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FLASH GENE

Symbol

TMEFF1

contributors: mct - updated : 06-02-2024

HGNC name	transmembrane protein with EGF-like and two follistatin-like domains 1
HGNC id	11866

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	104.40 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003692 10 - 2501 NP_003683 40.8 380 - 2011 21393249 NM_001198812 9 - 2434 - 454 - 2011 21393249

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 ventricle       Homo sapiens Nervous brain       predominantly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac myocardium highly Homo sapiens Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	putative extracellular domain
	signal peptide
	EGF like domains
	a serine protease domain (Kazal type)
	a transmembrane region
	two potential glycosaminoglycan attachment sites
	two follistatin-like and an epidermal growth factor-like domain, participating in nodal and bone morphogenetic protein signaling

HOMOLOGY

interspecies

homolog to murine Tmeff1

Homologene

FAMILY

tomoregulin family

CATEGORY

tumor suppressor

SUBCELLULAR LOCALIZATION	plasma membrane
text	expressed on the cell membrane
	predominantly redistributed to the endoplasmic reticulum (ER) when coexpressed with addicsin (ARL6IP5)

basic FUNCTION	potential role for TMEFF1 in growth factor signaling (
	may behave as a tumor suppressor gene in brain cancers
	inhibits NODAL signaling through direct binding to the nodal coreceptor Cripto
	having different activities depending on the presence of the cytoplasmic tail and its anchorage to the membrane
	TMEFF1 and TMEFF2 could be playing similar roles in different tissues and/or developmental stages
	is a growth factor that is primarily involved in embryonic development and adult central nervous system (CNS) function
	is a carcinogenic gene in ovarian cancer and can be regulated by TP53 transcription
	involved in the physiological functions of the central nervous system, embryonic development, and other biological processes
	acts as a tumor-promoting gene in ovarian cancer

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binds to the NODAL coreceptor CRIPTO, but does not associate with either NODAL or the type I ALK (activin receptor-like kinase) 4 receptor
	tomoregulin-1 (TMEFF1) is a novel addicsin (ARL6IP5)-associated factor
	ARL6IP5 in the ER controls intracellular TMEFF1 trafficking from the ER to plasma membrane and regulates cell migration through its interaction with TMEFF1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   lower levels of TMEFF1 expression in brain tumors than normal brain tissue tumoral     --over   in ovarian cancer cells induced increased cellular proliferation, migration, and invasion but reduced apoptosis tumoral     --over   of ANHAK and TMEFF1 in ovarian cancer indicated a higher degree of tumor malignancy and a worse prognosis

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive ovary may be considered as a potential therapeutic target for ovarian cancer cardiovascular cardiomyopathy   could be a therapeutic target to control the development of cardiac hypertrophy cancer reproductive ovary the interaction between AHNAK and TMEFF1 may become a potential anti-tumor target for ovarian cancer treatment

ANIMAL & CELL MODELS

	plays a protective role in the modulation of adverse cardiac remodeling from pressure overload in mice
	high Tgfb1 doses increased tomoregulin-1 (Tmeff1) levels, resulting in the repression of Bmp2 and bone formation in mice