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FLASH GENE

Symbol

SLC25A38

contributors: mct/npt - updated : 02-11-2020

HGNC name	solute carrier family 25, member 38
HGNC id	26054

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ASPR sideroblastic anemia, pyridoxine-refractory
Location	3p22.1      Physical location : 39.424.814 - 39.438.819
Synonym name	appoptosin
	mitochondrial glycine transporter GlyC
Synonym symbol(s)	FLJ20551, FLJ22703, SIDBA2

DNA

TYPE	functioning gene
STRUCTURE	14.01 kb     7 Exon(s)

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_017875 7 - 2124 NP_060345 - 304 - 2016 27476175 NM_001354798 6 - 1934 NP_001341727 - 237 - 2016 27476175

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 Cardiovascular heart       highly Digestive intestine small intestine     highly Lymphoid/Immune thymus       highly Nervous brain       highly Reproductive female system uterus cervix   highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erythroblast

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal mitochondrial targeting signal
	six transmembrane helices
	four EF-hand domains
	three solcar repeats

HOMOLOGY

interspecies

homolog to yeast Hem25

Homologene

FAMILY

mitochondrial carrier family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION	calcium-dependent mitochondrial solute carrier
	erythroid specific mitochondrial carrier, important for the biosynthesis of heme in eukaryotes (Guernsey 2009)
	may be facilitates ALA production by importing glycine into mitochondria or by exchanging glycine for ALA across the mitochondrial inner membrane (Guernsey 2009)
	is a pro-apoptotic protein, which regulates intrinsic caspase-dependent apoptosis
	main mitochondrial glycine transporters required for heme synthesis
	mitochondrial glycine transporter that provides substrate to initiate heme/hemoglobin synthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

can interact with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ASPR

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer hemopathy   potential therapeutic target for ALL

ANIMAL & CELL MODELS