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FLASH GENE

Symbol

ANKRD27

contributors: mct/npt - updated : 28-4-2021

HGNC name	ankyrin repeat domain 27 (VPS9 domain)
HGNC id	25310

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	78.20 kb     29 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_032139 29 - 4461 NP_115515 - 1050 - 2006 16525121

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 Endocrine neuroendocrine pituitary     highly Lymphoid/Immune lymph node       highly Nervous brain limbic system hippocampus     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a VPS9 domain
	a RAB21-guanine nucleotide exchange factor (GEF) domain
	ANK repeats (ANKR1-1 contains AAs 462–494; ANKR1-2 contains AAs 495–527; ANKR1-3 contains AAs 528–560; and ANKR1-4 contains AAs 561–596)

HOMOLOGY

interspecies

homolog to murine Ankrd27

Homologene

FAMILY

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic
text	ANKRD27, VAMP7 and RAB21 co-localize in the perinuclear region of differentiating hippocampal neurons and transiently in transport vesicles in the shaft of neurites
	localizes to melanosomes by interaction with both VAMP7 and RAB38

basic FUNCTION	potential RAB21 guanine nucleotide exchange factor that might regulate endosome dynamics
	can serves as both an effector and a guanine nucleotide exchange factor by interacting with different RABs in mammalian cells
	functions as the RAB32/38 effector that controls trafficking of TYRP1 in melanocytes
	is a positive regulator of neurite growth through both its GEF activity and its interaction with VAMP7
	implicated in the regulation of trafficking of a melanogenic enzyme tyrosinase-related protein 1 (TYRP1) to melanosomes
	functioning as a RAB32/38 effector in melanocytes and regulating TYRP1 trafficking to melanosomes
	its RAB21-GEF activity and RAB32/38 binding activity of are required for different melanocyte functions
	regulates endosomal trafficking, which underlies a variety of cellular events, including melanogenic enzyme trafficking to melanosomes, dendrite outgrowth of melanocytes, neurite outgrowth and retromer-mediated endosome-to-plasma membrane sorting of transmembrane proteins
	ANKRD27and TBC1D5 are accessory/regulatory proteins of retromer-mediated retrograde trafficking from endosomes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacts preferentially with GDP-bound RAB21 and has a much stronger guanine nucleotide exchange activity towards RAB21 than RAB5A
	RAB38 is a ANKRD27-associated protein (physically interacts with RAB38, and preferentially binds to the active GTP-bound form of RAB38)
	RAB38 effector, that might also be involved in targeting TYRP1 or/and tyrosinase to the melanosome for the synthesis of pigment
	VAMP7 interacts with ANKRD27, a guanine nucleotide exchange factor (GEF) of the small GTPase RAB21, through a specific domain herein called the interacting domain (ID)
	specifically binds two small GTPases, RAB32 and RAB38, which redundantly regulate the trafficking of melanogenic enzymes in mammalian epidermal melanocytes
	ANKRD27-VAMP7 interaction is essential for the peripheral melanosomal distribution of TYRP1 in melanocytes
	recruitment of ANKRD27 to the endosomal membrane is mediated by its direct interaction with VPS29, a subunit of the retromer complex, which is involved in trafficking from endosomes to the TGN and the cell surface
	suppression of VPS35 led to mistrafficking of the melanogenic enzymes, tyrosinase and TYRP1, establishing that retromer acts in concert with ANKRD27 in this trafficking pathway
	in addition to VAMP7, ANKRD27 binds to RAB32/38
	HPS4 regulates recycling of VAMP7 from melanosomes, most likely by recruiting RAB38 and consequently ANKRD27 to initiate and/or complete tubule formation

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS