SERPINB7
entrez
8710
canonical
uniprot
O75635
canonical
ensembl
ENSG00000166396
resolver
ensp
ENSP00000337212
resolver
ensp
ENSP00000381101
resolver
ensp
ENSP00000444572
resolver
ensp
ENSP00000444861
resolver
ensp
ENSP00000564216
resolver
genesymbol
SERPINB7
resolver
hgnc
HGNC:13902
resolver
uniprot
A8K3Q8
resolver
uniprot
B4DUW8
resolver
uniprot
F5GZC0
resolver
uniprot
Q1ED45
resolver
uniprot
Q3KPG4
resolver
uniprot_entry
A8K3Q8_HUMAN
resolver
uniprot_entry
SPB7_HUMAN
resolver
uniprot_sec
B4DUW8
resolver
uniprot_sec
F5GZC0
resolver
uniprot_sec
Q1ED45
resolver
uniprot_sec
Q3KPG4
resolver
amino_acid_sequence
MASLAAANAEFCFNLFREMDDNQGNGNVFFSSLSLFAALALVRLGAQDDSLSQIDKLLHVNTASGYGNSSNSQSGLQSQLKRVFSDINASHKDYDLSIVNGLFAEKVYGFHKDYIECAEKLYDAKVERVDFTNHLEDTRRNINKWVENETHGKIKNVIGEGGISSSAVMVLVNAVYFKGKWQSAFTKSETINCHFKSPKCSGKAVAMMHQERKFNLSVIEDPSMKILELRYNGGINMYVLLPENDLSEIENKLTFQNLMEWTNPRRMTSKYVEVFFPQFKIEKNYEMKQYLRALGLKDIFDESKADLSGIASGGRLYISRMMHKSYIEVTEEGTEATAATGSNIVEKQLPQSTLFRADHPFLFVIRKDDIILFSGKVSCP
uniprot
proteins
disease_involvement
DISEASE: Keratoderma, palmoplantar, Nagashima type (PPKN) [MIM:615598]: An autosomal recessive, non-syndromic, diffuse palmoplantar keratosis characterized by well-demarcated diffuse erythematous hyperkeratosis expanding onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis is mild and non-progressive. {ECO:0000269|PubMed:24207119}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin.
uniprot
proteins
mass_dalton
42905
uniprot
proteins
protein_family
Ov-serpin subfamily
uniprot
proteins
protein_family
Serpin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
24207119
uniprot
proteins
pubmed
9182567
uniprot
proteins
pubmed
9710452
uniprot
proteins
sequence_length
380
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
uniprot
proteins