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FLASH GENE

Symbol

MPP1

contributors: mct - updated : 19-04-2017

HGNC name	membrane protein, palmitoylated 1, 55kDa
HGNC id	7219

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002436 12 - 2067 NP_002427 - 466 - 2009 18952129 NM_001166462 13 - 2216 NP_001159934 - 436 - 2009 18952129 NM_001166461 12 - 2007 NP_001159933 - 446 - 2009 18952129 NM_001166460 12 - 2016 NP_001159932 - 449 - 2009 18952129

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 Hearing/Equilibrium ear         Lymphoid/Immune spleen       highly   thymus       highly Reproductive female system placenta     highly Visual eye retina

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 erthrocyte Hearing / Equilibrium stereocilia Nervous Schawnn cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three Dlg (DHR/GLGZ/PDZ) motifs
	a SH3 domain
	presence of multiple cholesterol-binding sites in MPP1 that could explain at least one of the possibilities of its involvement in resting-state membrane-raft formation
	a C terminal GUK domain

HOMOLOGY

interspecies

homolog to Drosophila lethal dics large tumor suppressor protein (Dlg)

Homologene

FAMILY

MAGUK family

CATEGORY

signaling

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
text	colocalize with whirlin in the retina at the outer limiting membrane (OLM), at the outer synaptic layer and at the basal bodies and the ciliary axoneme

basic FUNCTION	involved in coupling the cytoskeleton to the cell membrane (EPB41)
	is a membrane skeleton protein participating in the formation of “vertical” linkage between membrane skeleton and membrane bilayer containing integral proteins
	conserved scaffolding protein with postulated functions in cell shape, hair cell development, and neural patterning of the retina
	mediator of the frontness signal required for neutrophil polarization
	required for neutrophil polarization by regulating Akt phosphorylation through a mechanism that is independent of PI3Kgamma activity
	regulates neutrophil polarity, and functions as a positive upstream effector of Akt phosphorylation and the role in neutrophil polarity have functional implications for both autoinflammatory diseases and infections
	having may be a role in the regulation of the apico-basal Crumbs polarity complex and actin polymerization in both ear and retina
	is the major target of palmitoylation in the RBC (Red blood cells)
	important role of MPP1 palmitoylation in determination of the membrane properties of the RBC
	crucial role of MPP1 in lateral membrane ordering/organization in HEL cells (derived from erythroid precursors)
	importance of MPP1 for lateral membrane organization
	can modulate membrane properties such as the fluidity and phase separation capability of giant plasma membrane-derived vesicles
	is a major target of palmitoylation in red blood cells

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

intracellular signaling cascade

a component	forms a tripartite protein complex with EPB41L3 and CADM1, MPP2, MPP3
	important component of the ternary complex that attaches the spectrin-based skeleton to the plasma membrane

INTERACTION

DNA

RNA

small molecule

protein	binds MPP5 and whirlin at the outer limiting membrane of the retina
	links the Usher protein network and the Crumbs protein complex in the retina (link of the core developmental processes of actin polymerization and establishment/maintenance of apico-basal cell polarity through MPP1)
	interaction with the FERM domain of protein EPB41 establishing physical linkage of MAGUKs to the actin cytoskeleton
	interaction with NF2 protein (MPP1-NF2 protein interaction may play a functional role in the regulation of apico-basal polarity and tumor suppression pathways in non-erythroid cells)
	with MPP2 and MPP3, interact with CADM1 and EPB41L3 mainly through PDZ-binding motif of CADM1 and the core region of FERM domain in EPB41L3, respectively
	binds to a 51-AAs peptide, encoded by exon 10, located within the FERM domain of EPB41

cell & other

REGULATION

Other

palmitoylated

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function absence of palmitoylated MPP1 results in a loss of ordered raft domains constitutional       loss of function by loss of palmitoylation attributable to absence of DHHC17 membrane associated with hemolytic anemia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS