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  2. HYOU1 - hypoxia up-regulated 1 Gene

HYOU1 - hypoxia up-regulated 1 Gene

中文名称:缺氧上调 1

种属: Homo sapiens

同用名: IMD59; Grp170; HSP12A; ORP150; GRP-170; ORP-150

基因 ID: 10525 | 基因类型: protein coding

关于 HYOU1

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:119,044,188-119,057,205 (from NCBI)

This gene has 29 transcripts (splice variants), 1 gene allele, 209 orthologues, 13 paralogues and is associated with 1 phenotype. Broad expression in thyroid (RPKM 93.3), testis (RPKM 55.6) and 25 other tissues.

功能概要

该基因编码的蛋白质属于热休克蛋白 70 家族。该基因使用替代转录起始位点。在 5' UTR 中发现的顺式作用片段参与应激依赖性诱导,导致这种蛋白质在缺氧条件下在内质网 (ER) 中积累。该基因编码的蛋白质被认为在 ER 的蛋白质折叠和分泌中起着重要作用。由于抑制该蛋白与加速细胞凋亡有关,因此还表明它在缺氧诱导的细胞扰动中具有重要的细胞保护作用。这种蛋白质已被证明在肿瘤中被上调,尤其是在乳腺肿瘤中,因此它与肿瘤侵袭性有关。该基因还有一个替代翻译起始位点,导致蛋白质缺乏 N 末端信号肽。这种缺乏信号肽的蛋白质仅比 ER 中的成熟蛋白质短 3 个氨基酸,被认为在胞质溶胶中具有管家功能。在大鼠中,该蛋白质通过羧基末端肽序列定位到 ER,通过氨基末端靶向信号定位到线粒体。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 3 月]

The protein encoded by this gene belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment found in the 5' UTR is involved in stress-dependent induction, resulting in the accumulation of this protein in the endoplasmic reticulum (ER) under hypoxic conditions. The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated Apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the N-terminal signal peptide. This signal peptide-lacking protein, which is only 3 Amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. In rat, this protein localizes to both the ER by a carboxy-terminal peptide sequence and to mitochondria by an amino-terminal targeting signal. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

HYOU1 基因产物(3)

mRNA Protein Name
NM_001130991.3 NP_001124463.1 hypoxia up-regulated protein 1 isoform 1 precursor
NM_001411041.1 NP_001397970.1 hypoxia up-regulated protein 1 isoform 2 precursor
NM_006389.5 NP_006380.1 hypoxia up-regulated protein 1 isoform 1 precursor

HYOU1 蛋白结构

HSP70

HSP70: Hsp70 protein (36 - 809)

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

hypoxia up-regulated protein 1

150 kDa oxygen-regulated protein

重组 HYOU1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70943 HYOU1 Protein, Human (HEK293, His) Q9Y4L1 (M695-L999) ≥95%

关联疾病

疾病名称 别名
Immunodeficiency 59 And Hypoglycemia

Granulocytopenia With Immunoglobulin Abnormality

IMD59

Immunodeficiency 59

Granulocytopenia With Immunoglobin Abnormality

B Cell And Dendritic Cell Deficiency
Dendritic Cell Deficiency
Granulocytopenia

Agranulocytosis

Hypoglycemia

Hypoglycaemia

Low Blood Sugar

Hypoglycaemia Nos

Spontaneous Hypoglycaemia

Nondiabetic Hypoglycaemia

Hypoglycaemic Disorder Nos

Hypoglycaemic Syndrome

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Marinesco-Sjogren Syndrome

Marinesco-Sjögren Syndrome

MSS

Marinesco-Garland Syndrome

Garland-Moorhouse Syndrome

Hereditary Oligophrenic Cerebello-Lental Degeneration

Oligophrenic Cerebellolenticular Degeneration

Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism

Marinesco-Sjogren Syndrome-Myopathy

Marinesco-Sjogren-Garland Syndrome

Marinesco-Sjoegren Syndrome

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
Canis familiaris HYOU1 VGNC VGNC:53417
Rattus norvegicus HYOU1 RGD RGD:621146
Mus musculus HYOU1 MGD MGI:108030
Macaca mulatta HYOU1 VGNC VGNC:73399
Felis catus HYOU1 VGNC VGNC:62861
Bos taurus HYOU1 VGNC VGNC:50032
Others HYOU1 NCBI