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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
  • Hematopoietic Adapter-Containing SH3 And Sterile α-Motif (SAM) Domains 1 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 And SH3 Domain Containing 2 2 3
  • SH3-SAM Adaptor Protein 3 4
  • NASH1 3 4
  • HACS1 3 4
  • Hematopoietic Adapter-Containing SH3 And Sterile Alpha-Motif (SAM) Domains 1 3
  • SAM Domain, SH3 Domain And Nuclear Localisation Signals, 1 3
  • SAM Domain-Containing Protein SAMSN-1 3
  • SH3D6B 3
  • SASH2 3
  • 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. GO annotations related to this gene include poly(A) RNA binding and phosphotyrosine binding. An important paralog of this gene is SASH1.

UniProtKB/Swiss-Prot 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAMSN1 Gene

Genomics for SAMSN1 Gene

Regulatory Elements for SAMSN1 Gene

Enhancers for SAMSN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21F014480 1.3 FANTOM5 Ensembl ENCODE 45 +101.3 101302 3.4 L3MBTL2 MNT POLR2A KDM1A ETV6 ZBTB33 CREM SPI1 SAMSN1 LOC388813 SAMSN1-AS1 HSPA13
GH21F014692 1.1 FANTOM5 Ensembl 22.3 -108.8 -108843 0.4 SAMSN1 SAMSN1-AS1 HSPA13 NRIP1 LOC105372738 GC21P014744
GH21F014541 1.1 FANTOM5 ENCODE 19.7 +38.2 38201 7.8 PKNOX1 ATF1 GATA2 CBX5 JUNB TBX21 MBD2 SMARCA4 PBX2 STAT3 SAMSN1 SAMSN1-AS1 HSPA13
GH21F014607 0.3 FANTOM5 15.6 -24.1 -24109 0.2 SAMSN1 SAMSN1-AS1 LOC388813 NRIP1 HSPA13
GH21F014567 1.6 FANTOM5 Ensembl ENCODE 15.1 +15.5 15502 1.8 IKZF1 EED CBFB EBF1 SPI1 SAMSN1 LOC388813 NRIP1 HSPA13 SAMSN1-AS1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SAMSN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SAMSN1 Gene

Chromosome:
21
Start:
14,485,228 bp from pter
End:
14,583,402 bp from pter
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=Translation N-terminally extended.; 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

Suggested Antigen Peptide Sequences for SAMSN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NSI8

UniProtKB/Swiss-Prot:

SAMN1_HUMAN :
  • Contains 1 SAM (sterile alpha motif) domain.
Domain:
  • Contains 1 SAM (sterile alpha motif) domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with SAMSN1: view

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.

Gene Ontology (GO) - Molecular Function for SAMSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine binding IDA 15381729
GO:0044822 poly(A) RNA binding IDA 22658674
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

miRNA for SAMSN1 Gene

miRTarBase miRNAs that target SAMSN1

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for SAMSN1 Gene COMPARTMENTS Subcellular localization image for SAMSN1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SAMSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005634 nucleus IEA,IDA 11594764
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with SAMSN1: view

Pathways & Interactions for SAMSN1 Gene

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 IEA,ISS --
GO:0050732 negative regulation of peptidyl-tyrosine phosphorylation IEA,ISS --
GO:0050869 negative regulation of B cell activation IEA,ISS --
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

Transcripts for SAMSN1 Gene

Unigene Clusters for SAMSN1 Gene

SAM domain, SH3 domain and nuclear localization signals 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
SAMSN1

Expression for SAMSN1 Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for SAMSN1 Gene



Protein tissue co-expression partners for SAMSN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SAMSN1 Gene:

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.
genes like me logo Genes that share expression patterns with SAMSN1: view

Primer Products

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 34 35
  • 98.94 (n)
cow
(Bos Taurus)
Mammalia SAMSN1 34 35
  • 88.38 (n)
dog
(Canis familiaris)
Mammalia SAMSN1 34 35
  • 87.95 (n)
mouse
(Mus musculus)
Mammalia Samsn1 34 16 35
  • 83.19 (n)
rat
(Rattus norvegicus)
Mammalia Samsn1 34
  • 82.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SAMSN1 35
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SAMSN1 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAMSN1 34 35
  • 72.17 (n)
lizard
(Anolis carolinensis)
Reptilia SAMSN1 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia samsn1 34
  • 66.75 (n)
zebrafish
(Danio rerio)
Actinopterygii samsn1b 34 35
  • 59.08 (n)
samsn1a 35
  • 26 (a)
OneToMany
wufq83f12 34
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)

Paralogs for SAMSN1 Gene

Paralogs for SAMSN1 Gene

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

genes like me logo Genes that share paralogs with SAMSN1: view

Variants for SAMSN1 Gene

Sequence variations from dbSNP and Humsavar for SAMSN1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1012476 -- 14,531,146(+) TGATG(A/G)TTTAA intron-variant
rs1022446 -- 14,571,688(+) AAAAG(C/G)TAACA intron-variant
rs1028270 -- 14,517,213(+) TCCAG(C/G)CCTGG intron-variant
rs1028271 -- 14,517,232(+) GTTAC(A/G)AACTC intron-variant
rs1028272 -- 14,517,747(+) AACAC(A/T)CTGTT intron-variant

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)

Relevant External Links 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

Relevant External Links for SAMSN1

Genetic Association Database (GAD)
SAMSN1
Human Genome Epidemiology (HuGE) Navigator
SAMSN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SAMSN1

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 J.O. … Stewart A.K. (Oncogene 2001) 2 3 4 22 64
  2. The SH3-SAM adaptor HACS1 is up-regulated in B cell activation signaling cascades. (PMID: 15381729) Zhu Y.X. … Stewart A.K. (J. Exp. Med. 2004) 3 4 22 64
  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. (Biochem. Biophys. Res. Commun. 2001) 2 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M. … Janssen O. (BMC Immunol. 2009) 3 4 64

Products for SAMSN1 Gene

Sources for SAMSN1 Gene

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