Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
23328
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
SAM and SH3 domain containing 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
SASH1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CAPOK, DUH, DUH1, SH3D6A, dJ323M4.1 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
CAPOK, DUH1 |
Chromosome
Chromosome number
|
6 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
6q24.3-q25.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 suppresso |
UniProt ID |
O94885
|
Protein name |
SAM and SH3 domain-containing protein 1 (Proline-glutamate repeat-containing protein) |
Protein function |
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 (PubM |
PDB |
2DL0
,
2EBP
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF12485
|
SLY |
401 → 555 |
Lymphocyte signaling adaptor protein |
Family |
PF07653
|
SH3_2 |
558 → 613 |
Variant SH3 domain |
Domain |
PF00536
|
SAM_1 |
633 → 695 |
SAM domain (Sterile alpha motif) |
Domain |
PF07647
|
SAM_2 |
1174 → 1239 |
SAM domain (Sterile alpha motif) |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed ubiquitously, with highest levels in lung, placenta, spleen and thymus. Down-regulated in the majority (74%) of breast tumors in comparison with corresponding normal breast epithelial tissues. Expressed in the epidermis, epid |
Sequence |
|
Sequence length |
1247 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Carcinoma |
Squamous cell carcinoma |
rs121912654, rs555607708, rs786202962, rs1564055259 |
|
Dyschromatosis universalis hereditaria |
Dyschromatosis Universalis Hereditaria 1 |
rs397514756, rs397514757, rs397514758, rs796065353, rs1562490566, rs1562489224, rs1562489156, rs1562489240, rs1562489165, rs1562489143 |
27885802, 26203640, 27659786, 23333244, 27840890, 29956681 |
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 |
27903959 |
Palmoplantar keratoderma |
Keratoderma, Palmoplantar |
rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561 View all (10 more) |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome |
pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome |
|
|
GenCC |
Dyschromatosis Universalis Hereditaria |
dyschromatosis universalis hereditaria 1 |
|
|
GenCC |
Hypothyroidism |
Hypothyroidism |
|
|
GWAS |
Diabetes |
Diabetes |
|
|
GWAS |
Lung adenocarcinoma |
Lung adenocarcinoma |
Validation that loss of Tgfbr2 results in more aggressive and T cell-excluded KP lung tumors |
|
GWAS, CBGDA |
Myocardial Infarction |
Myocardial Infarction |
|
|
GWAS |
Renal Carcinoma |
Renal Carcinoma |
|
|
GWAS |
Oligodendroglioma |
Oligodendroglioma |
|
|
GWAS |
Astrocytoma |
Astrocytoma |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Associate
|
33122723 |
Adenocarcinoma of Lung |
Associate
|
37322027 |
Alzheimer Disease |
Associate
|
37848535 |
Breast Neoplasms |
Associate
|
17088907, 27637080 |
Breast Neoplasms |
Inhibit
|
24344014, 39300116 |
Carcinogenesis |
Associate
|
26722413 |
Carcinoma Hepatocellular |
Inhibit
|
25536614 |
Carcinoma Non Small Cell Lung |
Associate
|
33122723, 33580150 |
Carcinoma Squamous Cell |
Associate
|
31642613 |
Chordoma |
Associate
|
27901492 |
Colonic Neoplasms |
Inhibit
|
17088907 |
Colorectal Neoplasms |
Inhibit
|
17088907 |
Colorectal Neoplasms |
Associate
|
30340556, 30480076 |
Dyschromatosis symmetrica hereditaria 1 |
Associate
|
25315659 |
Dyschromatosis universalis hereditaria |
Associate
|
27885802, 28382689, 32174800, 34028087, 34174894, 37543808 |
Ganglioneuroblastoma |
Associate
|
33172452 |
Glioma |
Associate
|
26424902 |
Hyperpigmentation |
Associate
|
27885802, 28382689, 32174800 |
Keratoderma Palmoplantar |
Associate
|
25315659 |
Leprosy |
Associate
|
22238647 |
Lung Neoplasms |
Associate
|
22488244, 33122723 |
Lymphatic Metastasis |
Inhibit
|
28975991 |
Neoplasm Metastasis |
Inhibit
|
17088907, 30480076 |
Neoplasm Metastasis |
Associate
|
26722413, 27178819, 30340556 |
Neoplasms |
Associate
|
17088907, 25315659, 26798410, 27178819, 39942820 |
Neoplasms |
Inhibit
|
21152398, 25315659, 26424902, 27178818, 27637080, 30480076, 33122723, 37510314, 39300116 |
Neoplasms Squamous Cell |
Associate
|
8601578 |
Neuroblastoma |
Associate
|
33172452 |
Non Muscle Invasive Bladder Neoplasms |
Associate
|
37510314 |
Pigmentation Disorders |
Associate
|
25315659 |
Pulmonary Disease Chronic Obstructive |
Associate
|
39300116 |
Retinal Dystrophies |
Associate
|
25315659 |
Skin Neoplasms |
Associate
|
25315659 |
Skull Base Neoplasms |
Associate
|
27901492 |
Smoke Inhalation Injury |
Associate
|
23372645 |
Stomach Neoplasms |
Associate
|
27178818 |
Stress Disorders Post Traumatic |
Associate
|
35999196 |
Thyroid Neoplasms |
Inhibit
|
26722413 |
Urethral Neoplasms |
Associate
|
36421334 |
Uterine Cervical Dysplasia |
Associate
|
31642613 |
Uterine Cervical Neoplasms |
Inhibit
|
28975991 |
|