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  2. HAS1 - hyaluronan synthase 1 Gene

HAS1 - hyaluronan synthase 1 Gene

中文名称:透明质酸合酶 1

种属: Homo sapiens

同用名: HAS

基因 ID: 3036 | 基因类型: protein coding

关于 HAS1

Cytogenetic location: 19q13.41 Genomic coordinates (GRCh38): 19:51,713,112-51,723,991 (from NCBI)

This gene has 5 transcripts (splice variants), 102 orthologues and 2 paralogues. Broad expression in appendix (RPKM 1.7), ovary (RPKM 1.2) and 14 other tissues.

功能概要

透明质酸或透明质酸 (HA) 是由从细菌到哺乳动物的多种生物体合成的高分子量无支链多糖,并且是细胞外基质的组成部分。它由交替的葡萄糖醛酸和 N-乙酰葡糖胺残基组成,它们通过 β-1-3 和 β-1-4 糖苷键连接。 HA 由质膜内表面的膜结合合酶合成,链通过孔状结构挤出到细胞外空间。它具有多种功能,包括空间填充、关节润滑和提供细胞可以迁移的基质。 HA 在伤口愈合和组织修复过程中积极产生,为血管和成纤维细胞向内生长提供框架。 HA 血清浓度的变化与炎症和退行性关节病如类风湿性关节炎有关。此外,HA 与白细胞受体 CD44 的相互作用在白细胞的组织特异性归巢中很重要,并且 HA 受体的过度表达与肿瘤转移相关。 HAS1 是新发现的编码假定乙酰透明质酸合酶的脊椎动物基因家族的成员,其氨基酸序列与化脓性链球菌的 hasA 基因产物、非洲爪蟾的糖胺聚糖合成酶 (DG42) 和最近描述的小鼠透明质酸合酶具有显着同源性.可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 7 月]

Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

HAS1 基因产物(2)

mRNA Protein Name
NM_001297436.2 NP_001284365.1 hyaluronan synthase 1 isoform 2
NM_001523.4 NP_001514.2 hyaluronan synthase 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 identical protein binding IPI
IPI: 通过物理相互作用推断
25795779 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25795779 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to platelet-derived growth factor stimulus IDA
IDA: 通过直接分析推断
17324121 GOA
involved in negative regulation of fibroblast migration IMP
IMP: 通过突变表型推断
19577615 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
25795779 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
25795779 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

HAS1 蛋白结构

Glyco_tranf_2_3

Glyco_tranf_2_3: Glycosyltransferase like family 2 (202 - 381)

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  • 578 a.a.
蛋白主名 其他名称

hyaluronan synthase 1

HA synthase 1

HAS1 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
HAS1 Q92839 HAS1 Homo sapiens Q92839 25795779
种属内
HAS1 Q92839 HAS1 Homo sapiens Q92839 25795779
种属内
HAS1 Q92839 HAS2 Homo sapiens Q92819 25795779
种属内
HAS1 Q92839 HAS1 Homo sapiens Q92839 25795779
种属内
HAS1 Q92839 HAS3 Homo sapiens O00219 25795779
种属内
HAS1 Q92839 HAS3 Homo sapiens O00219 25795779
种属内
HAS1 Q92839 HAS2 Homo sapiens Q92819 25795779
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
Waldenstroem'S Macroglobulinemia

Waldenstrom Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Waldenström Macroglobulinemia

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstrom'S Macroglobulinaemia

Waldenstrom'S Syndrome

Waldenstrom'S Macroglobulinemia

Wm

Waldenström'S Macroglobulinemia

Malignant Lymphoma - Lymphoplasmacytic

Posterolateral Myocardial Infarction
Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Macroglobulinemia

Primary Macroglobulinemia

Waldenstrom Macroglobulinemia

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus HAS1 RGD RGD:708528
Canis familiaris HAS1 VGNC VGNC:41599
Macaca mulatta HAS1 VGNC VGNC:73347
Bos taurus HAS1 VGNC VGNC:52197
Mus musculus HAS1 MGD MGI:106590