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FLASH GENE

Symbol

DDHD1

contributors: mct/shn - updated : 15/01/2013

HGNC name	DDHD domain containing 1
HGNC id	19714

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SPG28 spastic paraplegia 28
Location	14q21.1      Physical location : 53.503.458 - 53.620.046
Synonym name	phosphatidic acid-preferring phospholipase A1-like protein
	phosphatidic acid-preferring phospholipase A1 homolog
	DDHD domain-containing protein 1
	phospholipase DDHD1
	spastic paraplegia 28 (autosomal recessive)
Synonym symbol(s)	KIAA1705, PA-PLA1, FLJ34209, FLJ42555, PAPLA1, SPG28
EC.number	3.1.1

DNA

TYPE	functioning gene
STRUCTURE	116.59 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D14S1018 - D14S589 - DDHD1 - D14S989 - D14S139 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_030637 12 splicing 12885 NP_085140 - 872 - 2010 20359546 NM_001160148 13 splicing 12969 NP_001153620 110 900 - - 9488669 NM_001160147 13 splicing 12906 NP_001153619 - 879 - 2010 20359546

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 Lymphoid/Immune spleen       moderately Homo sapiens   thymus       specific Homo sapiens Nervous brain midbrain substantia nigra   highly Homo sapiens   brain basal nuclei caudate nucleus   highly Homo sapiens   brain limbic system hippocampus   highly Homo sapiens   brain diencephalon amygdala   moderately Homo sapiens   brain basal nuclei corpus callosum   highly Homo sapiens   brain diencephalon thalamus   highly Homo sapiens   brain hindbrain cerebellum   highly Homo sapiens   brain       moderately Homo sapiens Reproductive male system testis     predominantly Homo sapiens Respiratory lung       moderately Homo sapiens Urinary kidney       lowly Homo sapiens

tissue

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

cell lineage
cell lines	follicular lymphoma,fibrosarcoma
fluid/secretion

at STAGE

Text	fetal brain and kidney

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a lipase consensus domain
	a putative coiled-coil-forming region
	a DDHD domain

HOMOLOGY

interspecies	ortholog to DDHD1, Pan troglodytes
	ortholog to Ddhd1, Mus musculus
	ortholog to Ddhd1, Rattus norvegicus

Homologene

FAMILY

iPLA1 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus
text	displayed a diffuse distribution pattern almost exclusively in the cytosol and observed partially in microsomes and mitochondria

basic FUNCTION	may control phosphatidyl inositol concentration in transport vesicle
	hydrolizing phosphatidic acid
	may function as a calcium transporter
	may be participating in spermiogenesis
	implicated in the formation of 2-arachidonoyl-lysophosphatidylinositol and indicate that the process is modulated by phosphatidic acid released by phospholipase D (
	contributes to efficient membrane trafficking from the Golgi apparatus to the plasma membrane
	might be involved in the maintenance of organelle membranes and intracellular trafficking

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

DDHD1-SLC7A7-GPR55 axis may be involved in functions in the brain (

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+ binding

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPG28

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS