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FLASH GENE

Symbol

FH

contributors: mct - updated : 08-10-2012

HGNC name	fumarate hydratase
HGNC id	3700

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FHD fumarate hydratase deficiency HLRCC hereditary leiomyomatosis MCUL1 multiple cutaneous and uterine leiomyomata
Location	1q43      Physical location : 241.660.856 - 241.683.085
Genatlas name	fumarase
Synonym name	leiomyomatosis and renal cell cancer
	multiple hereditary cutaneous leiomyomata
Synonym symbol(s)	FUMH, HLRCC, LRCC, MCL, MCUL1
EC.number	4.2.1.2

DNA

TYPE	functioning gene
STRUCTURE	22.23 kb     10 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

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_000143 10 - 1877 NP_000134 - 510 - 2006 16510303

EXPRESSION

Type	ubiquitous

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 liver         Endocrine parathyroid       highly Nervous brain         Reproductive male system prostate       Respiratory lung         Skin/Tegument skin       highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , tetramer

HOMOLOGY

interspecies

homolog to murine Fh1

Homologene

FAMILY

CATEGORY

enzyme , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus
text	cytosolic form of fumarase
	upon DNA damage the protein is transported from the cytosol to the nucleus, where by virtue of its enzymatic activity it participates in the DNA damage response

basic FUNCTION	catalyzing the seventh step of citric acid cycle
	participates in the Krebs cycle in mitochondria, as well as in regulation of cytosolic fumarate levels
	tumor suppressor functions of FH in sporadic kidney cancer
	participates in the tricarboxylic acid cycle in mitochondria which is essential for cellular respiration in eukaryotes
	in the cytoplasm, participate in the cellular response to DNA double strand breaks

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FHD , HLRCC , MCUL1

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral germinal mutation       in ovarian mucinous cystadenoma with uterine and skin leiomyomata and renal cell cancer tumoral germinal mutation     loss of function in hereditary leiomyomatosis and renal cell cancer (HLRCC) tumoral germinal mutation       in adult leydig cell tumors of the testis tumoral     --low   FH mRNA and protein expression are reduced in clear cell renal cancer, the most common histologic variant of kidney cancer, and reduced FH leads to the accumulation of HIF2A

Susceptibility

to uterine and skin leiomyomata to renal cell cancer

Variant & Polymorphism other	FH germline mutation associated to early onset uterine and skin leiomyomata and renal cell cancer

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS