1. Gene
  2. STUB1 - STIP1 homology and U-box containing protein 1 Gene

STUB1 - STIP1 homology and U-box containing protein 1 Gene

中文名称:含 STIP1 同源性和 U-box 的蛋白 1

种属: Homo sapiens


基因 ID: 10273 | 基因类型: protein coding

关于 STUB1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:680,410-682,801 (from NCBI)

This gene has 11 transcripts (splice variants), 236 orthologues, 18 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 42.9), kidney (RPKM 39.1) and 25 other tissues.


该基因编码一种含有四肽重复序列的蛋白质和一个作为泛素连接酶/辅伴侣的 U 盒。编码的蛋白质结合并泛素化休克同源 71 kDa 蛋白质 (Hspa8) 和 DNA 聚合酶 beta (Polb) 以及其他目标。该基因的突变导致脊髓小脑性共济失调,常染色体隐性遗传 16。可变剪接导致多种转录本变异。该基因在 2 号染色体上有一个假基因。[RefSeq 提供,2014 年 6 月]

This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]

STUB1 基因产物(2)

mRNA Protein Name
NM_001293197.2 NP_001280126.1 E3 ubiquitin-protein ligase CHIP isoform b
NM_005861.4 NP_005852.2 E3 ubiquitin-protein ligase CHIP isoform a

STUB1 蛋白结构


TPR_11: TPR repeat (26 - 90)


TPR_1: Tetratricopeptide repeat (94 - 123)


U-box: U-box domain (227 - 299)

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

E3 ubiquitin-protein ligase CHIP

CLL-associated antigen KW-8

重组 STUB1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71340 STUB1 Protein, Human Q9UNE7 (M1-Y303) ≥95%


疾病名称 别名
Spinocerebellar Ataxia, Autosomal Recessive 16

Autosomal Recessive Spinocerebellar Ataxia 16


Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 16

Spinocerebellar Ataxia, Autosomal Recessive, 16

Ataxia, Spinocerebellar, Autosomal Recessive, Type 16

Spinocerebellar Ataxia 48


Cerebellar Ataxia Type 48


Gordon Holmes Syndrome

Cerebellar Ataxia And Hypogonadotropic Hypogonadism

Lhrh Deficiency And Ataxia

Cerebellar Ataxia-Hypogonadism Syndrome



Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia

Gordon-Holmes Syndrome

Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia

Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia

Cerebellar Ataxia - Hypogonadism

Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia

Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism

Spinocerebellar Ataxia 15


Spinocerebellar Ataxia Type 15

Spinocerebellar Ataxia Type 16


Spinocerebellar Ataxia Type 15/16

Spinocerebellar Ataxia 16, Formerly

Sca16, Formerly

Spinocerebellar Ataxia 16


Ataxia, Spinocerebellar, Type 15


Pulmonary Siderosis

Deposition Of Iron

Arc-Welders' Disease

Arc-Welders' Lung

Arc-Welders' Nodulation

Arc-Welders' Pneumoconiosis

Iron Oxide Lung

Iron Pneumoconiosis

Pneumoconiosis Siderotico

Siderotic Lung Disease

Steel Grinders' Disease

Welders' Lung

Welders' Siderosis

Lung Fibrosis With Siderosis

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon


Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease



Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease


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

Hematuria, Benign Familial

Benign Familial Hematuria


Thin Membrane Nephropathy


Thin Basement Membrane Nephropathy

Thin-Basement-Membrane Nephropathy

Hematuria, Familial Benign

Hematuria Benign Familial

Hematuria, Benign, Familial

Thin Basement Membrane Disease

Acute Tympanitis

Acute Myringitis

Spinal And Bulbar Muscular Atrophy, X-Linked 1

Kennedy Disease


Spinal And Bulbar Muscular Atrophy

Kennedy'S Disease

X-Linked Spinal And Bulbar Muscular Atrophy



Kennedy Spinal And Bulbar Muscular Atrophy

Spinobulbar Muscular Atrophy

Bulbospinal Muscular Atrophy, X-Linked

Bulbospinal Neuronopathy, X-Linked Recessive


Spinal And Bulbar Muscular Atrophy Of Kennedy

Bulbospinal Muscular Atrophy

X-Linked Bulbospinal Amyotrophy

Bulbo-Spinal Atrophy, X-Linked

Spinal Bulbar Muscular Atrophy

X-Linked Bulbo-Spinal Atrophy

X-Linked Spinal Bulbar Muscular Atrophy

X-Linked Bsma

X-Linked Bulbospinal Muscular Atrophy

Spinal And Bulbar Muscular Atrophy X-Linked 1

Bulbospinal Muscular Atrophy X-Linked

Bulbospinal Neuronopathy X-Linked Recessive

Kennedy Disease)

Kennedy Syndrome

Atrophy, Muscular, Spinal And Bulbar, Kennedy Type

Atrophy, Muscular, Spinobulbar

Bulbospinal Neuronopathy

Cystic Fibrosis



Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Spondylocostal Dysostosis 3, Autosomal Recessive


Spondylocostal Dysostosis, Autosomal Recessive 3

Spondylocostal Dysostosis 3

Autosomal Recessive Spondylocostal Dysostosis 3


Dysostosis, Spondylocostal, Autosomal Recessive, Type 3

Jarcho-Levin Syndrome


Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia


Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar


Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Myelodysplastic Syndrome

Myelodysplastic Syndromes



Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia


Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial


Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia


Primary Senile Degenerative Dementia


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


Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder


Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder



Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia


Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

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


种属 基因名 来源 基因 ID
Bos taurus STUB1 VGNC VGNC:58615
Rattus norvegicus STUB1 RGD RGD:1306167
Canis familiaris STUB1 VGNC VGNC:54073
Macaca mulatta STUB1 VGNC VGNC:99598
Felis catus STUB1 VGNC VGNC:65805
Mus musculus STUB1 MGD MGI:1891731