1. Gene
  2. UBB - ubiquitin B Gene

UBB - ubiquitin B Gene

中文名称:泛素 B

种属: Homo sapiens

同用名: HEL-S-50

基因 ID: 7314 | 基因类型: protein coding

关于 UBB

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:16,380,779-16,382,745 (from NCBI)

This gene has 9 transcripts (splice variants), 101 orthologues, 10 paralogues and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 498.1), testis (RPKM 495.1) and 25 other tissues.

功能概要

该基因编码泛素,这是已知最保守的蛋白质之一。泛素在靶向细胞蛋白以被 26S 蛋白体降解方面起着重要作用。它还参与染色质结构的维持、基因表达的调节和应激反应。泛素被合成为前体蛋白,由多聚泛素链或与无关蛋白质融合的单个泛素部分组成。该基因由泛素编码序列的三个直接重复组成,没有间隔序列。因此,该蛋白质被表达为多聚泛素前体,在最后一次重复后具有最终氨基酸。已在阿尔茨海默病和唐氏综合症患者中检测到这种蛋白质的异常形式。该基因的假基因位于 1、2、13 和 17 号染色体上。可变剪接导致多个转录变体。[RefSeq 提供,2013 年 8 月]

This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. An aberrant form of this protein has been detected in patients with Alzheimer's disease and Down syndrome. Pseudogenes of this gene are located on chromosomes 1, 2, 13, and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

UBB 基因产物(6)

mRNA Protein Name
NM_001281716.2 NP_001268645.1 polyubiquitin-B precursor
NM_001281717.1 NP_001268646.1 polyubiquitin-B precursor
NM_001281718.1 NP_001268647.1 polyubiquitin-B precursor
NM_001281719.1 NP_001268648.1 polyubiquitin-B precursor
NM_001281720.2 NP_001268649.1 polyubiquitin-B precursor
NM_018955.4 NP_061828.1 polyubiquitin-B precursor
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 protein binding IPI
IPI: 通过物理相互作用推断
14755250 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
17571083 GOA
located in neuron projection IDA
IDA: 通过直接分析推断
17571083 GOA
located in neuronal cell body IDA
IDA: 通过直接分析推断
17571083 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

UBB 蛋白结构

ubiquitin

ubiquitin: Ubiquitin family (6 - 74)

ubiquitin

ubiquitin: Ubiquitin family (82 - 150)

ubiquitin

ubiquitin: Ubiquitin family (158 - 226)

  • 0
  • 100
  • 200
  • 229 a.a.
蛋白主名 其他名称

polyubiquitin-B

epididymis secretory protein Li 50

重组 UBB 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71101 UBB Protein, Human P0CG47 (M153-G228) ≥95%

关联疾病

疾病名称 别名
Cleft Hard Palate

Cleft Of Hard Palate

Hard Palate Perforation

Submucosal Cleft Palate
Cleft Soft Palate

Cleft Velum

Cleft Velum Palatinum

Soft Cleft Palate

Soft Palate Perforation

Uvula, Bifid

Bifid Uvula

Uvular Cleft

Uvula, Cleft

Bifidity Of The Uvula

Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

Middle East Respiratory Syndrome

Mers

Mers - [Middle East Respiratory Syndrome]

Myoclonic Epilepsy Of Lafora

Lafora Disease

Epilepsy, Progressive Myoclonic 2b

EPM2

Melf

Epilepsy, Progressive Myoclonic 2a

Epm2a

Lafora'S Disease

Lafora Body Disease

Lbd

Epilepsy, Progressive Myoclonic, 2a

Lafora Progressive Myoclonic Epilepsy

Epilepsy Progressive Myoclonic 2

Lafora Body Disorder

Pme Type 2

Progressive Myoclonic Epilepsy Type 2

Progressive Myoclonus Epilepsy Type 2

Epilepsy, Progressive Myoclonic 2

Epm2b

Ld

Progressive Myoclonic Epilepsy 2

Progressive Myoclonic Epilepsy 2a

Progressive Myoclonic Epilepsy 2b

Progressive Myoclonic Epilepsy Lafora Type

Epilepsy, Myoclonic, Of Lafora

Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p

Encephalopathy, Familial, With Neuroserpin Inclusion Bodies

Familial Encephalopathy With Neuroserpin Inclusion Bodies

FENIB

Encephalopathy, Familial, With Collins Bodies

Familial Dementia With Neuroserpin Inclusion Bodies

Familial Encephalopathy With Collins Bodies

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Pick Disease Of Brain

Pick Disease

Pick'S Disease

Pick Disease Of The Brain

Lobar Atrophy Of Brain

Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

Behavioral Variant Of Frontotemporal Dementia

Dementia In Pick'S Disease

Lobar Atrophy Of The Brain

Bvftd

Bv-Ftd

PIDB

Picks Disease

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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 UBB RGD RGD:621562
Macaca mulatta UBB VGNC VGNC:99329
Canis familiaris UBB VGNC VGNC:49664
Mus musculus UBB MGD MGI:98888
Bos taurus UBB VGNC VGNC:107281
Others UBB NCBI