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FLASH GENE

Symbol

ATP2C1

contributors: mct - updated : 20-11-2018

HGNC name	ATPase, Ca++ transporting, type 2C, member 1
HGNC id	13211

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BCPM benign chronic pemphigus with acantholysis
Location	3q22.1      Physical location : 130.613.433 - 130.735.553
Synonym name	ATP-dependent Ca(2+) pump PMR1
	ATPase, Ca(2+)-sequestering
	calcium-transporting ATPase 2C1
	secretory pathway Ca2+/Mn2+ ATPase
Synonym symbol(s)	HHD, PMR1, ATP2C1A, KIAA1347, PMR1L, SPCA1, hSPCA1, HUSSY-28
EC.number	3.6.3.8

DNA

TYPE	functioning gene
STRUCTURE	134.34 kb     28 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D3S1589 - RHO - ATP2C1 - D3S1587 - D3S3548 - D3S1541 - D3S1292 - D3S3514 - D3S1596 - D3S3076 - pter
Authors	Hu (00)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014382 27 - 4763 NP_055197 100.6 919 - 2003 14632183 NM_001001487 28 splicing 3484 NP_001001487 - 989 - 2003 14632183 same expression in pattern NM_001001485 27 - 3389 NP_001001485 - 888 - 2003 14632183 NM_001001486 28 - 3514 NP_001001486 - 949 - 2003 14632183

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 Endocrine neuroendocrine pituitary     highly   parathyroid       highly Reproductive male system prostate     highly

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage	epidermal cells of the basal layer
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to yeast calcium pump Pmr1

intraspecies

homolog to ATP2C2 (64 p100)

Homologene

FAMILY

P-type cation transport ATPases family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
text	mostly excluded from the cores of the Golgi cisternae and is instead located mainly on the lateral rims of Golgi stacks, in tubular noncompact zones that interconnect different Golgi stacks, and within tubular parts of the trans Golgi network

basic FUNCTION	sequestering calcium into the Golgi in yeast
	catalyzing the hydrolysis of ATP coupled with the transport of the calcium
	playing an important role in homeostatic maintenance throughout the secretory pathway
	in the Golgi apparatus where it is actively involved in the transport of Ca(2+) or Mn(2+) from the cytosol to the Golgi lumen
	importance of its function for normal neural differentiation
	important role in Golgi homeostasis of Ca(2+)
	in spermatozoa, appears to play a major role in the regulation of cytosolic calcium transients
	correct SPCA1 functioning is crucial to intra-Golgi transport and maintenance of the Golgi ribbon
	have important roles in the mammary gland and likely contribute to the secretion of calcium into milk
	key regulator of IGF1R processing in basal breast cancer cells
	P-type pump that transports Mn(2+) from the cytosol into the Golgi

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	CFL1 is required for actin and P-type ATPase secretory pathway calcium ATPase (ATP2C1)-dependent sorting of secretory proteins at the trans-Golgi network (TGN)
	TMEM165 expression is linked to the function of ATP2C1
	the function of ATP2C1 is linked to the stability of TMEM165 in a pathological context of Hailey-Hailey disease

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BCPM

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation LOH     loss of allele in more severely affected segmental skin regions of chronic pemphigus constitutional       loss of function renders cells hypersensitive to ER stress

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive breast ATP2C1 modulation and regulation of Golgi calcium transport may provide a unique opportunity for therapeutic targeting of this important pathway in breast cancer

ANIMAL & CELL MODELS