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FLASH GENE

Symbol

BCORL1

contributors: mct - updated : 17-03-2021

HGNC name	BCL6 co-repressor-like 1
HGNC id	25657

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IDBDD intellectual disability, behavioral difficulties, and dysmorphic features
Location	Xq26.1      Physical location : 129.139.163 - 129.192.058
Synonym name	chromosome X open reading frame 10
Synonym symbol(s)	CXorf10, FLJ11362, FLJ11632, B930011H20Rik, CXorf10, SHUVER

DNA

TYPE	functioning gene
STRUCTURE	77.80 kb     13 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_021946 13 splicing 7243 NP_068765 182.4 1711 - 2020 32594217 NM_001184772 15 splicing 7772 NP_001171701 190.6 1785 - 2020 32594217 NM_001379450 14 - 7593 NP_001366379 - 1785 - 2020 32594217 NM_001379451 14 - 7465 NP_001366380 - 1785 - 2020 32594217

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Endocrine thyroid       moderately Lymphoid/Immune lymph node       moderately Nervous nerve       moderately Reproductive female system placenta     highly Respiratory respiratory tract larynx

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	highly in placenta, predominantly in umbilical cord

IMPRINTING
text	subject to X inactivation

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a nuclear localization signal
	three ANK repeats

HOMOLOGY

interspecies	homolog to rattus Bcorl1 (91.5 pc)
	homolog to murine Bcorl1 (89.7 pc)

intraspecies

homolog to BCOR

Homologene

FAMILY

BCOR family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,nucleus,nucleoplasm

basic FUNCTION	acting as a transcriptional corepressor
	may specifically inhibit gene expression when recruited to promoter regions by sequence specific DNA-binding proteins such as BCL6
	associated with histone deacetylase (HDAC) activity
	transcriptional corepressor, involved in negative gene regulation through associations with several protein complexes including Class II histone deacetylases (HDACs)
	is contributor to spermatogenesis

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with CTBP1
	interacting with HDAC4, HDAC5 and HDAC7

cell & other

REGULATION

Other

phosphorylated upon DNA damage, probably by ATM or ATR

ASSOCIATED DISORDERS

corresponding disease(s)

IDBDD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   decrease with age, and age-associated BCORL1 down-regulation might potentially contribute to age-related epigenetic alterations and form a predisposing condition for the development of elderly AML

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Bcorl1 knockout mice were infertile with impaired spermatogenesis