptor activity] GO:0110165[cellular anatomical entity] GO:1900044[regulation of protein K63-linked ubiquitination] GO:1900745[positive regulation of p38MAPK cascade] GO:1901224[positive regulation of NIK/NF-kappaB signaling] GO:1902498[regulation of protein autoubiquitination]
A0A1B0GWB9 [Direct mapping] SAM and SH3 domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
A0A1B0GVI0 [Direct mapping] SAM and SH3 domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
