BCORL1 - BCL6 corepressor like 1 Gene

Also Known as SHUVER; BCoR-L1; CXorf10

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 63035

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
23523425 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCORL1 Protein Structure

Ank_2

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

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1711 a.a.
Protein Preferred Names Protein Names

BCL-6 corepressor-like protein 1

  • BCoR-like protein 1

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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