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FLASH GENE

Symbol

SERPIND1

contributors: - updated : 15-05-2006

HGNC name	serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1
HGNC id	4838

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HCF2 thrombosis, recurrent
Location	22q11.21      Physical location : 21.128.382 - 21.142.008
Synonym name	heparin cofactor II
	leuserpin 2
Synonym symbol(s)	HC2, LS2, HCF2, HLS2, D22S673

DNA

TYPE	functioning gene
STRUCTURE	8.00 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - RANBP1 - USP18 - ZNF74 - PIK4CA /BCRL5 - SERPIND1 - SNAP29 - CRKL - LZTR1 - P2RXL2 - P2RXL1 - SLC7A4 - qter
Authors	Dunham (99)

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type	restricted

constitutive of

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 Digestive liver       predominantly   mouth tongue       Endocrine parathyroid         Nervous brain

cell lineage
cell lines
fluid/secretion	plasma

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an heparin binding site and a reactive site
	N-terminal acidic repeat region mediating, in part, the glycosaminoglycan-accelerated thrombin inhibition

conjugated

GlycoP

HOMOLOGY

intraspecies

homolog to AT3

Homologene

FAMILY

serpin family

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION	inhibitor of thrombin and chymotrypsin
	rapidly inhibiting thrombin in the presence of dermatan sulfate or heparin

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HCF2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in di Georges syndrome

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS