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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
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)
    Physical map
    LOC284874 22q11.21 hypothetical LOC284874 LOC388851 22 similar to phosphatidylinositol 4-kinase, catalytic, alpha polypeptide isoform 2; phosphatidylinositol 4-kinase, type II, alpha; phosphatidylinositol 4-kinase, type III, alpha; phosphatidylinositol 4-kinase 230 LOC388852 22 similar to hypothetical protein LOC388853 22 similar to Sushi domain (SCR repeat) containing LOC391298 22 similar to KIAA0649 gene product LOC388854 22 similar to Gamma-glutamyltranspeptidase 1 precursor (Gamma-glutamyltransferase 1) (CD224 antigen) LOC388855 22 hypothetical gene supported by BC039313 LOC388856 22 hypothetical gene supported by BC039313 LOC388857 22 similar to KIAA0649 gene product LOC391299 22 similar to Collagen alpha 1(II) chain precursor USP41 22q11.22 ubiquitin specific protease 41 ZNF74 22q11.21 zinc finger protein 74 (Cos52) SCARF2 22q11.21 scavenger receptor class F, member 2 FLJ14360 22q11.21 hypothetical protein FLJ14360 PCQAP 22q11.21 PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein LOC391300 22 similar to hypothetical protein FLJ20297 LOC343839 22q11.21 similar to Sodium/hydrogen exchanger 3 (Na(+)/H(+) exchanger 3) (NHE-3) LOC150207 22q11.21 hypothetical gene LOC150207 POM121L4P 22 POM121 membrane glycoprotein-like 4 pseudogene (rat) DKFZp434N035 22q11.21 hypothetical protein DKFZp434N035 PIK4CA 22q11.21 phosphatidylinositol 4-kinase, catalytic, alpha polypeptide SERPIND1 22q11.21 serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1 SNAP29 22q11.21 synaptosomal-associated protein, 29kDa CRKL 22q11.21 v-crk sarcoma virus CT10 oncogene homolog (avian)-like FLJ30473 22q11.21-q11.22 hypothetical protein FLJ30473 LZTR1 22q11.1-q11.2 leucine-zipper-like transcriptional regulator, 1 THAP7 22q11.2 THAP domain containing 7 FLJ39582 22q11.2 hypothetical protein FLJ39582 MGC16703 22q11.22 alpha tubulin-like P2RXL1 22q11.21 purinergic receptor P2X-like 1, orphan receptor SLC7A4 22q11.21 solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 LOC391301 22 similar to Tubulin alpha-3/alpha-7 chain (Alpha-tubulin 3/7) LOC388858 22 similar to Bcr protein LOC391302 22 hypothetical gene supported by AY358961; NM_014549 LOC376818 22q11.22 E2F transcription factor 6 pseudogene LOC388859 22 similar to Nucleosome binding protein 1 (Nucleosome binding protein 45) (NBP-45) (GARP45 protein) LOC388860 22 similar to Gamma-glutamyltranspeptidase 1 precursor (Gamma-glutamyltransferase 1) (CD224 antigen) LOC388861 22 similar to E2F transcription factor 6 isoform a LOC388862 22 LOC388862 LOC388863 22 similar to dJ831C21.3 (novel protein similar to DKFZP434P211 protein) LOC388864 22 similar to breakpoint cluster region isoform 1 LOC391303 22 similar to Nucleosome binding protein 1 (Nucleosome binding protein 45) (NBP-45) (GARP45 protein) LOC391304 22 similar to KIAA0649 gene product LOC391305 22 similar to Sushi domain (SCR repeat) containing
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   predominantly
     mouthtongue   
    Endocrineparathyroid    
    Nervousbrain    
    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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in di Georges syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS