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FLASH GENE

Symbol

EXPH5

contributors: mct/pgu - updated : 12-01-2016

HGNC name	exophilin 5
HGNC id	30578

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	11q22.3      Physical location : 108.376.158 - 108.464.374
Genatlas name	melanophilin
Synonym name	cDNA sequence,expressed in brain,>100kDa
	Slp homolog lacking C2 domains b
	synaptotagmin-like homologue lacking C2 domains b
Synonym symbol(s)	MGC133291, DKFZp781H0795, KIAA0624, SLAC2-B, DKFZp586F1223, MGC134967, SLAC2B

DNA

TYPE	functioning gene
STRUCTURE	88.22 kb     6 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_001144763 6 - 10164 NP_001138235 213.24 1913 - 2002 1218914 NM_015065 6 - 10208 NP_055880 22.4 1989 - 2002 1218914 NM_001144765 3 - 9850 NP_001138237 201 1801 - 2002 1218914

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 Nervous brain         Skin/Tegument           Homo sapiens

cells

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal Slp homology domain (SHD), synaptotagmin-like protein (Slp) homology domain (SHD), referred to as RBD27 (Rab-binding domain specific for RAB27 isoforms)
	two Ca2+ dependent targeting domains (C2) at the C terminus

HOMOLOGY

Homologene

FAMILY

SLP family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic,vesicle
text	localized more to intracellular vesicles and at the periphery of spreading cells where some colocalization with RAB27B was seen

basic FUNCTION	function as an in vivo Rab27A binding domain
	RAB27B and EXPH5 have putative roles in intracellular vesicle trafficking
	role in maintaining keratinocyte integrity, and in inherited skin fragility

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

trimeric complex consisting of TM4SF5, HDAC6, and EXPH5 might, thus, be enriched at the perinuclear cytosols toward the leading edges

INTERACTION

DNA

RNA

small molecule

protein	RAB27A by the Slp domain
	SYTL4 and EXPH5 are RAB27A and RAB27B effectors
	specific role in controlling beta4 integrin function in keratinocytes

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in autosomal-recessive inherited skin fragility

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS