Gene Gene information from NCBI Gene database.
Entrez ID 23328
Gene name SAM and SH3 domain containing 1
Gene symbol SASH1
Synonyms (NCBI Gene)
CAPOKDUHDUH1SH3D6AdJ323M4.1
Chromosome 6
Chromosome location 6q24.3-q25.1
Summary 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
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs587781245 G>A Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs1237876014 A>C,G Pathogenic Missense variant, coding sequence variant
rs1562489143 T>G Pathogenic Missense variant, coding sequence variant
rs1562489156 G>A Pathogenic Missense variant, coding sequence variant
rs1562489165 ->AAGT Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
729
miRTarBase ID miRNA Experiments Reference
MIRT017001 hsa-miR-335-5p Microarray 18185580
MIRT030781 hsa-miR-21-5p Microarray 18591254
MIRT437650 hsa-miR-181a-5p MicroarrayqRT-PCR 22815788
MIRT030781 hsa-miR-21-5p MicroarrayqRT-PCR 22815788
MIRT098786 hsa-miR-93-5p MicroarrayqRT-PCR 22815788
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IDA 23776175
GO:0001965 Function G-protein alpha-subunit binding IDA 23333244
GO:0005515 Function Protein binding IDA 23776175
GO:0005515 Function Protein binding IPI 15778465, 23333244, 36931259
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607955 19182 ENSG00000111961
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
MEDAGAAGPGPEPEPEPEPEPEPAPEPEPEPKPGAGTSEAFSRLWTDVMGILDGSLGNID
DLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEESLGFCSA
VSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVAS
EITMSDEERIQLMMMVKEKMITIEEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSS
NCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVFENSPVL
DERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESR
GLIKPPKKMGTFFSYPEEEKAQKVSRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHV
GSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRKRMSKKYSSSVSEQDSGL
DGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQTVSTTDSSTSNRESVK
SEDGDDEEPPYRGPF
CGRARVHTDFTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNN
KVGTFKFIYVDVL
SEDEEKPKRPTRRRRKGRPPQPKSVEDLLDRINLKEHMPTFLFNGYE
DLDTFKLLEEEDLDELNIRDPEHRAVLLTAVELLQ
EYDSNSDQSGSQEKLLVDSQGLSGC
SPRDSGCYESSENLENGKTRKASLLSAKSSTEPSLKSFSRNQLGNYPTLPLMKSGDALKQ
GQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCETLEGPQTVDTWPRSHSL
DDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRF
SEPQKLTTKKLEGSIAASGRGLSPPQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGT
HHPLGTKEGVDAEQRMQPKIPSQPPPVPAKKSRERLANGLHPVPMGPSGALPSPDAPCLP
VKRGSPASPTSPSDCPPALAPRPLSGQAPGSPPSTRPPPWLSELPENTSLQEHGVKLGPA
LTRKVSCARGVDLETLTENKLHAEGIDLTEEPYSDKHGRCGIPEALVQRYAEDLDQPERD
VAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVSDWLISIGLPMYAGTLST
AGFSTLSQVPSLSHTCLQEAGITEERHIRKLLSAARLFK
LPPGPEAM
Sequence length 1247
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
37
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Alopecia Likely pathogenic; Pathogenic rs587781245 RCV000144361
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma Likely pathogenic; Pathogenic rs587781245 RCV000766196
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
dyschromatosis Likely pathogenic; Pathogenic rs587781245 RCV000144361
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyschromatosis universalis hereditaria 1 Likely pathogenic; Pathogenic rs1781526992, rs374850271, rs2484380389, rs1562490566, rs1562489224, rs1562489156, rs1562489240, rs1562489165, rs1562489143 RCV003322741
RCV003322742
RCV003152824
RCV000766193
RCV000766194
View all (5 more)
★★★★★
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.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alopecia Alopecia HPO_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer Disease Alzheimer disease Pubtator 37848535 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arteriosclerosis Arteriosclerosis BEFREE 26318107
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 26318107
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 29805606
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 12771949, 17088907, 23023727, 24344014, 27637080, 28138250
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 17088907, 27637080 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24344014, 39300116 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 26722413 Associate
★☆☆☆☆
Found in Text Mining only