Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

SERPING1

contributors: mct - updated : 29-11-2017

HGNC name	serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)
HGNC id	1228

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	17.30 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001032295 7 - 1832 NP_001027466 - 500 - 2017 28135312 NM_000062 8 - 1984 NP_000053 - 500 - 2017 28135312

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 Digestive liver           stomach         Gustatory (taste) tongue         Lymphoid/Immune spleen         Reproductive female system placenta       Visual eye retina       Homo sapiens   eye uvea choroid     Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	22 AA signal peptide
	C-terminal domain of SERPING1(iC1INH), lacking of serpin function, induces a conformational change in the molecule, and has an anti-vascular permeability independent on the serpin function

conjugated

GlycoP

HOMOLOGY

interspecies

ortholog to chimpanzee LOC461302

Homologene

FAMILY

serpin family

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	extracellular
text	secreted

basic FUNCTION	complement component 1
	serine protease inhibitor
	novel role for SERPING1 in inhibition of vascular endothelial activation
	is present in the retina and choroid, where it may regulate complement activation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	serpin, C1-esterase inhibitor (SERPING1), is the only known plasma inhibitor of C1s, the initiating serine protease of the classical pathway of complement
	inhibits the peroxidase activity of MPO in CF (cystic fibrosis) sputum likely via an antioxidant mechanism

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HAE1

Susceptibility

to age-related macular degeneration (AMD) and to polypoidal choroidal vasculopathy (PCV)

Variant & Polymorphism SNP	SNP rs2511989 was not significantly associated with all forms of AMD, neovascular AMD, or PCV in East Asians but was associated with AMD in Caucasians

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS