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] See more...

Aliases for SAMSN1 Gene

Aliases for SAMSN1 Gene

  • SAM Domain, SH3 Domain And Nuclear Localization Signals 1 2 3 5
  • Src Homology Domain 3 (SH3)-Containing Adapter Protein SH3 Lymphocyte Protein 2 2 3
  • SAM Domain, SH3 Domain And Nuclear Localization Signals Protein 1 3 4
  • Nuclear Localization Signals, SAM And SH3 Domain Containing 1 2 3
  • Hematopoietic Adaptor Containing SH3 And SAM Domains 1 3 4
  • SAM Domain-Containing Protein SAMSN-1 3 4
  • SAM And SH3 Domain Containing 2 2 3
  • SH3-SAM Adaptor Protein 3 4
  • HACS1 3 4
  • Hematopoietic Adapter-Containing SH3 And Sterile Alpha-Motif (SAM) Domains 1 3
  • Hematopoietic Adapter-Containing SH3 And Sterile I+/--Motif (SAM) Domains 1 3
  • Hematopoietic Adapter-Containing SH3 And Sterile Α-Motif (SAM) Domains 1 2
  • SAM Domain, SH3 Domain And Nuclear Localisation Signals, 1 3
  • SH3D6B 3
  • NASH1 3
  • SASH2 3
  • Nash1 4
  • SLy2 3

External Ids for SAMSN1 Gene

Previous GeneCards Identifiers for SAMSN1 Gene

  • GC21M012521
  • GC21M014779
  • GC21M015857
  • GC21M001240

Summaries for SAMSN1 Gene

Entrez Gene Summary for SAMSN1 Gene

  • 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]

GeneCards Summary for SAMSN1 Gene

SAMSN1 (SAM Domain, SH3 Domain And Nuclear Localization Signals 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include phosphotyrosine residue binding. An important paralog of this gene is SASH1.

UniProtKB/Swiss-Prot Summary for SAMSN1 Gene

  • 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 HDAC1 activity. Regulates LYN activity by modulating its tyrosine phosphorylation (By similarity).

Additional gene information for SAMSN1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SAMSN1 Gene

Genomics for SAMSN1 Gene

GeneHancer (GH) Regulatory Elements for SAMSN1 Gene

Promoters and enhancers for SAMSN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J014541 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 519.6 +113.6 113619 7.8 ZBTB40 GTF2E2 EP300 POLR2A AFF1 RELA TOE1 MYC JUN TRIM22 SAMSN1 lnc-HSPA13-4 HSPA13 lnc-HSPA13-5 piR-61101-420 SAMSN1-AS1
GH21J014481 Enhancer 0.9 FANTOM5 ENCODE 45 +176.6 176566 1.4 POLR2G ARNT SPI1 POU2F2 ATF2 POLR2A NFATC1 BCL3 NFIC BHLHE40 SAMSN1 SAMSN1-AS1 HSPA13 piR-31534-423 HSALNG0131946
GH21J014692 Enhancer 0.8 FANTOM5 Ensembl 22.5 -32.7 -32680 2.6 TRIM24 CEBPG FOS CEBPB FOSL1 ATF4 ZNF148 JUND SAMSN1 SAMSN1-AS1 HSPA13 NRIP1 LOC105372738 piR-31534-424
GH21J014567 Enhancer 1.1 FANTOM5 Ensembl ENCODE 14.9 +89.8 89820 4.8 EP300 RBM25 CBFB GABPA CEBPG FOS ARNT PBX2 SPI1 BCOR SAMSN1 LIPI NRIP1 HSPA13 HG984040 SAMSN1-AS1 lnc-HSPA13-3
GH21J014450 Enhancer 1.4 FANTOM5 Ensembl ENCODE 11.9 +205.4 205371 5 SP1 PHB2 EP300 AFF1 TARDBP REST RELA HES1 MEF2C MYC SAMSN1 SAMSN1-AS1 HSALNG0131946 piR-31534-423
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SAMSN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SAMSN1

Top Transcription factor binding sites by QIAGEN in the SAMSN1 gene promoter:
  • AML1a
  • POU3F2
  • POU3F2 (N-Oct-5a)

Genomic Locations for SAMSN1 Gene

Genomic Locations for SAMSN1 Gene
chr21:14,485,228-14,658,821
(GRCh38/hg38)
Size:
173,594 bases
Orientation:
Minus strand
chr21:15,857,549-15,955,723
(GRCh37/hg19)
Size:
98,175 bases
Orientation:
Minus strand

Genomic View for SAMSN1 Gene

Genes around SAMSN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAMSN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAMSN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAMSN1 Gene

Proteins for SAMSN1 Gene

  • Protein details for SAMSN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSI8-SAMN1_HUMAN
    Recommended name:
    SAM domain-containing protein SAMSN-1
    Protein Accession:
    Q9NSI8
    Secondary Accessions:
    • B3KWJ3
    • F8WAA1
    • Q8NFF7
    • Q9C041

    Protein attributes for SAMSN1 Gene

    Size:
    373 amino acids
    Molecular mass:
    41708 Da
    Quaternary structure:
    • Interacts with FASLG. Interacts with phosphotyrosine containing proteins. Interacts (via SH3 domain) with CTTN. Interacts (phosphorylated at Ser-23) with YWHAB, YWHAE, YWHAG, YWHAH, YWHAZ and SFN. Interacts directly with SAP30 and HDAC1. Identified in a complex with SAP30 and HDAC1 (By similarity).
    SequenceCaution:
    • Sequence=AAK07746.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SAMSN1 Gene

    Alternative splice isoforms for SAMSN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SAMSN1 Gene

Post-translational modifications for SAMSN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SAMSN1 Gene

Domains & Families for SAMSN1 Gene

Gene Families for SAMSN1 Gene

Protein Domains for SAMSN1 Gene

Blocks:
  • SH3 domain signature
  • Variant SH3
  • Sterile alpha motif SAM
  • Sterile alpha motif homology 2
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SAMSN1 Gene

GenScript: Design optimal peptide antigens:
  • SH3-SAM adaptor protein (SAMN1_HUMAN)
genes like me logo Genes that share domains with SAMSN1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SAMSN1 Gene

Function for SAMSN1 Gene

Molecular function for SAMSN1 Gene

UniProtKB/Swiss-Prot 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 HDAC1 activity. Regulates LYN activity by modulating its tyrosine phosphorylation (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated in peripheral blood B-cells by IL4, IL13 and by CD40 stimulation.

Phenotypes From GWAS Catalog for SAMSN1 Gene

Gene Ontology (GO) - Molecular Function for SAMSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine residue binding IDA 15381729
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with SAMSN1: view
genes like me logo Genes that share phenotypes with SAMSN1: view

Animal Models for SAMSN1 Gene

MGI Knock Outs for SAMSN1:

Animal Model Products

CRISPR Products

miRNA for SAMSN1 Gene

miRTarBase miRNAs that target SAMSN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SAMSN1 Gene

Localization for SAMSN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAMSN1 Gene

Nucleus. Cytoplasm. Cell projection, ruffle. Note=Shuttles between cytoplasm and nucleus. Colocalizes with the actin cytoskeleton and actin-rich membrane ruffles (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAMSN1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SAMSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005634 nucleus IDA,IBA 11594764
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with SAMSN1: view

Pathways & Interactions for SAMSN1 Gene

PathCards logo

SuperPathways for SAMSN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SAMSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002820 negative regulation of adaptive immune response ISS,IEA --
GO:0050732 negative regulation of peptidyl-tyrosine phosphorylation IBA,ISS --
GO:0050869 negative regulation of B cell activation ISS,IEA --
genes like me logo Genes that share ontologies with SAMSN1: view

No data available for Pathways by source and SIGNOR curated interactions for SAMSN1 Gene

Drugs & Compounds for SAMSN1 Gene

No Compound Related Data Available

Transcripts for SAMSN1 Gene

mRNA/cDNA for SAMSN1 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SAMSN1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
SP1: - - - - - -
SP2: - - - -
SP3: - - - - - - - - -
SP4:
SP5:
SP6: -

Relevant External Links for SAMSN1 Gene

GeneLoc Exon Structure for
SAMSN1

Expression for SAMSN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SAMSN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SAMSN1 Gene

This gene is overexpressed in Whole Blood (x25.3).

Protein differential expression in normal tissues from HIPED for SAMSN1 Gene

This gene is overexpressed in Urine (39.8), Peripheral blood mononuclear cells (12.8), and Blymphocyte (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SAMSN1 Gene



Protein tissue co-expression partners for SAMSN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SAMSN1

SOURCE GeneReport for Unigene cluster for SAMSN1 Gene:

Hs.473341

mRNA Expression by UniProt/SwissProt for SAMSN1 Gene:

Q9NSI8-SAMN1_HUMAN
Tissue specificity: Detected in peripheral blood B-cells (at protein level). Detected in spleen, liver and peripheral blood.

Evidence on tissue expression from TISSUES for SAMSN1 Gene

  • Bone marrow(2.3)
genes like me logo Genes that share expression patterns with SAMSN1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SAMSN1 Gene

Orthologs for SAMSN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SAMSN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SAMSN1 31 30
  • 98.94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SAMSN1 31 30
  • 88.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SAMSN1 31 30
  • 87.95 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Samsn1 17 31 30
  • 83.19 (n)
rat
(Rattus norvegicus)
Mammalia Samsn1 30
  • 82.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SAMSN1 31
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SAMSN1 31
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAMSN1 31 30
  • 72.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SAMSN1 31
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia samsn1 30
  • 66.75 (n)
zebrafish
(Danio rerio)
Actinopterygii samsn1b 31 30
  • 59.08 (n)
OneToMany
samsn1a 31
  • 26 (a)
OneToMany
wufq83f12 30
Species where no ortholog for SAMSN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SAMSN1 Gene

ENSEMBL:
Gene Tree for SAMSN1 (if available)
TreeFam:
Gene Tree for SAMSN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SAMSN1: view image

Paralogs for SAMSN1 Gene

Paralogs for SAMSN1 Gene

(2) SIMAP similar genes for SAMSN1 Gene using alignment to 5 proteins:

  • SAMN1_HUMAN
  • F8WAA1_HUMAN
  • S6FRS6_HUMAN
  • S6G0C9_HUMAN
  • S6G369_HUMAN
genes like me logo Genes that share paralogs with SAMSN1: view

Variants for SAMSN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SAMSN1 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
718365 Likely Benign: not provided 14,582,274(-) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
731855 Benign: not provided 14,510,301(-) T/C INTRON_VARIANT
rs34607574 - p.Gly63Ala

Additional dbSNP identifiers (rs#s) for SAMSN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SAMSN1 Gene

Variant ID Type Subtype PubMed ID
dgv7764n54 CNV loss 21841781
esv2763685 CNV gain 21179565
esv3646433 CNV gain 21293372
esv3646434 CNV gain 21293372
nsv470879 CNV gain 18288195
nsv522627 CNV gain 19592680
nsv523557 CNV loss 19592680
nsv587047 CNV loss 21841781
nsv587048 CNV gain 21841781
nsv587049 CNV loss 21841781
nsv834045 CNV loss 17160897
nsv834046 CNV gain+loss 17160897
nsv953341 CNV duplication 24416366

Variation tolerance for SAMSN1 Gene

Residual Variation Intolerance Score: 54.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.42; 85.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SAMSN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAMSN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAMSN1 Gene

Disorders for SAMSN1 Gene

Additional Disease Information for SAMSN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SAMSN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SAMSN1 Gene

Publications for SAMSN1 Gene

  1. HACS1 encodes a novel SH3-SAM adaptor protein differentially expressed in normal and malignant hematopoietic cells. (PMID: 11536050) Claudio JO … Stewart AK (Oncogene 2001) 2 3 4 23 54
  2. The SH3-SAM adaptor HACS1 is up-regulated in B cell activation signaling cascades. (PMID: 15381729) Zhu YX … Stewart AK (The Journal of experimental medicine 2004) 3 4 23 54
  3. Identification of Nash1, a novel protein containing a nuclear localization signal, a sterile alpha motif, and an SH3 domain preferentially expressed in mast cells. (PMID: 11594764) Uchida T … Ogawa H (Biochemical and biophysical research communications 2001) 2 3 4 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M … Janssen O (BMC immunology 2009) 3 4 54

Products for SAMSN1 Gene

Sources for SAMSN1 Gene