SAMSN1 (SAM domain, SH3 domain and nuclear localization signals 1)

Gene

• Entrez ID: 64092
• Gene name: SAM domain, SH3 domain and nuclear localization signals 1
• Gene symbol: SAMSN1
• Synonyms (NCBI Gene): HACS1, NASH1, SASH2, SH3D6B, SLy2
• Chromosome: 21
• Chromosome location: 21q11.2
• Summary: SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021787	hsa-miR-132-3p	Microarray	17612493
MIRT022936	hsa-miR-124-3p	Microarray	18668037
MIRT025914	hsa-miR-7-5p	Microarray	17612493
MIRT1325694	hsa-miR-3691-5p	CLIP-seq
MIRT1325695	hsa-miR-4318	CLIP-seq
MIRT1325696	hsa-miR-4643	CLIP-seq
MIRT1325697	hsa-miR-466	CLIP-seq
MIRT1325698	hsa-miR-4752	CLIP-seq
MIRT1325699	hsa-miR-4772-5p	CLIP-seq
MIRT1325700	hsa-miR-4789-3p	CLIP-seq
MIRT1325701	hsa-miR-548a-3p	CLIP-seq
MIRT1325702	hsa-miR-548e	CLIP-seq
MIRT1325703	hsa-miR-548f	CLIP-seq
MIRT2321025	hsa-miR-1183	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IEA
GO:0001784	Function	Phosphotyrosine residue binding	IBA
GO:0001784	Function	Phosphotyrosine residue binding	IDA	15381729
GO:0002820	Process	Negative regulation of adaptive immune response	IEA
GO:0002820	Process	Negative regulation of adaptive immune response	ISS
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11594764
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0042995	Component	Cell projection	IEA
GO:0050732	Process	Negative regulation of peptidyl-tyrosine phosphorylation	ISS
GO:0050869	Process	Negative regulation of B cell activation	IBA
GO:0050869	Process	Negative regulation of B cell activation	IEA
GO:0050869	Process	Negative regulation of B cell activation	ISS
GO:1902531	Process	Regulation of intracellular signal transduction	IBA

Other IDs

• MIM: 607978
• HGNC: 10528
• e!Ensembl: ENSG00000155307

Protein

• UniProt ID: Q9NSI8
• Protein name: SAM domain-containing protein SAMSN-1 (Hematopoietic adaptor containing SH3 and SAM domains 1) (Nash1) (SAM domain, SH3 domain and nuclear localization signals protein 1) (SH3-SAM adaptor protein)
• Protein function: Negative regulator of B-cell activation. Down-regulates cell proliferation (in vitro). Promotes RAC1-dependent membrane ruffle formation and reorganization of the actin cytoskeleton. Regulates cell spreading and cell polarization. Stimulates HDA
• PDB: 6UZJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12485	SLY	17 → 164	Lymphocyte signaling adaptor protein	Family
  PF07653	SH3_2	167 → 222	Variant SH3 domain	Domain
  PF07647	SAM_2	238 → 303	SAM domain (Sterile alpha motif)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in peripheral blood B-cells (at protein level). Detected in spleen, liver and peripheral blood. {ECO:0000269|PubMed:11594764, ECO:0000269|PubMed:15381729}.
• Sequence:

  MLKRKPSNVSEKEKHQKPKRSSSFGNFDRFRNNSLSKPDDSTEAHEGDPTNGSGEQSKTS
  NNGGGLGKKMRAISWTMKKKVGKKYIKALSEEKDEEDGENAHPYRNSDPVIGTHTEKVSL
  KASDSMDSLYSGQSSSSGITSCSDGTSNRDSFRLDDDGPYSGPFCGRARVHTDFTPSPYD
  TDSLKIKKGDIIDIICKTPMGMWTGMLNNKVGNFKFIYVDVISEEEAAPKKIKANRRSNS
  KKSKTLQEFLERIHLQEYTSTLLLNGYETLEDLKDIKESHLIELNIENPDDRRRLLSAAE
  NFLEEEIIQEQENEPEPLSLSSDISLNKSQLDDCPRDSGCYISSGNSDNGKEDLESENLS
  DMVHKIIITEPSD

• Sequence length: 373

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOARDING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	28148900		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28355232		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28355232		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	28355232	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	40629026	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18523997		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	38206700	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	12624743		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24278465		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24278465	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24278465		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24278465		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24278465	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	11536050		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25805236		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18523997		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36969247	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	24278465		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18523997		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25117979, 26020268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	31863085	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25117979, 25805236		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	30521368		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34925639, 38206700	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	28927462	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	34925639	Associate	★☆☆☆☆ Found in Text Mining only