2. Gene
  3. SAMSN1 - SAM domain, SH3 domain and nuclear localization signals 1 Gene

SAMSN1 - SAM domain, SH3 domain and nuclear localization signals 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SLy2; HACS1; NASH1; SASH2; SH3D6B

Gene ID: 64092 | Gene type: protein coding

About SAMSN1

Cytogenetic location: 21q11.2 Genomic coordinates (GRCh38): 21:14,485,228-14,659,417 (from NCBI)

This gene has 12 transcripts (splice variants), 266 orthologues and 2 paralogues. Biased expression in bone marrow (RPKM 36.2), appendix (RPKM 25.5) and 11 other tissues.

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]

SAMSN1 Products(7)

mRNA Protein Name
NM_001256370.2 NP_001243299.1 SAM domain-containing protein SAMSN-1 isoform 2
NM_001256579.3 NP_001243508.3 SAM domain-containing protein SAMSN-1 isoform 4
NM_001286523.2 NP_001273452.1 SAM domain-containing protein SAMSN-1 isoform 3
NM_001395856.1 NP_001382785.1 SAM domain-containing protein SAMSN-1 isoform 5
NM_001395857.1 NP_001382786.1 SAM domain-containing protein SAMSN-1 isoform 6
NM_001395858.1 NP_001382787.1 SAM domain-containing protein SAMSN-1 isoform 7
NM_022136.5 NP_071419.3 SAM domain-containing protein SAMSN-1 isoform 1
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables phosphotyrosine residue binding IDA
IDA: Inferred from direct assay
15381729 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
11594764 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SAMSN1 Protein Structure

SLY

SLY: Lymphocyte signaling adaptor protein (16 - 164)

SH3_2

SH3_2: Variant SH3 domain (167 - 219)

SAM_2

SAM_2: SAM domain (Sterile alpha motif) (240 - 302)

  • 0
  • 100
  • 200
  • 300
  • 373 a.a.
Protein Preferred Names Protein Names

SAM domain-containing protein SAMSN-1

SAM and SH3 domain containing 2

Related Diseases

Diseases Alias
Congenital Disorder Of Glycosylation, Type Ip

CDG1P

Congenital Disorder Of Glycosylation Ip

Congenital Disorder Of Glycosylation 1p

Alg11-Cdg

Cdg-Ip

Congenital Disorder Of Glycosylation Type Ip

Cdg Syndrome Type Ip

Carbohydrate Deficient Glycoprotein Syndrome Type Ip

Congenital Disorder Of Glycosylation Type 1p

Cdgip

Cdg Ip

Glycosylation, Congenital Disorder Of, Type Ip
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS12435 SAMSN1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris SAMSN1 VGNC VGNC:45857
Mus musculus SAMSN1 MGD MGI:1914992
Felis catus SAMSN1 VGNC VGNC:64867
Bos taurus SAMSN1 VGNC VGNC:34279
Macaca mulatta SAMSN1 VGNC VGNC:81755
Rattus norvegicus SAMSN1 RGD RGD:620926