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

Gene ID: 64092, updated on 27-Nov-2024

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; 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
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Genomic context

See SAMSN1 in Genome Data Viewer
Location:
21q11.2
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (14485228..14659417, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (12840563..13014732, complement)
RS_2024_09 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

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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
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

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_001256370.2NP_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_001256579.3NP_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_001286523.2NP_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: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
  4. NM_001395856.1NP_001382785.1  SAM domain-containing protein SAMSN-1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AF165138, AF198098, KF457008
  5. NM_001395857.1NP_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:535599
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    cl17036
    Location:463514
    SH3; Src Homology 3 domain superfamily
  6. NM_001395858.1NP_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:567631
    SAM_SAMSN1; SAM domain of SAMSN1 subfamily
    cl17036
    Location:495546
    SH3; Src Homology 3 domain superfamily
  7. 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
    B3KWJ3, F8WAA1, Q8NFF7, Q9C041, Q9NSI8
    Related
    ENSP00000383411.2, ENST00000400566.6
    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: GCF_000001405.40-RS_2024_08

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_011529685.1XP_011527987.1  SAM domain-containing protein SAMSN-1 isoform X3

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

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

    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
  4. XM_011529686.2XP_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
  5. XM_047440941.1XP_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_054324756.1XP_054180731.1  SAM domain-containing protein SAMSN-1 isoform X3

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

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

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

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