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FLASH GENE

Symbol

GABPB1

contributors: mct - updated : 02-06-2015

HGNC name	GA binding protein transcription factor, beta subunit 1
HGNC id	4074

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	15q21.2      Physical location : 50.569.389 - 50.647.605
Synonym name	nuclear respiratory factor-2 subunit beta
	adenovirus E4 gene transcription factor-1
	GA binding protein transcription factor, beta subunit 1, 53kDa
	GA binding protein transcription factor, beta subunit 2, 47kDa
Synonym symbol(s)	E4TF1, GABPB, E4TF1-47, E4TF1-53, BABPB2, E4TF1B, GABPB-1, GABPB-2, GABPB2, NRF2B1, NRF2B2

DNA

TYPE	functioning gene
STRUCTURE	78.00 kb     12 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D15S123 - D15S119 - D15S126 - GALK2 - DUT - GABPB2 - D15S161 - MYO5A - CYP19A1 - D15S121 - D15S998 - D15S117 - qter
Authors	Gene Map (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant gamma 1 8 splicing 1658 38 360 - Gugneja, Rosmarin (2003) using an alternate in-frame splice site in the 3' coding region compared to variant beta 1 variant gamma 2 8 splicing 1622 36.8 348 - Gugneja, Rosmarin (2003) containing multiple differences compared to variant beta 1 lacking a 12-amino acid serine-rich region compared to isoform beta 1 encoding the same protein than variant gamma 3, differing in the 5' UTR variant beta 1 9 splicing 3069 42.4 395 - Gugneja, Rosmarin (2003) variant beta 2 9 splicing 3033 41.2 383 - Gugneja, Rosmarin (2003) lacking an alternate in-frame segment compared to variant beta 1 lacking a 12-amino acid serine-rich region compared to isoform beta 1 variant gamma 3 9 splicing 1646 36.8 348 - Gugneja containing multiple differences compared to variant beta 1 lacking a 12-amino acid serine-rich region compared to variant beta 1 encoding the same protein than variant gamma 2, differing in the 5' UTR

EXPRESSION

Type

widely

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 vessel       highly Endocrine neuroendocrine pituitary     moderately Lymphoid/Immune lymph node       predominantly Reproductive female system uterus cervix   moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Connective bone     moderately

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four tandemly repeated NOTCH motifs at the C terminus
	a C terminus ETS DNA-binding domain
	five ankyrin (ANK) repeats

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies	homolog to rattus Gabpb1 (98.6 pc)
	homolog to murine Gabpb1 (98.2 pc)

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	putatively involved in the activation of nuclear genes specifying mitochondrial function
	being necessary for the expression of the Adenovirus E4 gene
	GABPB1, GABPB2, GAPBA controls a critical transcription regulatory module that is essential for maintenance and differentiation of hematopoietic stem/progenitor cells

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component with GABPA alpha2/beta2 of an heterotetramer nuclear respiratory factor 2

INTERACTION

DNA	interacting with purine rich repeats (GA repeats)

RNA

small molecule

protein	GABPA
	NRF2 (E4F1) regulating STK6
	recognizing an important site for herpes virus type I activation
	interacting with HCFC1, causing repression of transcriptional activity
	binding to GAPBA (through a DNA binding domain that binds to N-terminal ankyrin-like repeats of GABPB1 and GABPB2)
	PRKD2 is a functionally significant mediator of the effect of GABPA, GABPB1, GABPB2 on proliferation and apoptosis of BCR-ABL–expressing cells
	SIRT7 is a dynamic nuclear regulator of mitochondrial function through its impact on GABPB1 function

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS