1. Gene
  2. BSPRY - B-box and SPRY domain containing Gene

BSPRY - B-box and SPRY domain containing Gene

中文名称:含 B-box 和 SPRY 结构域

种属: Homo sapiens

基因 ID: 54836 | 基因类型: protein coding

关于 BSPRY

Cytogenetic location: 9q32 Genomic coordinates (GRCh38): 9:113,349,541-113,371,222 (from NCBI)

This gene has 2 transcripts (splice variants), 119 orthologues and 80 paralogues. Broad expression in thyroid (RPKM 21.8), salivary gland (RPKM 19.5) and 16 other tissues.

功能概要

预测可启用泛素蛋白连接酶活性。预测参与蛋白质泛素化。预计在白血病抑制因子的细胞反应上游或细胞反应中起作用。预测位于小区前沿;膜;和细胞质的核周区。预计在细胞质中有活性。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable ubiquitin protein Ligase activity. Predicted to be involved in protein ubiquitination. Predicted to act upstream of or within cellular response to Leukemia Inhibitory Factor. Predicted to be located in cell leading edge; membrane; and perinuclear region of cytoplasm. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

BSPRY 基因产物(3)

mRNA Protein Name
NM_001317943.2 NP_001304872.1 B box and SPRY domain-containing protein isoform 1
NM_001317944.2 NP_001304873.1 B box and SPRY domain-containing protein isoform 3
NM_017688.3 NP_060158.2 B box and SPRY domain-containing protein isoform 2

BSPRY 蛋白结构

zf-B_box

zf-B_box: B-box zinc finger (20 - 57)

PRY

PRY: SPRY-associated domain (234 - 281)

SPRY

SPRY: SPRY domain (284 - 397)

  • 0
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  • 200
  • 300
  • 402 a.a.
蛋白主名 其他名称

B box and SPRY domain-containing protein

B-box and SPRY-domain containing protein

关联疾病

疾病名称 别名
Kleefstra Syndrome 1

9q Subtelomeric Deletion Syndrome

KLEFS1

Chromosome 9q34.3 Deletion Syndrome

9q- Syndrome

9q34 Deletion Syndrome

Kleefstra Syndrome Due To 9q34 Microdeletion

Kleefstra Syndrome

9q-Syndrome

9qstds

Kleefstra Syndrome Due To 9q Subtelomeric Deletion

Kleefstra Syndrome Due To Del(9)(Q34)

Kleefstra Syndrome Due To Monosomy 9q34

Chromosome 9q Subtelomeric Deletion Syndrome

Kleefstra Syndrome, Type 1

Parathyroid Adenoma

Adenoma Of Parathyroid

Adenoma Of The Parathyroid Gland

Parathyroid Gland Adenoma

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
Mus musculus BSPRY MGD MGI:2177191
Canis familiaris BSPRY VGNC VGNC:49718
Felis catus BSPRY VGNC VGNC:60190
Macaca mulatta BSPRY VGNC VGNC:70342
Rattus norvegicus BSPRY RGD RGD:708400
Bos taurus BSPRY VGNC VGNC:26580