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FLASH GENE

Symbol

SLC45A2

contributors: mct/npt - updated : 07-06-2017

HGNC name	solute carrier family 45, member 2
HGNC id	16472

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	OCA4 oculocutaneous albinism, type 4
Location	5p13.2      Physical location : 33.944.721 - 33.984.780
Synonym name	absent in melanoma
	membrane associated transporter protein
	underwhite
	melanoma antigen AIM1
Synonym symbol(s)	AIM1, MATP, AIM-1, 1A1, SHEP5, OCA4

DNA

TYPE	functioning gene
STRUCTURE	40.06 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_016180 7 - 1734 NP_057264 58.2 530 - 2015 25760657 NM_001012509 6 - 2769 NP_001012527 51.1 460 - 2015 25760657 NM_001297417 4 - 1085 NP_001284346 - 243 - 2015 25760657

EXPRESSION

Type

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 Skin/Tegument skin         Mus musculus Visual eye         Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument melanocyte Homo sapiens

cell lineage
cell lines	melanoma cells
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	twelve transmembrane segments
	cytoplasmic N and C termini, sucrose/proton symporter found in plants between TM2 and TM3

HOMOLOGY

interspecies	ortholog to murine underwhite Uw
	ortholog to medaka fish Aim1

Homologene

FAMILY

glycoside-pentoside-hexuronide (GPH) cation symporter transporter family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
text	in the melanosome membrane (Guedj 2008)
	is located in melanosomes

basic FUNCTION	regulation of melanogenesis
	may be transporting substances required for melanin biosynthesis
	playing a crucial role in the processing and intracellular trafficking of tyrosinse as well as other melanosomal proteins
	involved in skin and hair pigmentation
	may play an important role in regulating tyrosinase activity via controlling melanosomal pH
	involved in skin pigmentation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

endocytosis transport

text	presumably mediating the transport of a critical substance across the melanosome membrane

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

OCA4

Susceptibility

to melanoma

Variant & Polymorphism SNP , other	associated with normal variation of pigmentation
	variants protective for melanoma
	rare allele L374 significantly increases the
	possibility of having black hair colour (Branicki 2008)
	3 SNP(rs28777, rs35391, and rs16891982) in the MATP gene (SLC45A2) exhibited the strongest crude association with risk of cutaneous malignant melanoma

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS