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SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 [ Homo sapiens (human) ]

Gene ID: 64092, updated on 5-Mar-2024

Summary

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Official Symbol
SAMSN1provided by HGNC
Official Full Name
SAM domain, SH3 domain and nuclear localization signals 1provided by HGNC
Primary source
HGNC:HGNC:10528
See related
Ensembl:ENSG00000155307 MIM:607978; AllianceGenome:HGNC:10528
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SLy2; HACS1; NASH1; SASH2; SH3D6B
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]
Expression
Biased expression in bone marrow (RPKM 36.2), appendix (RPKM 25.5) and 11 other tissues See more
Orthologs
all
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Genomic context

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Location:
21q11.2
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (14485228..14659417, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (12840563..13014732, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (15857549..16031738, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:15653463-15654235 Neighboring gene ATP binding cassette subfamily C member 13 (pseudogene) Neighboring gene uncharacterized LOC105369304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18271 Neighboring gene heat shock protein family A (Hsp70) member 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18272 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:15821444-15821607 Neighboring gene CRISPRi-validated cis-regulatory element chr21.63 Neighboring gene CRISPRi-validated cis-regulatory element chr21.64 Neighboring gene uncharacterized LOC124905053 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:15905912-15907111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13214 Neighboring gene Sharpr-MPRA regulatory region 5316 Neighboring gene SAMSN1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18276 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:15988445-15989206 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:15989207-15989967 Neighboring gene uncharacterized LOC105372738 Neighboring gene CRISPRi-validated cis-regulatory element chr21.70 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18278 Neighboring gene uncharacterized LOC124905054

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Suppression of SAMSN1 Expression is Associated with the Malignant Phenotype of Hepatocellular Carcinoma. Sueoka S, et al. Ann Surg Oncol, 2015 Dec. PMID 25805236
  2. SAMSN1 is highly expressed and associated with a poor survival in glioblastoma multiforme. Yan Y, et al. PLoS One, 2013. PMID 24278465, Free PMC Article
  3. HACS1 signaling adaptor protein recognizes a motif in the paired immunoglobulin receptor B cytoplasmic domain. Kwan JJ, et al. Commun Biol, 2020 Nov 13. PMID 33188360, Free PMC Article
  4. SAMSN1 is a tumor suppressor gene in multiple myeloma. Noll JE, et al. Neoplasia, 2014 Jul. PMID 25117979, Free PMC Article
  5. Immunoinhibitory adapter protein Src homology domain 3 lymphocyte protein 2 (SLy2) regulates actin dynamics and B cell spreading. von Holleben M, et al. J Biol Chem, 2011 Apr 15. PMID 21296879, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HACS1 signaling adaptor protein recognizes a motif in the paired immunoglobulin receptor B cytoplasmic domain.
    Title: HACS1 signaling adaptor protein recognizes a motif in the paired immunoglobulin receptor B cytoplasmic domain.
  2. Suppression of SAMSN1 Expression is Associated with the Malignant Phenotype of Hepatocellular Carcinoma.
    Title: Suppression of SAMSN1 Expression is Associated with the Malignant Phenotype of Hepatocellular Carcinoma.
  3. This is the first study to identify deletion of a key gene in the C57BL/KaLwRij mice that also displays reduced gene expression in patients with MM and is therefore likely to play an integral role in MM disease development.
    Title: SAMSN1 is a tumor suppressor gene in multiple myeloma.
  4. High expression of SAMSN1 is a significant risk factor for the progression free and overall survival of glioblastoma multiforme
    Title: SAMSN1 is highly expressed and associated with a poor survival in glioblastoma multiforme.
  5. the immunoinhibitory roles of SLy2 in vivo and suggest that the physiological up-regulation of SLy2 observed upon B cell activation functions to counteract excessive B cell spreading.
    Title: Immunoinhibitory adapter protein Src homology domain 3 lymphocyte protein 2 (SLy2) regulates actin dynamics and B cell spreading.
  6. In the nucleus, SLy2 interacts with the SAP30/HDAC1 complex and regulates the activity of HDAC1.
    Title: SLy2 targets the nuclear SAP30/HDAC1 complex.
  7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  8. downregulation of SAMSN1 gene in human lung cancer.
    Title: Detailed characterization of a homozygously deleted region corresponding to a candidate tumor suppressor locus at 21q11-21 in human lung cancer.
  9. HACS1 is up-regulated by B cell activation signals and is a participant in B cell activation and differentiation.
    Title: The SH3-SAM adaptor HACS1 is up-regulated in B cell activation signaling cascades.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables phosphotyrosine residue binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphotyrosine residue binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of B cell activation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of B cell activation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of adaptive immune response ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of peptidyl-tyrosine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of peptidyl-tyrosine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ruffle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
SAM domain-containing protein SAMSN-1
Names
SAM and SH3 domain containing 2
SAM domain, SH3 domain and nuclear localisation signals, 1
SAM domain, SH3 domain and nuclear localization signals protein 1
SH3-SAM adaptor protein
Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2
hematopoietic adapter-containing SH3 and sterile I+/--motif (SAM) domains 1
hematopoietic adapter-containing SH3 and sterile alpha-motif (SAM) domains 1
hematopoietic adaptor containing SH3 and SAM domains 1
nuclear localization signals, SAM and SH3 domain containing 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001256370.2 → NP_001243299.1  SAM domain-containing protein SAMSN-1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains alternate exons at the 5' end and initiates translation from an alternate start codon compared to variant 1. The resulting longer isoform (2) has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AA747998, AF165138, AF218085
    Consensus CDS
    CCDS58786.1
    UniProtKB/Swiss-Prot
    Q9NSI8
    Related
    ENSP00000285670.2, ENST00000285670.7
    Conserved Domains (4) summary
    cd09561
    Location:307 → 371
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    smart00454
    Location:312 → 371
    SAM; Sterile alpha motif
    pfam12485
    Location:88 → 232
    SLY; Lymphocyte signaling adaptor protein
    cl17036
    Location:235 → 286
    SH3; Src Homology 3 domain superfamily

  2. NM_001256579.3 → NP_001243508.3  SAM domain-containing protein SAMSN-1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AF130351, AF165138, AF198098, KF457008
    UniProtKB/Swiss-Prot
    A8MT66

  3. NM_001286523.2 → NP_001273452.1  SAM domain-containing protein SAMSN-1 isoform 3

    See identical proteins and their annotated locations for NP_001273452.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an additional internal exon and initiates translation from an in-frame downstream start codon compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AA747998, AF218085, HG380514
    Consensus CDS
    CCDS74774.1
    UniProtKB/TrEMBL
    S6FRS6
    Related
    ENSP00000480850.1, ENST00000619120.4
    Conserved Domains (4) summary
    cd09561
    Location:170 → 234
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    smart00454
    Location:175 → 234
    SAM; Sterile alpha motif
    pfam12485
    Location:1 → 95
    SLY; Lymphocyte signaling adaptor protein
    cl17036
    Location:98 → 149
    SH3; Src Homology 3 domain superfamily

  4. NM_001395856.1 → NP_001382785.1  SAM domain-containing protein SAMSN-1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AF165138, AF198098, KF457008

  5. NM_001395857.1 → NP_001382786.1  SAM domain-containing protein SAMSN-1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AF130351, AF165138, AF198098, KF457008
    Consensus CDS
    CCDS93082.1
    UniProtKB/TrEMBL
    A0A2R8Y4K8
    Related
    ENSP00000493867.1, ENST00000647101.1
    Conserved Domains (2) summary
    cd09561
    Location:535 → 599
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    cl17036
    Location:463 → 514
    SH3; Src Homology 3 domain superfamily

  6. NM_001395858.1 → NP_001382787.1  SAM domain-containing protein SAMSN-1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AF130351, AF165138, AF198098, KF457008
    Conserved Domains (2) summary
    cd09561
    Location:567 → 631
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    cl17036
    Location:495 → 546
    SH3; Src Homology 3 domain superfamily

  7. NM_022136.5 → NP_071419.3  SAM domain-containing protein SAMSN-1 isoform 1

    See identical proteins and their annotated locations for NP_071419.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
    Source sequence(s)
    AA747998, BC029112
    Consensus CDS
    CCDS42906.1
    UniProtKB/Swiss-Prot
    B3KWJ3, F8WAA1, Q8NFF7, Q9C041, Q9NSI8
    Related
    ENSP00000383411.2, ENST00000400566.6
    Conserved Domains (3) summary
    cd09561
    Location:239 → 303
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    pfam12485
    Location:17 → 164
    SLY; Lymphocyte signaling adaptor protein
    cl17036
    Location:167 → 218
    SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    14485228..14659417 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529685.1 → XP_011527987.1  SAM domain-containing protein SAMSN-1 isoform X3

    Conserved Domains (4) summary
    cd09561
    Location:189 → 253
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    smart00454
    Location:194 → 253
    SAM; Sterile alpha motif
    pfam12485
    Location:17 → 114
    SLY; Lymphocyte signaling adaptor protein
    cl17036
    Location:117 → 168
    SH3; Src Homology 3 domain superfamily

  2. XM_047440942.1 → XP_047296898.1  SAM domain-containing protein SAMSN-1 isoform X5

  3. XM_011529684.3 → XP_011527986.1  SAM domain-containing protein SAMSN-1 isoform X2

    Conserved Domains (4) summary
    cd09561
    Location:221 → 285
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    smart00454
    Location:226 → 285
    SAM; Sterile alpha motif
    pfam12485
    Location:2 → 146
    SLY; Lymphocyte signaling adaptor protein
    cl17036
    Location:149 → 200
    SH3; Src Homology 3 domain superfamily

  4. XM_011529686.2 → XP_011527988.1  SAM domain-containing protein SAMSN-1 isoform X4

    Conserved Domains (4) summary
    cd09561
    Location:239 → 304
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    smart00454
    Location:244 → 304
    SAM; Sterile alpha motif
    pfam12485
    Location:17 → 164
    SLY; Lymphocyte signaling adaptor protein
    cl17036
    Location:167 → 218
    SH3; Src Homology 3 domain superfamily

  5. XM_047440941.1 → XP_047296897.1  SAM domain-containing protein SAMSN-1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    12840563..13014732 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324756.1 → XP_054180731.1  SAM domain-containing protein SAMSN-1 isoform X3

  2. XM_054324758.1 → XP_054180733.1  SAM domain-containing protein SAMSN-1 isoform X5

  3. XM_054324755.1 → XP_054180730.1  SAM domain-containing protein SAMSN-1 isoform X2

  4. XM_054324757.1 → XP_054180732.1  SAM domain-containing protein SAMSN-1 isoform X4

  5. XM_054324759.1 → XP_054180734.1  SAM domain-containing protein SAMSN-1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NSI8.1 GenPept UniProtKB/Swiss-Prot:Q9NSI8

Gene LinkOut

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