2. Gene
  3. HNRNPU - heterogeneous nuclear ribonucleoprotein U Gene

HNRNPU - heterogeneous nuclear ribonucleoprotein U Gene

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

中文名称：异质性核糖核蛋白 U

种属: Homo sapiens

同用名: SAFA; DEE54; HNRPU; SAF-A; U21.1; pp120; EIEE54; GRIP120; hnRNP U; HNRNPU-AS1

基因 ID: 3192 | 基因类型: protein coding

关于 HNRNPU

Cytogenetic location: 1q44 Genomic coordinates (GRCh38): 1:244,850,297-244,864,543 (from NCBI)

This gene has 32 transcripts (splice variants), 231 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 31.0), lymph node (RPKM 28.0) and 25 other tissues.

功能概要

该基因编码一个蛋白质家族的成员，该蛋白质家族结合核酸并在细胞核中与异质核 RNA (hnRNA) 形成核糖核蛋白复合物。编码的蛋白质对 RNA 和 DNA 均具有亲和力，并结合支架附着区 (SAR) DNA。该基因的突变与 54 岁婴儿早期癫痫性脑病有关。已在 14 号染色体上鉴定出该基因的假基因。[RefSeq 提供，2017 年 6 月]

This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encoded protein has affinity for both RNA and DNA, and binds scaffold-attached region (SAR) DNA. Mutations in this gene have been associated with epileptic encephalopathy, early infantile, 54. A pseudogene of this gene has been identified on chromosome 14. [provided by RefSeq, Jun 2017]

HNRNPU 基因产物(2)

mRNA Protein Name
NM_004501.3 NP_004492.2 heterogeneous nuclear ribonucleoprotein U isoform b
NM_031844.3 NP_114032.2 heterogeneous nuclear ribonucleoprotein U isoform a
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 ATP binding IDA
IDA: 通过直接分析推断
28622508 GOA
enables DNA binding IDA
IDA: 通过直接分析推断
9204873 GOA
enables RNA binding IDA
IDA: 通过直接分析推断
23811339 GOA
enables RNA binding IPI
IPI: 通过物理相互作用推断
18082603 GOA
enables RNA polymerase II complex binding IDA
IDA: 通过直接分析推断
10490622 GOA
enables TFIIH-class transcription factor complex binding IDA
IDA: 通过直接分析推断
10490622 GOA
enables actin binding IDA
IDA: 通过直接分析推断
15711563 GOA
enables chromatin DNA binding IDA
IDA: 通过直接分析推断
11003645 GOA
enables chromatin binding IDA
IDA: 通过直接分析推断
9405365 GOA
enables double-stranded DNA binding IDA
IDA: 通过直接分析推断
8068679 GOA
enables double-stranded RNA binding IDA
IDA: 通过直接分析推断
8174554 GOA
enables identical protein binding IDA
IDA: 通过直接分析推断
28622508 GOA
enables mRNA 3'-UTR binding IDA
IDA: 通过直接分析推断
17174306 GOA
enables piRNA binding IPI
IPI: 通过物理相互作用推断
37332045 GOA
enables poly(A) binding IDA
IDA: 通过直接分析推断
8174554 GOA
enables poly(C) RNA binding IDA
IDA: 通过直接分析推断
8174554 GOA
enables poly(G) binding IDA
IDA: 通过直接分析推断
8174554 GOA
enables pre-mRNA binding IDA
IDA: 通过直接分析推断
22325991 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
7753047 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
19617346 GOA
enables ribonucleoprotein complex binding IDA
IDA: 通过直接分析推断
19617346 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
9405365 GOA
enables single-stranded DNA binding IDA
IDA: 通过直接分析推断
1628625 GOA
enables single-stranded RNA binding IDA
IDA: 通过直接分析推断
1628625 GOA
enables snRNA binding IDA
IDA: 通过直接分析推断
22325991 GOA
enables telomerase RNA binding IPI
IPI: 通过物理相互作用推断
18082603 GOA
enables transcription corepressor activity IMP
IMP: 通过突变表型推断
19617346 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in CRD-mediated mRNA stabilization IDA
IDA: 通过直接分析推断
19029303 GOA
involved in CRD-mediated mRNA stabilization IMP
IMP: 通过突变表型推断
19029303 GOA
involved in cellular response to glucocorticoid stimulus IDA
IDA: 通过直接分析推断
9353307 GOA
involved in mRNA stabilization IDA
IDA: 通过直接分析推断
17174306 GOA
involved in maintenance of protein location in nucleus IMP
IMP: 通过突变表型推断
19617346 GOA
involved in negative regulation of kinase activity IMP
IMP: 通过突变表型推断
10490622 GOA
involved in negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay IDA
IDA: 通过直接分析推断
19029303 GOA
involved in negative regulation of stem cell differentiation IMP
IMP: 通过突变表型推断
21235343 GOA
involved in negative regulation of telomere maintenance via telomerase IMP
IMP: 通过突变表型推断
18082603 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
9353307 GOA
involved in negative regulation of transcription elongation by RNA polymerase II IMP
IMP: 通过突变表型推断
10490622 GOA
involved in positive regulation of attachment of mitotic spindle microtubules to kinetochore IMP
IMP: 通过突变表型推断
21242313 GOA
involved in positive regulation of cytoplasmic translation IDA
IDA: 通过直接分析推断
19029303 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
15711563 GOA
involved in protein localization to spindle microtubule IMP
IMP: 通过突变表型推断
21242313 GOA
involved in random inactivation of X chromosome IDA
IDA: 通过直接分析推断
25843628 GOA
involved in regulation of alternative mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
22325991 GOA
involved in regulation of chromatin organization IMP
IMP: 通过突变表型推断
28622508 GOA
involved in regulation of mitotic cell cycle IMP
IMP: 通过突变表型推断
25986610 GOA
involved in regulation of mitotic spindle assembly IMP
IMP: 通过突变表型推断
21242313 GOA
involved in regulatory ncRNA-mediated heterochromatin formation IMP
IMP: 通过突变表型推断
25843628 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of CRD-mediated mRNA stability complex IDA
IDA: 通过直接分析推断
19029303 GOA
part of CRD-mediated mRNA stability complex IPI
IPI: 通过物理相互作用推断
19029303 GOA
part of RNA polymerase II transcription regulator complex IDA
IDA: 通过直接分析推断
10490622 GOA
part of catalytic step 2 spliceosome IDA
IDA: 通过直接分析推断
11991638 GOA
located in cell surface IDA
IDA: 通过直接分析推断
7993898 GOA
located in centrosome IDA
IDA: 通过直接分析推断
25986610 GOA
located in cytoplasmic ribonucleoprotein granule IDA
IDA: 通过直接分析推断
15121898 GOA
located in cytosol IDA
IDA: 通过直接分析推断
19029303 GOA
located in inactive sex chromosome IDA
IDA: 通过直接分析推断
14608463 GOA
located in kinetochore IDA
IDA: 通过直接分析推断
21242313 GOA
located in midbody IDA
IDA: 通过直接分析推断
25986610 GOA
located in mitotic spindle IDA
IDA: 通过直接分析推断
21242313 GOA
located in mitotic spindle microtubule IDA
IDA: 通过直接分析推断
21242313 GOA
located in mitotic spindle midzone IDA
IDA: 通过直接分析推断
21242313 GOA
located in nuclear chromosome IDA
IDA: 通过直接分析推断
11003645 GOA
located in nuclear matrix IDA
IDA: 通过直接分析推断
8174554 GOA
located in nuclear speck IDA
IDA: 通过直接分析推断
9353307 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
28221134 GOA
located in nucleus IDA
IDA: 通过直接分析推断
9353307 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
8174554 GOA
part of ribonucleoprotein complex IDA
IDA: 通过直接分析推断
9405365 GOA
part of telomerase holoenzyme complex IDA
IDA: 通过直接分析推断
18082603 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

HNRNPU 蛋白结构

SAP

SAP: SAP domain (9 - 42)

SPRY

SPRY: SPRY domain (332 - 462)

AAA_33

AAA_33: AAA domain (499 - 643)

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

heterogeneous nuclear ribonucleoprotein U

HNRNPU antisense RNA 1

HNRNPU 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra HNRNPU Q00839 BRIX1 Homo sapiens Q8TDN6
Anti Tag CoIP
26496610
Intra HNRNPU Q00839 HNRNPD Homo sapiens Q14103
Crosslink
30021884
Intra HNRNPU Q00839 HNRNPD Homo sapiens Q14103
Y2H
22365833
Intra HNRNPU Q00839 HNRNPD Homo sapiens Q14103
Anti Tag CoIP
35271311
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 54

DEE54

Epileptic Encephalopathy, Early Infantile, 54

Eiee54

Developmental And Epileptic Encephalopathy, 54

Early Infantile Epileptic Encephalopathy 54

Encephalopathy, Epileptic, Early Infantile, Type 54
1q44 Microdeletion Syndrome

Del(1)(Q44)

Monosomy 1q44

Chromosome 1q44 Microdeletion Syndrome
Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

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
Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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-RS06278 HNRNPU Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus HNRNPU MGD MGI:1858195
Rattus norvegicus HNRNPU RGD RGD:620372
Macaca mulatta HNRNPU VGNC VGNC:73500
Felis catus HNRNPU VGNC VGNC:67613
Bos taurus HNRNPU VGNC VGNC:50193
Canis familiaris HNRNPU VGNC VGNC:53492
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