SAMSN1 Gene

HGNC Family	Sterile alpha motif (SAM) domain containing (SAMD)
Name	SAM domain, SH3 domain and nuclear localization signals 1
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSAMSN1, also known as HACS1 or SLy2, has been implicated in cancer development through its altered expression in multiple tumor types. In lung cancer, for example, SAMSN1 is frequently downregulated as a consequence of deletions and loss of heterozygosity in a critical region, suggesting it may function as a tumor suppressor gene (1."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In multiple myeloma, deletion of the Samsn1 gene and promoter hypermethylation lead to reduced expression in malignant plasma cells, with re‐expression resulting in inhibition of disease progression in model systems, further supporting a tumor‐suppressive role (2."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Moreover, emerging studies are evaluating the prognostic significance of SAMSN1 in glioma (3"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "and identifying its potential as a molecular marker in hepatocellular carcinoma (4."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn the context of the immune system, SAMSN1 plays a multifaceted role in modulating B cell function. It is up‐regulated in B cells exposed to activation signals (such as interleukin‑4, CD40 ligation, and B cell receptor engagement), where it participates in the regulation of B cell differentiation and may curtail excessive activation responses (5."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Moreover, SAMSN1 contributes to the reorganization of the actin cytoskeleton, influencing processes such as cell spreading, polarization, and membrane ruffling, which are critical for proper B cell function (6."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " At the molecular level, SAMSN1 undergoes post‑translational modifications that regulate its nucleo‑cytoplasmic shuttling through interactions with 14‑3‑3 proteins and ultimately its association with chromatin‑remodeling complexes (7."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " In addition, its SH3 domain directly interacts with inhibitory motifs—such as those in the paired immunoglobulin receptor—which may allow SAMSN1 to integrate distinct signaling pathways that impact both immune responses and cellular differentiation (8."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Hideki Yamada, Kiyoshi Yanagisawa, Shogo Tokumaru, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Detailed characterization of a homozygously deleted region corresponding to a candidate tumor suppressor locus at 21q11-21 in human lung cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Chromosomes Cancer (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/gcc.20582"}], "href": "https://doi.org/10.1002/gcc.20582"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18523997"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18523997"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jacqueline E Noll, Duncan R Hewett, Sharon A Williams, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SAMSN1 is a tumor suppressor gene in multiple myeloma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neoplasia (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neo.2014.07.002"}], "href": "https://doi.org/10.1016/j.neo.2014.07.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25117979"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25117979"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Yong Yan, Lei Zhang, Tao Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SAMSN1 is highly expressed and associated with a poor survival in glioblastoma multiforme."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0081905"}], "href": "https://doi.org/10.1371/journal.pone.0081905"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24278465"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24278465"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Satoshi Sueoka, Mitsuro Kanda, Hiroyuki Sugimoto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Suppression of SAMSN1 Expression is Associated with the Malignant Phenotype of Hepatocellular Carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Surg Oncol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1245/s10434-015-4524-1"}], "href": "https://doi.org/10.1245/s10434-015-4524-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25805236"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25805236"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yuan Xiao Zhu, Sally Benn, Zhi Hua Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The SH3-SAM adaptor HACS1 is up-regulated in B cell activation signaling cascades."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Exp Med (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1084/jem.20031816"}], "href": "https://doi.org/10.1084/jem.20031816"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15381729"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15381729"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Max von Holleben, Antje Gohla, Klaus-Peter Janssen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Immunoinhibitory adapter protein Src homology domain 3 lymphocyte protein 2 (SLy2) regulates actin dynamics and B cell spreading."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M110.155184"}], "href": "https://doi.org/10.1074/jbc.M110.155184"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21296879"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21296879"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Simone Brandt, Kornelia Ellwanger, Cornelia Beuter-Gunia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SLy2 targets the nuclear SAP30/HDAC1 complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biochem Cell Biol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.biocel.2010.05.004"}], "href": "https://doi.org/10.1016/j.biocel.2010.05.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20478393"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20478393"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Jamie J Kwan, Sladjana Slavkovic, Michael Piazza, et al. "}, {"type": "b", "children": [{"type": "t", "text": "HACS1 signaling adaptor protein recognizes a motif in the paired immunoglobulin receptor B cytoplasmic domain."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Commun Biol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s42003-020-01397-z"}], "href": "https://doi.org/10.1038/s42003-020-01397-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33188360"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33188360"}]}]}]}
Synonyms	SLY2, HACS1, SASH2, SH3D6B, NASH1
Proteins	SAMN1_HUMAN
NCBI Gene ID	64092
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SAMSN1 has 6,611 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 117 datasets.

Click the + buttons to view associations for SAMSN1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SAMSN1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SAMSN1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of SAMSN1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of SAMSN1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of SAMSN1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of SAMSN1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SAMSN1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of SAMSN1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SAMSN1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SAMSN1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of SAMSN1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SAMSN1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of SAMSN1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with SAMSN1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with SAMSN1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SAMSN1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SAMSN1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of SAMSN1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of SAMSN1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SAMSN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing SAMSN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with SAMSN1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with SAMSN1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of SAMSN1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SAMSN1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with SAMSN1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with SAMSN1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by SAMSN1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with SAMSN1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with SAMSN1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with SAMSN1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at SAMSN1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SAMSN1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of SAMSN1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing SAMSN1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with SAMSN1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with SAMSN1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of SAMSN1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with SAMSN1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing SAMSN1 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of SAMSN1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.