2. Gene
  3. SASH1 - SAM and SH3 domain containing 1 Gene

SASH1 - SAM and SH3 domain containing 1 Gene

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

中文名称：含 SAM 和 SH3 域 1

种属: Homo sapiens

同用名: DUH1; CAPOK; SH3D6A; dJ323M4.1

基因 ID: 23328 | 基因类型: protein coding

关于 SASH1

Cytogenetic location: 6q24.3-q25.1 Genomic coordinates (GRCh38): 6:148,193,468-148,552,044 (from NCBI)

This gene has 10 transcripts (splice variants), 265 orthologues, 2 paralogues and is associated with 4 phenotypes. Broad expression in esophagus (RPKM 20.2), fat (RPKM 19.4) and 23 other tissues.

功能概要

该基因编码参与 TLR4 信号通路的支架蛋白，可刺激细胞因子产生和内皮细胞迁移以应对入侵的病原体。编码的蛋白质也被描述为潜在的肿瘤抑制因子，可以负向调节癌细胞的增殖、凋亡和侵袭，并且已经在多种人类癌症中观察到该基因的表达降低。该基因的突变可能与人类患者皮肤色素沉着异常有关。[RefSeq 提供，2016 年 10 月]

This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, Apoptosis, and invasion of Cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]

SASH1 基因产物(6)

mRNA Protein Name
NM_001346505.2 NP_001333434.1 SAM and SH3 domain-containing protein 1 isoform 2
NM_001346506.2 NP_001333435.1 SAM and SH3 domain-containing protein 1 isoform 3
NM_001346507.2 NP_001333436.1 SAM and SH3 domain-containing protein 1 isoform 4
NM_001346508.2 NP_001333437.1 SAM and SH3 domain-containing protein 1 isoform 5
NM_001346509.2 NP_001333438.1 SAM and SH3 domain-containing protein 1 isoform 6
NM_015278.5 NP_056093.3 SAM and SH3 domain-containing protein 1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables G-protein alpha-subunit binding IDA
IDA: 通过直接分析推断
23333244 GOA
enables mitogen-activated protein kinase kinase kinase binding IDA
IDA: 通过直接分析推断
23776175 GOA
enables molecular adaptor activity IDA
IDA: 通过直接分析推断
23776175 GOA
enables protein binding IDA
IDA: 通过直接分析推断
23776175 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15778465 GOA
enables protein kinase binding IDA
IDA: 通过直接分析推断
23776175 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within positive regulation of JUN kinase activity IMP
IMP: 通过突变表型推断
23776175 GOA
acts upstream of or within positive regulation of angiogenesis IMP
IMP: 通过突变表型推断
23776175 GOA
acts upstream of or within positive regulation of endothelial cell migration IDA
IDA: 通过直接分析推断
23776175 GOA
acts upstream of or within positive regulation of lipopolysaccharide-mediated signaling pathway IMP
IMP: 通过突变表型推断
23776175 GOA
acts upstream of or within positive regulation of non-canonical NF-kappaB signal transduction IMP
IMP: 通过突变表型推断
23776175 GOA
acts upstream of or within positive regulation of p38MAPK cascade IMP
IMP: 通过突变表型推断
23776175 GOA
acts upstream of or within protein polyubiquitination IDA
IDA: 通过直接分析推断
23776175 GOA
involved in regulation of epithelial cell migration IMP
IMP: 通过突变表型推断
23333244 GOA
acts upstream of or within regulation of protein K63-linked ubiquitination IDA
IDA: 通过直接分析推断
23776175 GOA
acts upstream of or within regulation of protein autoubiquitination IDA
IDA: 通过直接分析推断
23776175 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
23333244 GOA
part of protein-containing complex IMP
IMP: 通过突变表型推断
23776175 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

SASH1 蛋白结构

SLY

SLY: Lymphocyte signaling adaptor protein (400 - 555)

SH3_2

SH3_2: Variant SH3 domain (558 - 610)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (635 - 693)

SAM_2

SAM_2: SAM domain (Sterile alpha motif) (1179 - 1237)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1247 a.a.
蛋白主名 其他名称

SAM and SH3 domain-containing protein 1

proline-glutamate repeat-containing protein

SASH1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SASH1 O94885 SFN Homo sapiens P31947
TAP
15778465
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma

CAPOK

Capok Syndrome

Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome
Dyschromatosis Universalis Hereditaria 1

DUH1

Dyschromatosis Universalis Hereditaria, Type 1
Lentiginosis, Inherited Patterned

Lentiginosis Profusa

Lentiginosis, Generalized

Lentiginosis, Diffuse

Familial Generalized Lentiginosis

Familial Lentigines Profusa

Familial Multiple Lentigines Syndrome Without Systemic Involvement
Alopecia
Palmoplantar Keratosis

Palmoplantar Keratoderma

Keratosis Palmaris Et Plantaris

Palmo-Plantar Keratodermas

Keratoderma, Palmoplantar

Keratoderma Palmoplantar

Keratoderma, Palmoplantar, Diffuse

Hyperkeratosis Of Palms And Soles

Palmoplantar Hyperkeratosis
Dyschromatosis Universalis Hereditaria

Duh
Reticulate Acropigmentation Of Kitamura

RAK

Acropigmentatio Reticularis

Reticulate Pigmentation Of Kitamura

Rpk

Kitamura Reticulate Acropigmentation

Rapk
Dyschromatosis Symmetrica Hereditaria

Dyschromatosis Symmetrica Hereditaria 1

Reticulate Acropigmentation Of Dohi

DSH

Dsh1

Symmetric Dyschromatosis Of The Extremities

Rad

Familial Reticulate Acropigmentation Of Dohi

Acropigmentation Of Dohi

Symmetrical Dyschromatosis Of Extremities
Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome

Syndromic Diarrhea

Tricho-Hepato-Enteric Syndrome

Sd/The

Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome

THES1

Phenotypic Diarrhea

Thes

Phenotypic Diarrhea Of Infancy

Diarrhea, Syndromic

Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa

Intractable Diarrhea With Phenotypic Anomalies

Syndromatic Diarrhea

Fatal Infantile Diarrhea With Trichorrhexis Nodosa
Vascular Skin Disease

Skin Diseases, Vascular

Skin Vascular Disease
Hairy Tongue

Overgrowth Of Filiform Papillae

Tongue, Hairy
Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation

Epidermolysis Bullosa Simplex With Mottled Pigmentation

Ebsmp

Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering

Ebs-Mp

EBS2F

Ebs With Mottled Pigmentation

Epidermolysis Bullosa Simplex-Mp

Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering

Epidermolysis Bullosa Simplex, With Mottled Pigmentation
Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures

Dark Dot Disease

Reticulate Acropigmentation Of Kitamura

Dowling-Degos Kitamura Disease

Kitamura Reticulate Acropigmentation

Ddd

Dowling-Degos-Kitamura Disease

Reticular Pigmented Anomaly Of Flexures
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12452 SASH1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SASH1 RGD RGD:1566017
Macaca mulatta SASH1 VGNC VGNC:77052
Bos taurus SASH1 VGNC VGNC:34293
Mus musculus SASH1 MGD MGI:1917347
Canis familiaris SASH1 VGNC VGNC:45871
Felis catus SASH1 VGNC VGNC:64878
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