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FLASH GENE

Symbol

MXD1

contributors: mct/npt/pgu - updated : 09-09-2009

HGNC name	MAX dimerization protein 1
HGNC id	6761

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2p14      Physical location : 70.142.202 - 70.170.074
Synonym name	MAD protein (MAX-binding protein)
	MAX dimerizer
Synonym symbol(s)	MAD, MAD1, MGC104659

DNA

TYPE	functioning gene
STRUCTURE	27.87 kb     6 Exon(s)

regulatory sequence	Promoter (CAAT box)
text structure	two CCAAT-boxes occupied by C/EBPalpha and beta in the homology region that mediate responsiveness to G-CSF receptor signaling

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_002357 6 - 5587 NP_002348 25 221 - 1994 7829091

EXPRESSION

Type

constitutive of

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 Digestive esophagus       highly   intestine       highly   mouth tongue     highly   pharynx       highly Endocrine parathyroid       highly Lymphoid/Immune thymus       predominantly Reproductive male system prostate       Respiratory lung       moderately   respiratory tract larynx         respiratory tract trachea     moderately Visual eye       moderately

cell lineage
cell lines
fluid/secretion	highly in blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a basic helix-loop-helix (bHLH) motif
	a nuclear localization signal

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	homolog to rattus Mxd1 (89.6 pc)
	homolog to murine Mxd1 (89 pc)

Homologene

FAMILY

subfamily of MAX-interacting proteins

CATEGORY

transcription factor , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	acting as a transcriptional repressor
	antagonizing MYC transcriptional activity through interaction with the N-COR/SIN3/HDAC corepressor complex (by the recruitment of opposing chromatin remodeling activities compared to Myc)
	inhibiting apoptosis via downregulation of PTEN expression
	interacts with NEK2 at the kinetochore and possibly functions as a novel integrator of spindle checkpoint signaling
	key role for the MYC-MAX-MXD1 network in the development and progression of neural crest tumors

CELLULAR PROCESS	cell life, proliferation/growth
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

text	multicellular organismal development

PATHWAY

metabolism

signaling

a component	forming a sequence-specific DNA-binding complex with MAX
	part of the MYC-MAX-MXD1 network

INTERACTION

DNA	binding the enhancer box (E box) hexanucleotide (5-prime-CACGTG-3-prime) when heterodimerized with MAX

RNA

small molecule

protein	Max heterodimeric partner
	TERT telomerase reverse transcriptase

cell & other

REGULATION

induced by

CSF3

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS