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FLASH GENE

Symbol

SGMS1

contributors: mct/npt/pgu - updated : 06-07-2014

HGNC name	sphingomyelin synthase 1
HGNC id	29799

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	318.39 kb     11 Exon(s)

regulatory sequence	alternative promoter
text structure	two transcription initiation sites
	two alternative promoters

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	in the cerebellum, multiple alternatively spliced products of MOB differing in their coding portion (Vladychenskaya) one of the alternative transcripts was demonstrated to lack the longest coding exon VII two transcription initiation sites

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_147156 11 - 3767 NP_671512 48 413 - 22209789 2011

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 Digestive mouth tongue     moderately Hearing/Equilibrium ear       highly Lymphoid/Immune lymph node       specific   spleen       moderately Nervous brain       predominantly   nerve       highly Respiratory respiratory tract larynx     highly   respiratory tract trachea     predominantly Urinary kidney       predominantly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a sterile alpha motif (SAM) domain near the N-terminal region
	four predicted transmembrane domains

HOMOLOGY

interspecies	homolog to rattus Tmem23 (97.3 pc)
	homolog to murine Sgms1 (97.8 pc)

Homologene

FAMILY

sphingomyelin synthase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,nucleus
text	being a five-pass transmembrane protein
	exclusively localized to the Golgi apparatus (Golgi trans cisterna)
	localizes at the Golgi

basic FUNCTION	acting as a bidirectional lipid cholinephosphotransferases capable of converting phosphatidylcholine (PC) and ceramide to sphingomyelin (SM) and diacylglycerol (DAG) and vice versa
	playing a kinase role
	being responsible for sphyngomyelin synthase activity in mammalian cells
	suppressing BAX-mediated apoptosis
	preventing cell death in response to stimuli such as hydrogen peroxide, osmotic stress, elevated temperature and exogenously supplied sphingolipids
	SGMS1, SGMS2 are capable of regulating the formation of DAG in cells, this pool of DAG is biologically active, and SGMS1 and SGMS2 are directly implicated as regulators of DAG-binding proteins in the Golgi apparatus
	may protect against cell death by reversing the stress-inducible increase in levels of proapoptotic ceramide
	required for cell growth
	SGMS1-generated sphingomyelin plays an important role in transferrin trafficking and cell proliferation
	SGMS1 and SGMS2 are capable of regulating trans golgi network-mediated protein trafficking and secretion, functions that are compatible with PKD being a down-stream target for SGMSs in the Golgi
	SGMS1 and SGMS2 play distinct roles in regulating local SM (Sphingomyelin)clustering

CELLULAR PROCESS	cell life, proliferation/growth
	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

sphingolipid metabolism

a component

INTERACTION

DNA

RNA

small molecule

protein

SGMS1 positively regulates KCNQ1/KCNE1 channel density in a protein kinase D-dependent manner

cell & other

REGULATION

inhibited by

bacterial PC-phospholipase C inhibitor D609

Other

regulation of SGMS1 expression is complex and occurs at the transcriptional, post-transcriptional and translational levels

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS