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FLASH GENE

Symbol

MRAP

contributors: mct/npt - updated : 12-11-2014

HGNC name	melanocortin 2 receptor accessory protein
HGNC id	1304

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FGCD2 familial glucocorticoid deficiency 2
Location	21q22.11      Physical location : 33.664.123 - 33.687.092
Synonym name	fat cell-specific low molecular weight protein
	chromosome 21 open reading frame 61
Synonym symbol(s)	B27, FALP, C21orf61, GCCD2, FGD2

DNA

TYPE	functioning gene
STRUCTURE	22.51 kb     5 Exon(s)

regulatory sequence	Promoter
	Binding site   transcription factor
motif
text structure	peroxisome proliferator response element (PPRE) was identified in the MRAP promoter region
	a putative PPAR binding site located between &
	8722;1209 and &
	8722;1198 bp was found in the MRAP promoter sequence

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_178817 5 splicing 1023 NP_848932 19 172 testis, breast, thyroid, lymph node, ovary 2012 22366472 variant alpha exons 1 to 5 is involved in MC2R targeting to the plasma membrane NM_206898 4 splicing 656 NP_996781 14.1 102 testis, adrenal, breast, skin 2012 22366472 variant beta exons 1-4 and 6 may enhance ACTH-MC2R coupling to cAMP production NM_001285394 4 - 876 NP_001272323 - 113 - 2012 22366472

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 Digestive stomach       predominantly Endocrine adrenal gland cortex zona fasciculata   highly Homo sapiens   thyroid         Lymphoid/Immune lymph node         Reproductive female system breast         female system ovary     highly   male system testis     highly Skin/Tegument skin       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose

cells

System Cell Pubmed Species Stage Rna symbol   adipocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	transmembrane domain is the MC2R interaction domain
	a conserved N-terminal tyrosine-rich domain required for trafficking MC2R to the cell surface (Webb 2009)
	C-terminal domains of MRAP dictate their intracellular localization in addition to regulating ACTH-induced cAMP production

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to murine falp

intraspecies	homolog to C6orf117
	paralog to MRAP2

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,nucleus
text	perinuclear membrane compartement
	colocalizing with MC2R in endoplasmic reticulum
	MC2R was retained in the endoplasmic reticulum in the absence of MRAP and targeted to the plasma membrane with MRAP

basic FUNCTION	having a role in the processing, rafficking or function of MC2R
	required for trafficking by the MC2 (ACTH) receptor (Sebag 2009)
	not only facilitates MC2 receptor trafficking but also allows properly localized receptor to bind ACTH and consequently signal (Sebag 2009)
	responsible for adrenal MC2R trafficking and function (Chan 2009)
	with MRAP2 are unique bidirectional regulators of the MCR family (Chan 2009)
	having ability to facilitate trafficking of the MC2R to the plasma membrane and to enable the receptor to signal in response to its unique ligand, ACTH (Chan 2009)
	is critical to the production of glucocorticoids from the adrenal cortex
	expression of MC2R and MRAP in the undifferentiated zone of adrenal gland would support the notion that ACTH may play an important role in adrenal cell differentiation and maintenance
	could be important in adrenal cell differentiation and/or maintenance
	small single transmembrane protein that facilitates MC2R trafficking from the endoplasmic reticulum to the cell surface

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

can homodimerize and form heterodimers with MRAP (Chan 2009)

INTERACTION

DNA

RNA

small molecule

protein	interacting with MC2R
	interaction with MRAP2 (interaction results in MC2R surface expression and signaling) (Chan 2009)
	MRAP expression enhanced MC2R cell-surface expression as well as concentration-dependent cAMP accumulation
	in the absence of MRAP, MC2R cannot translocate from the endoplasmic reticulum to the plasma membrane and ACTH-induced signaling is extinguished
	PPARG is required for transcriptional activation of the MRAP gene during adipogenesis, which contributes to understanding of the molecular mechanism of lipolysis in adipocytes
	transcription of LIPE is regulated by the PPARG/MRAP-mediated signaling pathway
	MC2R requires melanocortin receptor accessory protein 1 (MRAP) for formation of active receptor and for its transport to the cell membrane

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FGCD2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   lower in adrenocortical carcinomas (ACC) than in other adrenal tissues

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS