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

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：SAM 域、SH3 域和核定位信号 1

种属: Homo sapiens

同用名: SLy2; HACS1; NASH1; SASH2; SH3D6B

基因 ID: 64092 | 基因类型: protein coding

关于 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.

功能概要

SAMSN1 是包含 SH3 和 SAM (无菌 alpha 基序) 结构域的推定衔接子和支架蛋白的新基因家族成员 (Claudio 等人，2001 [PubMed 11536050]) 。[OMIM 提供，2008 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphotyrosine residue binding IDA
IDA: 通过直接分析推断
15381729 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
11594764 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SAMSN1 蛋白结构

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.
蛋白主名 其他名称

SAM domain-containing protein SAMSN-1

SAM and SH3 domain containing 2

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12435 SAMSN1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21925 Samsn1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28441 Samsn1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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