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  2. BCORL1 - BCL6 corepressor like 1 Gene

BCORL1 - BCL6 corepressor like 1 Gene

中文名称:BCL6 核心阻遏物 1

种属: Homo sapiens

同用名: SHUVER; BCoR-L1; CXorf10

基因 ID: 63035 | 基因类型: protein coding

关于 BCORL1

Cytogenetic location: Xq26.1 Genomic coordinates (GRCh38): X:129,980,313-130,058,071 (from NCBI)

This gene has 5 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 104 phenotypes. Broad expression in placenta (RPKM 4.2), testis (RPKM 3.4) and 25 other tissues.

功能概要

由该基因编码的蛋白质是一种转录辅阻遏物,被发现通过 DNA 结合蛋白与启动子区域相连。编码的蛋白质可以与几种不同的 II 类组蛋白脱乙酰酶相互作用以抑制转录。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2010 年 5 月]

The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

BCORL1 基因产物(4)

mRNA Protein Name
NM_001184772.3 NP_001171701.1 BCL-6 corepressor-like protein 1 isoform 1a
NM_001379450.1 NP_001366379.1 BCL-6 corepressor-like protein 1 isoform 1a
NM_001379451.1 NP_001366380.1 BCL-6 corepressor-like protein 1 isoform 1a
NM_021946.5 NP_068765.3 BCL-6 corepressor-like protein 1 isoform 1
基因本体论
  • 分子功能
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
23523425 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

BCORL1 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1433 - 1517)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1711 a.a.
蛋白主名 其他名称

BCL-6 corepressor-like protein 1

BCoR-like protein 1

关联疾病

疾病名称 别名
Shukla-Vernon Syndrome

SHUVER

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Acute Myeloid Leukemia With Bcr-Abl1

Acute Myeleoid Leukemia With Bcr-Abl1

Mixed Lacrimal Gland Cancer

Carcinoma Ex Pleomorphic Adenoma Of Lacrimal Gland

Carcinoma Ex Pleomorphic Adenoma Of The Lacrimal Gland

Malignant Mixed Neoplasm Of Lacrimal Gland

Plasma Cell Neoplasm

Plasma Cell Dyscrasia

Paraproteinemias

Plasma Cell Tumour

Plasmacytic Tumor

Multiple Myeloma

Plasmacytoma

Plasma Cell Tumours

Plasma Cells Dyscrasia

Learning Disability

Learning Disabilities

Learning Disorders

Academic Skill Disorder

Learning Disorder

Uruguay Faciocardiomusculoskeletal Syndrome

FCMSU

Faciocardiomusculoskeletal Syndrome, Uruguay Type

Fcms

Musculoskeletal Diseases

Myeloma, Multiple

Multiple Myeloma

Plasma Cell Myeloma

Kahler Disease

Myelomatosis

Medullary Plasmacytoma

Multiple Myeloma, Resistance To

Myeloma

Plasma Cell Dyscrasia

Kahler'S Disease

Multiple Myeloma, Susceptibility To

Myeloma - Multiple

Kahler-Bozzolo Disease

Plasma Cell Myelomas

MM

Plasma Cell Neoplasm

Primary Systemic Amyloidosis

Primary Amyloidosis

Immunoglobulin Deposition Disease

Plasmacytic Myeloma

Multiple Myelomata

Multiple Myeloma Nos

Multiple Myeloma Without Mention Of Remission

Monostotic Plasma Cell Myeloma

Mm - [Multiple Myeloma]

Ossifying Fibromyxoid Tumor

Ossifying Fibromyxoid Tumour

Ossifying Fibromyxoma

Myxoid Leiomyosarcoma

Leiomyosarcoma, Myxoid

Polymicrogyria

Pmg

Endometrial Stromal Tumor

Endometrial Stromal Neoplasm

Endometrial Stromal Tumors

Microphthalmia, Syndromic 2

Oculofaciocardiodental Syndrome

Ofcd Syndrome

MCOPS2

Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects

Syndromic Microphthalmia 2

Anop2

Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome

Maa2

Microphthalmia Cataracts Radiculomegaly And Septal Heart Defects

Syndromic Microphthalmia Type 2

Oculo-Facio-Cardio-Dental Syndrome

Anop2, Formerly

Maa2, Formerly

Microphthalmia Syndromic 2

Oculo Facio Cardio Dental Syndrome

Microphthalmia, Syndromic, 2

Marashi-Gorlin Syndrome

Microphthalmia, Cataracts, Radiculomegaly And Septal Heart Defects

Microphthalmia, Syndromic, Type 2

Astroblastoma

Cerebral Astroblastoma

Endometrial Stromal Sarcoma

Ess

Endometrial Stromal Sarcoma, High Grade

Undifferentiated Endometrial Sarcoma

Stromal Sarcoma Of The Corpus Uteri

Sarcoma Endometrial Stromal

Sarcoma, Endometrial Stromal

Undifferentiated Stromal Sarcoma

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus BCORL1 VGNC VGNC:26455
Macaca mulatta BCORL1 VGNC VGNC:70131
Rattus norvegicus BCORL1 RGD RGD:1566108
Felis catus BCORL1 VGNC VGNC:60093
Mus musculus BCORL1 MGD MGI:2443910
Canis familiaris BCORL1 VGNC VGNC:38419
Others BCORL1 NCBI