ENSG00000175426
Homo sapiens | |
Features
| Gene ID: | ENSG00000175426 | | | | | Biological name : | PCSK1 | | | | | Synonyms : | P29120 / PCSK1 / proprotein convertase subtilisin/kexin type 1 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 5 | | Strand: | -1 | | Band: | q15 | | Gene start: | 96390415 | | Gene end: | 96434143 | | | | | Corresponding Affymetrix probe sets: | 205825_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000421600
Ensembl peptide - ENSP00000427294
Ensembl peptide - ENSP00000308024
NCBI entrez gene - 5122
See in Manteia.
OMIM - 162150
RefSeq - NM_000439
RefSeq - NM_001177875
RefSeq Peptide - NP_000430
RefSeq Peptide - NP_001171346
swissprot - D6RJA3
swissprot - P29120
Ensembl - ENSG00000175426
| | | | | Related genetic diseases (OMIM): | 600955 - Obesity with impaired prohormone processing, 600955 | | | 612362 - {Obesity, susceptibility to, BMIQ12}, 612362 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
| FURIN / P09958 / furin, paired basic amino acid cleaving enzyme | ENSG00000140564 | 44 | | PCSK5 / Q92824 / proprotein convertase subtilisin/kexin type 5 | ENSG00000099139 | 41 | | PCSK6 / P29122 / proprotein convertase subtilisin/kexin type 6 | ENSG00000140479 | 41 | | PCSK4 / Q6UW60 / proprotein convertase subtilisin/kexin type 4 | ENSG00000115257 | 38 | | PCSK2 / P16519 / proprotein convertase subtilisin/kexin type 2 | ENSG00000125851 | 37 | | PCSK7 / Q16549 / proprotein convertase subtilisin/kexin type 7 | ENSG00000160613 | 35 |
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000044 | Hypogonadotrophic hypogonadism | "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators] |
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| | HP:0000786 | Primary amenorrhea | |
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| | HP:0000823 | Delayed puberty | |
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| | HP:0000824 | Growth hormone deficiency | "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators] |
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| | HP:0000842 | Hyperinsulinemia | |
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| | HP:0000956 | Acanthosis nigricans | |
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| | HP:0001010 | Hypopigmentation of the skin | |
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| | HP:0001396 | Cholestasis | |
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| | HP:0001508 | Failure to thrive | |
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| | HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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| | HP:0002014 | Diarrhea | |
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| | HP:0002024 | Malabsorption | |
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| | HP:0002173 | Seizures, hypoglycemic | |
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| | HP:0002297 | Red hair | |
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| | HP:0002591 | Polyphagia | |
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| | HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| | HP:0003745 | Sporadic | |
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| | HP:0003812 | Phenotypic variability | |
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| | HP:0008163 | Plasma cortisol low | |
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| | HP:0008213 | Pituitary gonadotropin deficiency | |
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| | HP:0008245 | Tsh deficient hypothyroidism | |
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| | HP:0008915 | Truncal obesity apparent in childhood | |
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| | HP:0009126 | Increased adipose tissue | "An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell)." [HPO:curators] |
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| | HP:0011473 | Villous atrophy | "The enteric villi are atrophic or absent." [HPO:probinson] |
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| | HP:0011734 | Central adrenal insufficiency | "A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected." [DDD:spark] |
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| | HP:0012051 | Reactive hypoglycemia | "Hypoglycermia following a meal (or more generally, after intake of glucose)." [HPO:probinson] |
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Interacting proteins (from Reactome)
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