SERPINI1
entrez
5274
canonical
uniprot
Q99574
canonical
ensembl
ENSG00000163536
resolver
ensp
ENSP00000295777
resolver
ensp
ENSP00000397373
resolver
ensp
ENSP00000543006
resolver
ensp
ENSP00000628506
resolver
ensp
ENSP00000628508
resolver
ensp
ENSP00000628509
resolver
ensp
ENSP00000628510
resolver
ensp
ENSP00000628512
resolver
enst
ENST00000295777
resolver
enst
ENST00000446050
resolver
enst
ENST00000872947
resolver
enst
ENST00000958447
resolver
enst
ENST00000958449
resolver
enst
ENST00000958450
resolver
enst
ENST00000958451
resolver
enst
ENST00000958453
resolver
genesymbol
SERPINI1
resolver
genesymbol_syn
PI12
resolver
hgnc
HGNC:8943
resolver
uniprot
A0A0S2Z455
resolver
uniprot
A8K217
resolver
uniprot
D3DNP1
resolver
uniprot
Q6AHZ4
resolver
uniprot_entry
A0A0S2Z455_HUMAN
resolver
uniprot_entry
NEUS_HUMAN
resolver
uniprot_sec
A8K217
resolver
uniprot_sec
D3DNP1
resolver
uniprot_sec
Q6AHZ4
resolver
amino_acid_sequence
MAFLGLFSLLVLQSMATGATFPEEAIADLSVNMYNRLRATGEDENILFSPLSIALAMGMMELGAQGSTQKEIRHSMGYDSLKNGEEFSFLKEFSNMVTAKESQYVMKIANSLFVQNGFHVNEEFLQMMKKYFNAAVNHVDFSQNVAVANYINKWVENNTNNLVKDLVSPRDFDAATYLALINAVYFKGNWKSQFRPENTRTFSFTKDDESEVQIPMMYQQGEFYYGEFSDGSNEAGGIYQVLEIPYEGDEISMMLVLSRQEVPLATLEPLVKAQLVEEWANSVKKQKVEVYLPRFTVEQEIDLKDVLKALGITEIFIKDANLTGLSDNKEIFLSKAIHKSFLEVNEEGSEAAAVSGMIAISRMAVLYPQVIVDHPFFFLIRNRRTGTILFMGRVMHPETMNTSGHDFEEL
uniprot
proteins
disease_involvement
DISEASE: Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB) [MIM:604218]: A neurodegenerative disease clinically characterized by dementia. Additional features include intellectual decline, psychic seizures, progressive myoclonic epilepsy, and cerebral atrophy. Histologically, it is characterized by the presence of eosinophilic inclusion bodies (called Collins bodies) throughout the deeper layers of the cerebral cortex, leading to neuronal death. {ECO:0000269|PubMed:10517635, ECO:0000269|PubMed:11880376}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin (PubMed:11880376, PubMed:19265707, PubMed:19285087, PubMed:26329378, PubMed:9442076). May be involved in the formation or reorganization of synaptic connections as well as for synaptic plasticity in the adult nervous system. May protect neurons from cell damage by tissue-type plasminogen activator (Probable). {ECO:0000269|PubMed:11880376, ECO:0000269|PubMed:19265707, ECO:0000269|PubMed:19285087, ECO:0000269|PubMed:26329378, ECO:0000269|PubMed:9442076, ECO:0000305}.
uniprot
proteins
mass_dalton
46427
uniprot
proteins
mutagenesis
MUTAGEN 161; /note="N->G: Increases protein stability and abolishes tendency to form polymers. No effect on inhibitory activity."; /evidence="ECO:0000269|PubMed:19285087"; MUTAGEN 162; /note="L->K: Increases protein stability and abolishes tendency to form polymers. No effect on inhibitory activity."; /evidence="ECO:0000269|PubMed:19285087"; MUTAGEN 163; /note="V->I: Increases protein stability and decreases tendency to form polymers. No effect on inhibitory activity."; /evidence="ECO:0000269|PubMed:19285087"; MUTAGEN 289; /note="E->A: Slightly decreases inhibitory activity. No effect on thermal stability."; /evidence="ECO:0000269|PubMed:26329378"; MUTAGEN 340; /note="S->A: Increases protein stability and decreases tendency to form polymers. No effect on inhibitory activity."; /evidence="ECO:0000269|PubMed:19285087
uniprot
proteins
protein_family
Serpin family
uniprot
proteins
pubmed
10517635
uniprot
proteins
pubmed
11880376
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17040209
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19265707
uniprot
proteins
pubmed
19285087
uniprot
proteins
pubmed
25326458
uniprot
proteins
pubmed
26329378
uniprot
proteins
pubmed
9070919
uniprot
proteins
pubmed
9442076
uniprot
proteins
sequence_length
410
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:17040209, ECO:0000269|PubMed:25326458}. Cytoplasmic vesicle, secretory vesicle lumen {ECO:0000305|PubMed:17040209}. Perikaryon {ECO:0000269|PubMed:17040209}.
uniprot
proteins