PCSK1 (proprotein convertase subtilisin/kexin type 1)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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5122 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Proprotein convertase subtilisin/kexin type 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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PCSK1 |
SynonymsGene synonyms aliases
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BMIQ12, NEC1, PC1, PC1/3, PC3, SPC3 |
ChromosomeChromosome number
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5 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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5q15 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein under |
miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P29120 |
Protein name |
Neuroendocrine convertase 1 (NEC 1) (EC 3.4.21.93) (Prohormone convertase 1) (Proprotein convertase 1) (PC1) |
Protein function |
Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin, insulin and AGRP. |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF16470 |
S8_pro-domain |
34 → 110 |
Peptidase S8 pro-domain |
Domain |
PF00082 |
Peptidase_S8 |
158 → 442 |
Subtilase family |
Domain |
PF01483 |
P_proprotein |
504 → 591 |
Proprotein convertase P-domain |
Family |
PF12177 |
Proho_convert |
713 → 751 |
Prohormone convertase enzyme |
Domain |
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Sequence |
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Sequence length |
753 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Cholestasis |
Cholestasis |
rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 |
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Hyperinsulinism |
Hyperinsulinism |
rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209, rs761749884, rs797045624, rs863225280, rs139964066, rs1057516281, rs1057516317, rs576684889, rs201682634, rs1350717554, rs768951263, rs1260178539, rs200670692, rs72559734, rs1400535021, rs372307320, rs1554923999, rs751279984, rs1008906426, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1599937180 |
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Hypogonadotropic hypogonadism |
Hypogonadotropic hypogonadism |
rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139 |
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Isolated somatotropin deficiency |
Isolated somatotropin deficiency |
rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391 |
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Obesity |
Obesity, Obesity due to prohormone convertase I deficiency |
rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 |
18604207 |
Adrenal insufficiency |
Secondary Adrenal Insufficiency |
rs104894118, rs104894119 |
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Hypothyroidism |
Secondary hypothyroidism |
rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Acanthosis nigricans |
Acanthosis Nigricans |
rs780668 |
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Gonadotropin deficiency |
Gonadotropin deficiency |
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Hypoglycemic seizures |
Hypoglycemic seizures |
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Hypogonadism |
Hypogonadism |
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Hypopigmentation disorder |
Hypopigmentation disorder |
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Malabsorption syndrome |
Malabsorption Syndrome |
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Physiologic amenorrhea |
Primary physiologic amenorrhea |
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Proprotein convertase 1/3 deficiency |
Proprotein Convertase 1 3 Deficiency |
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9207799, 17595246, 14617756 |
Reactive hypoglycemia |
Reactive hypoglycemia |
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Somatotropin deficiency |
Somatotropin deficiency |
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