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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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 |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Alopecia |
Likely pathogenic; Pathogenic |
rs587781245 |
RCV000144361 |
| Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma |
Likely pathogenic; Pathogenic |
rs587781245 |
RCV000766196 |
| dyschromatosis |
Likely pathogenic; Pathogenic |
rs587781245 |
RCV000144361 |
| Dyschromatosis universalis hereditaria 1 |
Likely pathogenic; Pathogenic |
rs1781526992, rs374850271, rs2484380389, rs1562490566, rs1562489224, rs1562489156, rs1562489240, rs1562489165, rs1562489143 |
RCV003322741 RCV003322742 RCV003152824 RCV000766193 RCV000766194 RCV000766195 RCV000766197 RCV000766199 RCV000766200 RCV000766201 |
| Palmoplantar keratoderma |
Likely pathogenic; Pathogenic |
rs587781245 |
RCV000144361 |
| spino-cellular carcinoma |
Likely pathogenic; Pathogenic |
rs587781245 |
RCV000144361 |
| Ungual dystrophy |
Likely pathogenic; Pathogenic |
rs587781245 |
RCV000144361 |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cholangiocarcinoma |
Benign |
rs2294776 |
RCV005919753 |
| Gastric cancer |
Benign |
rs2294776 |
RCV005919751 |
| Hepatocellular carcinoma |
Benign |
rs2294776 |
RCV005919750 |
| Hereditary cancer |
Conflicting classifications of pathogenicity |
rs139892427 |
RCV003492815 |
| Lung cancer |
Benign; Likely benign |
rs2294776, rs144633784 |
RCV005919754 RCV005910408 |
| SASH1-related disorder |
Benign; Likely benign; Uncertain significance |
rs13196292, rs2294787, rs200385590, rs149897928, rs141159728, rs35487674, rs748195660, rs374374360, rs768804300, rs149965187, rs142772838, rs912899676, rs759856682, rs76979348, rs140254763, rs181294022, rs373610885, rs111485793, rs150056851, rs116958992, rs147972493, rs61996301, rs150728102, rs151028643, rs140316955, rs145956049, rs141946222 View all (12 more) |
RCV003975892 RCV003968485 RCV003946608 RCV003908957 RCV003921402 RCV003923857 RCV003893791 RCV003904195 RCV003974170 RCV003941795 RCV003934007 RCV003939855 RCV003944096 RCV003959626 RCV003972031 RCV003931511 RCV003931688 RCV003914785 RCV003939295 RCV003939432 RCV003956902 RCV003956942 RCV003932190 RCV003932226 RCV003934314 RCV003966761 RCV003953337 RCV003928528 RCV003940690 RCV003920786 |
| Uterine carcinosarcoma |
Benign |
rs2294776 |
RCV005919752 |
|
| 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 |
|