2. Gene
  3. UBAP1 - ubiquitin associated protein 1 Gene

UBAP1 - ubiquitin associated protein 1 Gene

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

中文名称：泛素相关蛋白 1

种属: Homo sapiens

同用名: UAP; UBAP; NAG20; SPG80; UBAP-1

基因 ID: 51271 | 基因类型: protein coding

关于 UBAP1

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:34,179,005-34,252,523 (from NCBI)

This gene has 5 transcripts (splice variants), 212 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 39.6), testis (RPKM 26.3) and 25 other tissues.

功能概要

该基因是 UBA 结构域家族的成员，其成员包括与泛素和泛素化途径相关的蛋白质。泛素相关结构域被认为是由紧凑的三螺旋束组成的非共价泛素结合结构域。这种特殊的蛋白质起源于鼻咽癌 (NPC) 中发生杂合性缺失的 9 号染色体精细区域中的基因位点。考虑到其细胞遗传学位置，该 UBA 结构域家族成员正在作为鼻咽癌突变的推定靶标进行研究。已为该基因发现编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供，2010 年 1 月]

This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

UBAP1 基因产物(5)

mRNA Protein Name
NM_001171201.1 NP_001164672.1 ubiquitin-associated protein 1 isoform 2
NM_001171202.1 NP_001164673.1 ubiquitin-associated protein 1 isoform 3
NM_001171203.3 NP_001164674.1 ubiquitin-associated protein 1 isoform 1
NM_001171204.3 NP_001164675.1 ubiquitin-associated protein 1 isoform 1
NM_016525.5 NP_057609.2 ubiquitin-associated protein 1 isoform 1
蛋白主名 其他名称

ubiquitin-associated protein 1

nasopharyngeal carcinoma-associated gene 20 protein

重组 UBAP1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71396 UBAP1 Protein, Human (His) Q9NZ09 (M1-S502) ≥95%

关联疾病

疾病名称 别名
Spastic Paraplegia 80, Autosomal Dominant

SPG80

Hereditary Spastic Paraplegia 80

Spastic Paraplegia 80 Autosomal Dominant

Doid:0112341
Spastic Paraplegia 12, Autosomal Dominant

SPG12

Hereditary Spastic Paraplegia 12

Autosomal Dominant Spastic Paraplegia Type 12

Autosomal Dominant Spastic Paraplegia 12

Spastic Paraplegia 12

Spastic Paraplegia-12

Paraplegia, Spastic, Autosomal Dominant, Type 12
Nasopharyngeal Carcinoma

Malignant Neoplasm Of Nasopharynx

Npc

Nasopharyngeal Cancer

Nasopharyngeal Carcinoma 1

Nasopharynx Carcinoma

Nasopharyngeal Neoplasms

Npca

Carcinoma Of Nasopharynx

Malignant Nasopharyngeal Tumor

Nasopharynx Cancer

Squamous Cell Carcinoma Of The Nasopharynx

Nasopharyngeal Neoplasm

Cancer Of Nasopharynx
Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Spastic Paraplegia 83, Autosomal Recessive

SPG83

Hereditary Spastic Paraplegia 83

Spastic Paraplegia 83 Autosomal Recessive

Doid:0112346

Paraplegia, Spastic, Type 83, Autosomal Recessive
Spastic Paraplegia 81, Autosomal Recessive

SPG81

Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction

Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction

Hereditary Spastic Paraplegia 81

Spastic Paraplegia 81 Autosomal Recessive

Doid:0112349
Spastic Paraplegia 82, Autosomal Recessive

SPG82

Hereditary Spastic Paraplegia 82

Spastic Paraplegia 82 Autosomal Recessive

Doid:0112343
Spastic Paraplegia 79, Autosomal Recessive

Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome

SPG79

Neurodegeneration With Optic Atrophy, Childhood-Onset

Ndgoa

Hereditary Spastic Paraplegia 79

Spastic Paraplegia 79 Autosomal Recessive

Doid:0112344

Neurodegeneration, With Optic Atrophy, Childhood-Onset
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
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-RS15328 UBAP1 Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus UBAP1 MGD MGI:2149543
Felis catus UBAP1 VGNC VGNC:97677
Bos taurus UBAP1 VGNC VGNC:36571
Macaca mulatta UBAP1 VGNC VGNC:78686
Rattus norvegicus UBAP1 RGD RGD:1305186
Others UBAP1 NCBI
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