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Gene Gene information from NCBI Gene database.
Entrez ID 6464
Gene name SHC adaptor protein 1
Gene symbol SHC1
Synonyms (NCBI Gene)
SHCSHCA
Chromosome 1
Chromosome location 1q21.3
Summary This gene encodes three main isoforms that differ in activities and subcellular location. While all three are adapter proteins in signal transduction pathways, the longest (p66Shc) may be involved in regulating life span and the effects of reactive oxygen
miRNA miRNA information provided by mirtarbase database.
536 Show/Hide all (536)
miRTarBase ID miRNA Experiments Reference
MIRT016646 hsa-miR-429 Reporter assay 20005803
MIRT020350 hsa-miR-200a-3p Reporter assay 20005803
MIRT021079 hsa-miR-200c-3p Reporter assay 20005803
MIRT021650 hsa-miR-141-3p Reporter assay 20005803
MIRT023035 hsa-miR-124-3p Microarray 18668037
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SIRT1 Unknown 21778425
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51 Show/Hide all (51)
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001525 Process Angiogenesis IEA
GO:0001784 Function Phosphotyrosine residue binding IPI 20624904
GO:0005068 Function Transmembrane receptor protein tyrosine kinase adaptor activity IEA
GO:0005068 Function Transmembrane receptor protein tyrosine kinase adaptor activity TAS 1623525, 14676841
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600560 10840 ENSG00000160691
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29353
Protein name SHC-transforming protein 1 (SHC-transforming protein 3) (SHC-transforming protein A) (Src homology 2 domain-containing-transforming protein C1) (SH2 domain protein C1)
Protein function Signaling adapter that couples activated growth factor receptors to signaling pathways. Participates in a signaling cascade initiated by activated KIT and KITLG/SCF. Isoform p46Shc and isoform p52Shc, once phosphorylated, couple activated recept
PDB 1MIL , 1N3H , 1OY2 , 1QG1 , 1SHC , 1TCE , 2L1C , 4JMH , 4XWX , 5CZI , 6DM4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00017 SH2 488 → 559 SH2 domain Domain
PF00640 PID 162 → 318 Phosphotyrosine interaction domain (PTB/PID) Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in neural stem cells but absent in mature neurons.
Sequence
MDLLPPKPKYNPLRNESLSSLEEGASGSTPPEELPSPSASSLGPILPPLPGDDSPTTLCS
FFPRMSNLRLANPAGGRPGSKGEPGRAADDGEGIVGAAMPDSGPLPLLQDMNKLSGGGGR
RTRVEGGQLGGEEWTRHGSFVNKPTRGWLHPNDKVMGPGVSYLVRYMGCVEVLQSMRALD
FNTRTQVTREAISLVCEAVPGAKGATRRRKPCSRPLSSILGRSNLKFAGMPITLTVSTSS
LNLMAADCKQIIANHHMQSISFASGGDPDTAEYVAYVAKDPVNQRACHILECPEGLAQDV
ISTIGQAFELRFKQYLRN
PPKLVTPHDRMAGFDGSAWDEEEEEPPDHQYYNDFPGKEPPL
GGVVDMRLREGAAPGAARPTAPNAQTPSHLGATLPVGQPVGGDPEVRKQMPPPPPCPGRE
LFDDPSYVNVQNLDKARQAVGGAGPPNPAINGSAPRDLFDMKPFEDALRVPPPPQSVSMA
EQLRGEPWFHGKLSRREAEALLQLNGDFLVRESTTTPGQYVLTGLQSGQPKHLLLVDPEG
VVRTKDHRFESVSHLISYH
MDNHLPIISAGSELCLQQPVERKL
Sequence length 583
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
EGFR tyrosine kinase inhibitor resistance Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
Endocrine resistance SHC1 events in ERBB2 signaling
ErbB signaling pathway SHC1 events in ERBB4 signaling
Ras signaling pathway Signalling to RAS
Chemokine signaling pathway SHC1 events in EGFR signaling
Phospholipase D signaling pathway Tie2 Signaling
Focal adhesion DAP12 signaling
Natural killer cell mediated cytotoxicity SHC-related events triggered by IGF1R
Neurotrophin signaling pathway Role of LAT2/NTAL/LAB on calcium mobilization
Insulin signaling pathway FCERI mediated MAPK activation
Estrogen signaling pathway FCERI mediated Ca+2 mobilization
Prolactin signaling pathway Integrin signaling
Relaxin signaling pathway XBP1(S) activates chaperone genes
Growth hormone synthesis, secretion and action Interleukin-3, Interleukin-5 and GM-CSF signaling
Alcoholism Constitutive Signaling by EGFRvIII
Bacterial invasion of epithelial cells SHC-mediated cascade:FGFR1
MicroRNAs in cancer SHC-mediated cascade:FGFR2
Glioma SHC-mediated cascade:FGFR3
Chronic myeloid leukemia SHC-mediated cascade:FGFR4
Breast cancer RAF/MAP kinase cascade
Hepatocellular carcinoma Signal attenuation
Gastric cancer Insulin receptor signalling cascade
  MET activates RAS signaling
  RET signaling
  Interleukin-15 signaling
  Extra-nuclear estrogen signaling
  Interleukin-2 signaling
  Erythropoietin activates RAS
  Interleukin receptor SHC signaling
  Constitutive Signaling by Overexpressed ERBB2
  Signaling by ERBB2 KD Mutants
  Signaling by ERBB2 ECD mutants
  Signaling by ERBB2 TMD/JMD mutants
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (7)
Phenotype Name Clinical Significance Source Reference Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 1 — CTD, Disgenet
CTD, Disgenet
11796754
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY — CTD 19168439
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE — GWAS catalog 27569725, 37156999, 37523193
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE — GWAS catalog 27569725, 37156999, 37523193
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS — CTD, Disgenet
CTD, Disgenet
32659284
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (84)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 22788679, 37406134 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis CTD_human_DG 11796754
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis CTD_human_DG 11796754
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic Lateral Sclerosis CTD_human_DG 11796754
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 20842738
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 16519809 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 20842738
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 20842738 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 26774166
★★★★★
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 39391879 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only