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

Gene ID: 64092, updated on 20-Dec-2019

Summary

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
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

Genomic context

See SAMSN1 in Genome Data Viewer
Location:
21q11.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (14485228..14583402, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (15857549..15955723, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr21.63 Neighboring gene CRISPRi-validated cis-regulatory element chr21.64 Neighboring gene SAMSN1 antisense RNA 1 Neighboring gene uncharacterized protein ENSP00000383407-like Neighboring gene uncharacterized LOC105372738 Neighboring gene CRISPRi-validated cis-regulatory element chr21.70

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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_001256370.1NP_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:307371
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    smart00454
    Location:312371
    SAM; Sterile alpha motif
    pfam12485
    Location:88232
    SLY; Lymphocyte signaling adaptor protein
    cl17036
    Location:235286
    SH3; Src Homology 3 domain superfamily
  2. NM_001286523.1NP_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, DA819791, HG380514
    Consensus CDS
    CCDS74774.1
    UniProtKB/Swiss-Prot
    Q9NSI8
    UniProtKB/TrEMBL
    S6FRS6
    Related
    ENSP00000480850.1, ENST00000619120.4
    Conserved Domains (4) summary
    cd09561
    Location:170234
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    smart00454
    Location:175234
    SAM; Sterile alpha motif
    pfam12485
    Location:195
    SLY; Lymphocyte signaling adaptor protein
    cl17036
    Location:98149
    SH3; Src Homology 3 domain superfamily
  3. NM_022136.5NP_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
    Q9NSI8
    Related
    ENSP00000383411.1, ENST00000400566.5
    Conserved Domains (3) summary
    cd09561
    Location:239303
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    pfam12485
    Location:17164
    SLY; Lymphocyte signaling adaptor protein
    cl17036
    Location:167218
    SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    14485228..14583402 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529684.2XP_011527986.1  SAM domain-containing protein SAMSN-1 isoform X1

    Conserved Domains (4) summary
    cd09561
    Location:221285
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    smart00454
    Location:226285
    SAM; Sterile alpha motif
    pfam12485
    Location:2146
    SLY; Lymphocyte signaling adaptor protein
    cl17036
    Location:149200
    SH3; Src Homology 3 domain superfamily
  2. XM_011529685.1XP_011527987.1  SAM domain-containing protein SAMSN-1 isoform X2

    Conserved Domains (4) summary
    cd09561
    Location:189253
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    smart00454
    Location:194253
    SAM; Sterile alpha motif
    pfam12485
    Location:17114
    SLY; Lymphocyte signaling adaptor protein
    cl17036
    Location:117168
    SH3; Src Homology 3 domain superfamily
  3. XM_017028427.1XP_016883916.1  SAM domain-containing protein SAMSN-1 isoform X3

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

    Conserved Domains (4) summary
    cd09561
    Location:239304
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    smart00454
    Location:244304
    SAM; Sterile alpha motif
    pfam12485
    Location:17164
    SLY; Lymphocyte signaling adaptor protein
    cl17036
    Location:167218
    SH3; Src Homology 3 domain superfamily
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