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FLASH GENE

Symbol

SLMAP

contributors: mct/npt - updated : 14-02-2019

HGNC name	sarcolemma associated protein
HGNC id	16643

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	173.78 kb     21 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 SLAP1 - splicing 1330 37 322 cardiac soleus, smooth muscle 2015 25880194 SLAP2 - splicing 1570 46 452 cardiac, soleus and smooth muscle 2015 25880194 NM_001304423 8 splicing 3807 NP_001291352 - 296 2015 25880194 NM_001304420 22 - 5523 NP_001291349 - 828 - 2015 25880194 NM_001304421 20 - 5409 NP_001291350 - 790 - 2015 25880194 NM_001304422 10 - 4005 NP_001291351 - 362 - 2015 25880194 NM_001311178 11 - 4095 NP_001298107 - 359 - 2015 25880194 NM_001311179 7 - 2436 NP_001298108 - 271 - 2015 25880194 NM_007159 21 - 5472 NP_009090 - 811 - 2015 25880194

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 Endocrine parathyroid       highly Respiratory respiratory tract trachea     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth       Muscular striatum cardiac

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		acid		Amphiphilic
STRUCTURE

motifs/domains	a previously uncharacterized N-terminal sequence encompassing a forkhead-associated (FHA) domain that resides at the centrosome
	putative transmembrane domain at the C terminus, unique C-terminal membrane anchors that could target this molecule to distinct subcellular membranes
	two potential leucine zipper motif

secondary structure

a large region of coiled-coil structure including an 11 heptad acidic amphipathic alpha-helical segment

HOMOLOGY

interspecies

homolog to murine Slap

Homologene

FAMILY

SLMAP family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	tail-anchores membrane protein exhibiting tissue-specific expression and situated to serve a variety of roles through their coiled-coil motifs
	could self assemble and bind myosin in cardiac muscle
	playing a potential role in the structural arrangement of the E-C (excitation-contraction) coupling apparatus
	SLMAP is a regulator of E-C coupling at the level of the sarcoplasmic reticulum and its perturbation results in progressive deterioration of cardiac electrophysiology and function
	tail-anchored protein involved in fundamental cellular processes, such as myoblast fusion, cell cycle progression, and chromosomal inheritance

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of the microtubule organizing centre
	part of the conserved striatin-interacting phosphatase and kinase (STRIPAK) complex required for specific signaling pathways

INTERACTION

DNA

RNA

small molecule

protein	complex striatin-interacting phosphatase and kinase (STRIPAK), can establish mutually exclusive interactions with the cortactin-binding proteins cortactin-binding protein 2 (CTTNBP2)/cortactin-binding protein 2, N-terminal-like (CTTNBP2NL) or with an assembly of sarcolemmal membrane-associated protein (SLMAP)

cell & other

sarcolemmal associated

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   associated with diabetes and endothelial dysfunction of macro- and micro-blood vessels constitutional germinal mutation       may cause Brugada syndrome via modulating the intracellular trafficking of SCNA5 channel

Susceptibility

to diabetic retinopathy (DR) in type 2 diabetes (T2DM)

Variant & Polymorphism other	SLMAP rs17058639 C&
	8201;>&
	8201;T polymorphism was associated with the presence of diabetic retinopathy (DR) in type 2 diabetes (T2DM)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS